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Gene: Nos1 MGI:97360

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nitric oxide synthase 1, neuronal

Synonyms:

nNOS, Nos-1, bNOS, NO, 2310005C01Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nos1 mutations

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

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

Human diseases associated with Nos1 (1 diseases)
Human diseases predicted to be associated with Nos1 (1959 diseases)

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, Dysphagia, Weight loss	ORPHA:930

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

Disease	Matching phenotypes	Source
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Coproporphyria, Hereditary	Diarrhea, Vomiting, Depression, Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin...	OMIM:121300
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo...	OMIM:308750
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro...	OMIM:612885
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Premature Ovarian Failure 17	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	OMIM:619146
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu...	OMIM:616030
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate...	OMIM:612964
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	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
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Absence of pubertal development, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogona...	OMIM:614837
Adenosine Monophosphate Deaminase Deficiency	Exercise-induced muscle fatigue, Limb muscle weakness	ORPHA:45
Premature Ovarian Failure 2A	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula...	OMIM:300511
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp...	OMIM:618187
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te...	OMIM:614897
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle...	OMIM:619938
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty...	OMIM:619326
Myopathy Due To Myoadenylate Deaminase Deficiency	Rhabdomyolysis, Skeletal muscle atrophy, Increased muscle fatiguability, Myopathy	OMIM:615511
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ...	OMIM:619350
46,Xy Sex Reversal 1	Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona...	OMIM:400044
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Premature Ovarian Failure 14	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:618014
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed...	OMIM:614324
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:300068
Variegate Porphyria	Vomiting, Increased fecal protoporphyrin concentration, Elevated urinary delta-aminolevulinic aci...	OMIM:176200
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De...	OMIM:614839
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Abnormal morphology of ...	ORPHA:99429
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec...	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	Impaired vibratory sensation, Increased variability in muscle fiber diameter, Depression, Dilated...	ORPHA:70595
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased variability in muscle fiber diameter, Intestinal pseudo-obstruction, Positive Romberg s...	OMIM:607459
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Vomiting, Diarrhea, Glycosuria, Hypernatriuria, Polydipsia, Low-...	ORPHA:47159
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Hypogonadism-Cataract Syndrome	Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l...	OMIM:240950
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Decreased testicular size, Non-obstructive azoospermia, Azoospermia, Abn...	ORPHA:399805
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm...	OMIM:619755
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, Myopathy, Increased muscle fatiguability, Abnormal mus...	OMIM:123320
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Tricuspid regurgitation, Gast...	OMIM:611376
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ...	ORPHA:90797
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Ovarian Dysgenesis 4	Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ...	OMIM:616185
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty...	ORPHA:453533
46,Xy Sex Reversal 3	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Vomiting, Proximal tubulopathy, Glycosuria, Transient aminoaciduria,...	OMIM:229600
Precocious Puberty, Central, 1	Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele...	OMIM:176400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr...	OMIM:603041
Premature Ovarian Failure 22	Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in...	OMIM:620548
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Arrhythmia, Abnormality of the ki...	ORPHA:85443
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
X-Linked Intellectual Disability, Van Esch Type	Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased serum t...	ORPHA:163976
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Abnormality of t...	ORPHA:90291
Premature Ovarian Failure 16	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Reduced antra...	OMIM:618723
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating cr...	OMIM:255100
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Trimethylaminuria	Depression, Splenomegaly, Trimethylaminuria, Tachycardia, Hypertension	OMIM:602079
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit...	ORPHA:2410
Visceral Myopathy 1	Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Urinary retention, Malnutrition, M...	OMIM:155310
Premature Ovarian Failure 15	Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ...	OMIM:618096
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co...	ORPHA:3337
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Autosomal Dominant Progressive External Ophthalmoplegia	Limb muscle weakness, Myopathy, Arrhythmia, Cognitive impairment, Ataxia, Hypomimic face, Dysphag...	ORPHA:254892
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Erythrocyte Lactate Transporter Defect	Exercise-induced muscle fatigue	OMIM:245340
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Dimethylglycine Dehydrogenase Deficiency	Increased muscle fatiguability	ORPHA:243343
X-Linked Intellectual Disability, Cilliers Type	Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased serum t...	ORPHA:163971
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec...	ORPHA:168563
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hypertriglyceridemia, Hypertension, Increased C-peptide level, Decre...	OMIM:615238
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone...	OMIM:617442
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal ga...	ORPHA:1876
Ethylene Glycol Poisoning	Metabolic acidosis, Hematuria, Pulmonary edema, Euphoria, Ataxia, Tachycardia, Cerebral edema, Hy...	ORPHA:31826
Young-Onset Parkinson Disease	Diarrhea, Depression, Gastroparesis, Frontal lobe dementia, Short attention span, Restless legs, ...	ORPHA:2828
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Acute Intermittent Porphyria	Mental deterioration, Proximal muscle weakness in lower limbs, Diarrhea, Dark urine, Nausea and v...	ORPHA:79276
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ...	OMIM:615300
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contr...	ORPHA:70
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Increased circulating lactate concentration, Gastroesophageal reflux, Ventricular bigeminy, Gastr...	OMIM:610131
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating...	OMIM:619761
Chromosome Xq27.3-Q28 Duplication Syndrome	Hypogonadism, Decreased serum testosterone concentration, Decreased testicular size, Cryptorchidi...	OMIM:300869
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Depr...	OMIM:157640
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop...	ORPHA:231720
Spermatogenic Failure 25	Cryptozoospermia, Decreased testicular size, Non-obstructive azoospermia, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Decreased testicular size, Non-obstructive azoospermia, Male i...	OMIM:619528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, T...	ORPHA:96184
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete...	ORPHA:398079
Porphyria, Acute Intermittent	Diarrhea, Depression, Vomiting, Urinary retention, Dysuria, Elevated urinary delta-aminolevulinic...	OMIM:176000
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
46,Xx Sex Reversal 1	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Azoospermia, True hermaphro...	OMIM:400045
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema...	ORPHA:755
Dimethylglycine Dehydrogenase Deficiency	Increased muscle fatiguability	OMIM:605850
Premature Ovarian Failure 11	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea	OMIM:616946
Hereditary Coproporphyria	Nephropathy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Da...	ORPHA:79273
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Pyloric Stenosis, Infantile Hypertrophic, 1	Failure to thrive, Pyloric stenosis	OMIM:179010
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Mueller-Weiss Syndrome	Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A...	ORPHA:566943
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Increased muscle glycogen c...	ORPHA:368
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Snakebite Envenomation	Epistaxis, Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Cardiogenic shock, Pseudobul...	ORPHA:449285
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian...	OMIM:250790
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Atherosclerosis Susceptibility	Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration	OMIM:108725
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Serotonin Syndrome	Mental deterioration, Hepatic failure, Diarrhea, Hypotension, Acute kidney injury, Confusion, Lac...	ORPHA:43116
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Increased muscle fatiguability, Weakness of facial musculature	OMIM:616323
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:289548
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ...	OMIM:300845
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Gastropare...	OMIM:614052
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Encopresis, Emotional lability, Obsessive-com...	ORPHA:66624
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula...	ORPHA:411593
Cholera	Hypovolemic shock, Hypotension, Vomiting, Diarrhea, Acute kidney injury, Acidosis, Abnormal blood...	ORPHA:173
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	High palate, Bilateral cryptorchidism, Pyloric stenosis	ORPHA:314575
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora...	OMIM:277320
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Camptoda...	OMIM:309000
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Mitochondrial Complex I Deficiency, Nuclear Type 26	Increased circulating lactate concentration, Distal amyotrophy, Metabolic acidosis, Limb hyperton...	OMIM:618247
Meningioma	Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu...	ORPHA:2495
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr...	OMIM:305400
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Myocardial infarction, Hypertriglyceridemia	OMIM:604091
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertension, Hypertriglyceri...	OMIM:610947
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q...	OMIM:613980
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Acidosis, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal ins...	OMIM:137950
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Macroglossia, Hypopituitarism, Decreased circulating T4 concentratio...	ORPHA:226307
Mitochondrial Complex I Deficiency, Nuclear Type 13	Acidosis, Vomiting, Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, M...	OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas...	OMIM:619048
49,Xxxyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:261534
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De...	ORPHA:243
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diab...	ORPHA:79085
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased circulating lactate concentration, Gastroesophageal reflux, Decreased liver function, C...	ORPHA:70472
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyp...	OMIM:615703
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Hypokalemic Periodic Paralysis	Exercise-induced muscle fatigue, Increased intramyocellular lipid droplets, Abnormal muscle fiber...	ORPHA:681
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
3-Methylglutaconic Aciduria, Type I	Dementia, Short attention span, 3-Methylglutaconic aciduria, Self-mutilation, Metabolic acidosis,...	OMIM:250950
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Type I diabetes mellitus, Elevated circulating luteinizing hormone level, Decreased serum testost...	ORPHA:3044
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi...	ORPHA:398069
Cocaine Intoxication	Rhabdomyolysis, Hematuria, Colitis, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephr...	ORPHA:90068
Fg Syndrome 3	Cryptorchidism, Pyloric stenosis	OMIM:300406
Lactase Deficiency, Congenital	Diarrhea, Metabolic acidosis, Lactose intolerance, Decreased small intestinal mucosa lactase leve...	OMIM:223000
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed...	ORPHA:52901
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I...	OMIM:231095
Combined Oxidative Phosphorylation Deficiency 30	Gastroesophageal reflux, Decreased liver function, Polymicrogyria, Respiratory distress, Elevated...	OMIM:616974
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil...	ORPHA:210110
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Exercise-induced muscle fatigue, Rhabdomyolysis	ORPHA:2364
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Multiple Mitochondrial Dysfunctions Syndrome 3	Lactic acidosis, Hyperglycinemia, Metabolic acidosis, Irritability, Beta-aminoisobutyric aciduria...	OMIM:615330
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Renal in...	OMIM:619386
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Motor stereotypy, Cognitive impairment, Motor deterioration, Prog...	ORPHA:79264
Gitelman Syndrome	Rhabdomyolysis, Ataxia, Abdominal pain, Renal potassium wasting, Polydipsia, Renal magnesium wast...	OMIM:263800
Acute Transverse Myelitis	Impaired vibratory sensation, Urinary retention, Somatic sensory dysfunction, Urinary bladder sph...	ORPHA:139417
Epidermolysis Bullosa, Junctional 1B, Severe	Failure to thrive, Pyloric stenosis	OMIM:226700
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef...	OMIM:612124
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Diarrhea, Depression, Abnormal fear-induced behavior, Increased fecal ...	ORPHA:100924
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Vomiting, Lactic acidosis, Metabolic acidosis, Irrit...	OMIM:618226
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Rhabdomyolysis, Metabolic acidosis, Arrhythmia, Myoglobinuria, Urinary inconti...	ORPHA:94093
Acute Peripheral Arterial Occlusion	Acidosis, Abnormal capillary physiology, Paresthesia, Supraventricular tachycardia, Limb muscle w...	ORPHA:90064
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Increased muscle fatiguability, Myopathy	OMIM:613077
Perrault Syndrome 1	Increased circulating gonadotropin level, High palate, Gonadal dysgenesis, Primary amenorrhea	OMIM:233400
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Hypertriglyceridemia, Decreased serum leptin, Insulin-resistant diab...	ORPHA:435651
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Normosmic Congenital Hypogonadotropic Hypogonadism	Absence of pubertal development, Non-obstructive azoospermia, Cryptorchidism, Increased female li...	ORPHA:432
Hsd10 Disease	Ataxia, Elevated urinary 3-hydroxybutyric acid, Chronic lactic acidosis, Short attention span, Ga...	ORPHA:391417
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter	OMIM:615770
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Lactic acidosis, Metabolic acidosis, Aggressive behavior, Elevated c...	OMIM:300438
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
Immunodeficiency, Common Variable, 10	Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Cent...	OMIM:615577
Sulfite Oxidase Deficiency, Isolated	Ataxia, Sulfocysteinuria, Decreased urinary sulfate, Metabolic acidosis, Elevated circulating cre...	OMIM:272300
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Elevated circulating creatine k...	ORPHA:435660
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Pyloric stenosis, Upper limb mus...	OMIM:616924
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Porphyria Variegata	Chronic kidney disease, Proximal muscle weakness in upper limbs, Somatic sensory dysfunction, Ile...	ORPHA:79473
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Hsd10 Disease, Neonatal Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Metabolic acid...	ORPHA:391457
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Vomiting, Diarrhea, Glycosuria, Metabolic ketoacidosis, Hypophosphatemic rickets, Proteinuria, He...	ORPHA:263455
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Hsd10 Disease, Infantile Type	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	ORPHA:391428
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
Kleine-Levin Syndrome	Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Irritabili...	ORPHA:33543
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Alaninuria, Increased circulating lactate concentration, Metabolic acidosis	OMIM:615158
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Periventricular Nodular Heterotopia	Aortic regurgitation, Gastroesophageal reflux, Abnormal heart valve morphology, Periventricular h...	ORPHA:98892
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:309120
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:609441
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Obesity, Decreased fertility, Cryptorchidism, Ectopic ...	ORPHA:3138
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r...	OMIM:615373
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul...	OMIM:144750
Pure Mitochondrial Myopathy	Quadriceps muscle weakness, Shoulder girdle muscle weakness, Exercise-induced muscle fatigue, Rha...	ORPHA:254854
Pyruvate Dehydrogenase Phosphatase Deficiency	Gait ataxia, Lactic acidosis, Dysphagia, Feeding difficulties	OMIM:608782
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de...	OMIM:611490
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density	OMIM:620366
Mercury Poisoning	Hypotension, Acute kidney injury, Confusion, Hypokalemia, Episodic abdominal pain, Nausea, Episod...	ORPHA:330021
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Metabolic acid...	OMIM:619445
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ke...	OMIM:616878
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 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Hypothyroidism, Small for gestational age, Pyloric stenosis	OMIM:256300
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Dehydration, I...	OMIM:615237
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Exercise-induced muscle fatigue, Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Ventricular es...	ORPHA:1344
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Pyloric stenosis	OMIM:218350
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib...	OMIM:611493
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
46,Xy Sex Reversal 5	Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma...	OMIM:613080
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h...	OMIM:202150
Tetanus	Elevated urinary norepinephrine level, Elevated circulating creatine kinase concentration, Hypert...	ORPHA:3299
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Hydroxykynureninuria	Hypotension, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Metabolic aci...	ORPHA:79155
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Vomiting, Diarrhea, Proximal tubulopathy, Lactic acidosis, Gait ataxia, Progressiv...	OMIM:612075
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Lactic acidosis, Metabolic acidosis, Nonimmune hydrops fetalis, Hyperprolinemia, ...	OMIM:619003
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Fg Syndrome Type 1	Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Slender buil...	ORPHA:93932
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Metabolic acidosis, Myo...	OMIM:618237
Trisomy 18P	High, narrow palate, Bilateral cryptorchidism, Pyloric stenosis	ORPHA:1715
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Emoti...	OMIM:223900
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Increased level of methylsuccin...	ORPHA:26792
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart fai...	ORPHA:363705
Mgat2-Cdg	Gastroesophageal reflux, Gastroparesis, Gastrostomy tube feeding in infancy, Reflex asystolic syn...	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
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Beta-Ketothiolase Deficiency	Ataxia, Acidosis, Hypotension, Vomiting, Diarrhea, Ketonuria, Edema, Dehydration, Increased circu...	ORPHA:134
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ...	ORPHA:684
Central Diabetes Insipidus	Diarrhea, Depression, Polydipsia, Nocturia, Nausea and vomiting, Hyponatremia, Anorexia, Dehydration	ORPHA:178029
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia	ORPHA:397685
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Vomiting, Diarrhea, Acute kidney injury, Heart block, Reduced left ventricular eject...	ORPHA:542323
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen...	OMIM:600785
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Reduced social reciprocity, Micropenis, Increased serum ...	ORPHA:8
Mitochondrial Complex I Deficiency, Nuclear Type 33	Increased circulating lactate concentration, Oligohydramnios, Lactic acidosis, Hyperammonemia, Me...	OMIM:618253
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Agitation, Decreased circulating free fatty acid level...	ORPHA:276556
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density	ORPHA:37748
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Meckel diverticulum, Failure to thrive, Pyloric stenosis	OMIM:616395
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Hypertension, Hypertriglyceridemia	ORPHA:71529
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Metabolic acidosis, Hematuria, Feeding difficulties in infancy, D...	OMIM:277400
Glycogen Storage Disease Vii	Exercise-induced muscle fatigue, Increased variability in muscle fiber diameter, Gout, Increased ...	OMIM:232800
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Aganglionic megacolon, Micropenis, Tachycardia, Flexion ...	OMIM:613870
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Hereditary Geniospasm	Chin myoclonus, Abnormal social behavior	ORPHA:53372
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Cryptorchidism, Pyloric stenosis	ORPHA:169189
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gastroparesis, Gait ataxia, Urinary incontinence, Truncal ataxia, Bowel incontinence, Choreoathet...	OMIM:618877
Prader-Willi Syndrome	Vomiting, Xerostomia, Gastroparesis, Impaired temperature sensation, Polyphagia, Attention defici...	ORPHA:739
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Ziegler-Huang Syndrome	Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p...	OMIM:620501
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Intermittent lactic acidemia, Hyperlipidemia, Irritability, Proteinu...	ORPHA:369
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Feeding difficulties, Rhabdomyolysis, Metabolic ac...	ORPHA:26791
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Abnormal heart morphology, Congenital diap...	ORPHA:261197
Methanol Poisoning	Vomiting, Diarrhea, Confusion, Permanent atrial fibrillation, Inflammatory arteriopathy, Hyperlip...	ORPHA:31825
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption, Hypoproteinemia	OMIM:221400
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Vomiting, Diarrhea, Increased urinary glycerol, Intermittent lactic ...	ORPHA:348
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:613327
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Malonyl-Coa Decarboxylase Deficiency	Vomiting, Diarrhea, Dilated cardiomyopathy, Elevated urine suberic acid level, Methylmalonic acid...	OMIM:248360
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Hyp...	OMIM:618419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Cong...	OMIM:614096
Xp21 Deletion Syndrome	Decreased muscle mass, Recurrent otitis media, Myopathy, Calf muscle hypertrophy, Increased muscl...	ORPHA:261476
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Rhabdomyolysis, Elevated circulating creatine kinase concentratio...	OMIM:145600
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Scorpion Envenomation	Diarrhea, Rhabdomyolysis, Pulmonary edema, Premature ventricular contraction, Arrhythmia, Ataxia,...	ORPHA:466677
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Agitation, Decreased circulating free fatty acid level...	ORPHA:276575
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis	OMIM:188025
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly, Pyloric stenosis	ORPHA:664
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hyperphosphatemia, Hematuria, Acute tubulointerstitial nephriti...	ORPHA:340
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Gastroesophageal reflux, Vomiting, Decreased muscle mass, Paresthesia, Lactic acidosis,...	ORPHA:298
Hypogonadism, Male	Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis	OMIM:241100
Microvillus Inclusion Disease	Nephrocalcinosis, Diarrhea, Abdominal distention, Abnormal renal physiology, Villous atrophy, Met...	ORPHA:2290
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Lactic acidosis, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left v...	OMIM:540000
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Increased circulating lactate concentration, Memory impairment, Low...	OMIM:619737
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive heart failure, Hype...	ORPHA:280365
Congenital-Onset Steinert Myotonic Dystrophy	Gastroesophageal reflux, Diarrhea, Myotonia, Bundle branch block, Obesity, Encopresis, Decreased ...	ORPHA:589821
Mitochondrial Complex I Deficiency, Nuclear Type 29	Increased muscle fatiguability, Failure to thrive	OMIM:618250
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Vomiting, Skeletal muscle atrophy, Hypertrophic card...	OMIM:618228
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Macroglossia, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseu...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Macroglossia, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseu...	ORPHA:352665
Dihydrolipoamide Dehydrogenase Deficiency	Ketoacidosis, Decreased liver function, Hypertrophic cardiomyopathy, Lactic acidosis, Metabolic a...	OMIM:246900
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hypertriglyceridemia, Abnormal circulating hormone concentration, Hypertension,...	ORPHA:280356
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Myopathy, Centronuclear, X-Linked	High palate, Cryptorchidism, Pyloric stenosis	OMIM:310400
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Dicarboxylic aciduria, Hyperammonemia, Rhabd...	OMIM:212138
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Horseshoe kidney, Gastroparesis, Vesicoureteral ref...	OMIM:616368
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis, Episodic vomiting, Ataxia, Hepatomegaly, Feeding difficulties	OMIM:618224
Glycosylphosphatidylinositol Biosynthesis Defect 17	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Bilater...	OMIM:618010
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo...	OMIM:300048
Zellweger Syndrome	Clitoral hypertrophy, Failure to thrive, Primary adrenal insufficiency, Cryptorchidism, High pala...	ORPHA:912
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Agitation, Polyphagia, Syncope, Hepatomegaly, Tachycar...	ORPHA:276580
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Vomiting, Diarrhea...	OMIM:230400
Corticosteroid-Binding Globulin Deficiency	Increased muscle fatiguability	OMIM:611489
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Lactic acidosis, Limb muscle weakness, Facial diplegia, Ragged-red muscle fibers, ...	OMIM:609560
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Mitochondrial Complex I Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Congestive heart failure, Hypertrophic cardiomyopath...	OMIM:618234
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased circulating lactate concentration, Cardiomyopathy, Lactic acidosis, Splenomegaly, Metab...	OMIM:619046
Encephalopathy, Progressive, With Or Without Lipodystrophy	Myoclonus, Seizure, Hypertriglyceridemia	OMIM:615924
Dihydropyrimidinase Deficiency	Elevated circulating thymine concentration, Elevated urinary thymine level, Elevated urinary dihy...	OMIM:222748
Hyperinsulinism Due To Hnf1A Deficiency	Feeding difficulties, Palpitations, Agitation, Polyphagia, Syncope, Hepatomegaly, Tachycardia, In...	ORPHA:324575
Lipoyltransferase 1 Deficiency	Increased circulating lactate concentration, Decreased liver function, Increased total bilirubin,...	OMIM:616299
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Sengers Syndrome	Mental deterioration, Exercise-induced lactic acidemia, Increased circulating lactate concentrati...	OMIM:212350
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Exercise-induced muscle fatigue, Rhabdomyolysis, Myopathy	ORPHA:713
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Vomiting, Dilated cardiomyopathy, Increased circulating free fatty acid l...	ORPHA:26793
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Tubular l...	ORPHA:84081
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Ochoa Syndrome	Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena...	ORPHA:2704
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti...	ORPHA:860
Xp22.3 Microdeletion Syndrome	Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Ectopic anus, Secondary a...	ORPHA:1643
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary...	ORPHA:93101
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes...	OMIM:607641
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V...	OMIM:613838
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Pyloric stenosis	OMIM:617219
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Tetralogy of Fallot, Resp...	ORPHA:1199
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Increased circulating lactate concentration, Vomiting, Diarrhea, Dilated cardiomyopathy, Chorea, ...	OMIM:618321
Methylmalonyl-Coa Epimerase Deficiency	Gastroesophageal reflux, Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarni...	OMIM:251120
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Hypouricemia, Chronic kidney disease, Metabolic acidosis, Hypophosphatem...	ORPHA:411634
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Mental deterioration, Increased circulating lactate concentration, Hypertrophic cardiomyopathy, T...	OMIM:619051
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Increased circulating lactate concentration, Skeletal muscle atrophy, Ragged-red muscle fibers, R...	OMIM:617070
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath...	OMIM:201475
Marden-Walker Syndrome	High, narrow palate, Cryptorchidism, Zollinger-Ellison syndrome, Micropenis, High palate, Hypospa...	OMIM:248700
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism	OMIM:275120
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
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	Self-injurious behavior, Abnormal temper tantrums, Bulimia, Gastroparesis, Impaired temperature s...	ORPHA:98793
Mitochondrial Myopathy, Infantile, Transient	Increased circulating lactate concentration, Decreased circulating carnitine concentration, Lacti...	OMIM:500009
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnut...	ORPHA:2494
Sepsis In Premature Infants	Hypotension, Vomiting, Diarrhea, Oliguria, Decreased liver function, Functional abnormality of th...	ORPHA:90051
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon...	OMIM:194072
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Self-injurious behavior, Abnormal temper tantrums, Bulimia, Gastroparesis, Impaired temperature s...	ORPHA:177904
Short Qt Syndrome 1	Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud...	OMIM:609620
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Self-injurious behavior, Abnormal temper tantrums, Bulimia, Gastroparesis, Impaired temperature s...	ORPHA:177901
Necrobiosis Lipoidica	Granuloma, Telangiectasia of the skin, Diabetes mellitus, Abnormality of neutrophil physiology	ORPHA:542592
Koolen-De Vries Syndrome	High, narrow palate, Cryptorchidism, Overfriendliness, Hypothyroidism, Narrow palate, Hypospadias...	ORPHA:96169
Kallmann Syndrome	Abnormal morphology of female internal genitalia, Breast hypoplasia, Hypothalamic gonadotropin-re...	ORPHA:478
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Metabolic acidosis, Irritability, Hepatomegaly, Tachycardia	OMIM:229700
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Combined Oxidative Phosphorylation Deficiency 10	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Ascites, Oligohydramnio...	OMIM:614702
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc...	ORPHA:157798
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Combined Oxidative Phosphorylation Deficiency 32	Increased circulating lactate concentration, Gastroesophageal reflux, Horseshoe kidney, Lactic ac...	OMIM:617664
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Congenital lactic acidosis, Increased circulating lactate concentration, Vomiting, Oligohydramnio...	OMIM:615824
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Syndromic Recessive X-Linked Ichthyosis	Hypogonadism, Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Hypohidrosis	ORPHA:281090
Cystinosis	Nephropathy, Aminoaciduria, Vomiting, Polydipsia, Malabsorption, Portal hypertension, Renal insuf...	ORPHA:213
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Diarrhea, Vomiting, Metabolic acidosis, Hyponatremia, Feeding difficulties in infanc...	OMIM:264350
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract...	OMIM:619461
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased circulating lactate concentration, Skeletal muscle atrophy, Ragged-red muscle fibers, W...	OMIM:617069
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Self-injurious behavior, Abnormal temper tantrums, Bulimia, Gastroparesis, Impaired temperature s...	ORPHA:98754
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Left ventricular hypertrophy, Abnormal renal corticomedullary differentiati...	OMIM:616733
Lujo Hemorrhagic Fever	Mental deterioration, Diarrhea, Metabolic acidosis, Periorbital edema, Elevated circulating C-rea...	ORPHA:319213
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ...	ORPHA:95619
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity	ORPHA:140941
Griscelli Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Jaundice, Pyloric stenosis	ORPHA:381
Combined Malonic And Methylmalonic Acidemia	Acidosis, Vomiting, Memory impairment, Methylmalonic aciduria, Ketoacidosis, Dicarboxylic aciduri...	ORPHA:289504
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Relapsing Fever	Epistaxis, Hypotension, Vomiting, Diarrhea, Acute kidney injury, Abnormality of the urinary syste...	ORPHA:91547
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea...	ORPHA:785
Familial Hyperaldosteronism Type Iii	Epistaxis, Polydipsia, Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Metabolic alkal...	ORPHA:251274
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Dysphagia	ORPHA:247604
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Ragged...	OMIM:613561
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca...	ORPHA:3208
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Gastroesophageal reflux, Vomiting, Eosinophilic microabscess formation in the esophagus, Esophagi...	ORPHA:411696
Acquired Methemoglobinemia	Acidosis, Vomiting, Confusion, Palpitations, Abdominal pain, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Hydroureter, Hypernatremia, Functional abnormality of the bladder, Polydipsia,...	ORPHA:223
Type 1 Diabetes Mellitus	Polydipsia, Ketoacidosis, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Kennedy Disease	Testicular atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction	ORPHA:481
Colchicine Poisoning	Diarrhea, Metabolic acidosis, Arrhythmia, Hypophosphatemia, Abnormal blood ion concentration, Ren...	ORPHA:31824
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Hepatic failure, Decreased circula...	ORPHA:159
Combined Oxidative Phosphorylation Deficiency 47	Increased circulating lactate concentration, Metabolic acidosis, Hepatomegaly, Dysphagia, Dehydra...	OMIM:618958
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Myotonic Dystrophy 2	Handgrip myotonia, Decreased circulating IgG level, Insulin insensitivity, Myotonia, Palpitations...	OMIM:602668
Lowry-Maclean Syndrome	High, narrow palate, Bilateral cryptorchidism, Midgut malrotation, Hypospadias, Cleft palate, Pyl...	ORPHA:2409
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin...	OMIM:102200
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology, Dysphagia	OMIM:611637
Combined Oxidative Phosphorylation Deficiency 9	Increased circulating lactate concentration, Elevated serum anion gap, Ketoacidosis, Hypertrophic...	OMIM:614582
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation...	OMIM:616201
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Myopat...	ORPHA:91130
Myofibrillar Myopathy 10	Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Percussion myotonia,...	OMIM:619040
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Vomiting, Polydipsia, Megacystis, Hypertonic dehydration, Irritability, Feeding difficulties in i...	OMIM:125800
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ...	OMIM:619468
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Multiple Symmetric Lipomatosis	Insulin resistance, Paresthesia	ORPHA:2398
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Vomiting, Polydipsia, Megacystis, Hypertonic dehydration, Irritability, Feeding difficulties in i...	OMIM:304800
Wild Type Attr Amyloidosis	Aortic valve stenosis, Nephropathy, Orthostatic hypotension due to autonomic dysfunction, Pulmona...	ORPHA:330001
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Hypertrophic cardiomyopathy, Lactic acidosis...	OMIM:607426
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Increased circulating lactate concentration, E...	OMIM:614458
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Anteriorly placed anus, Bifid scrotum, Cryptorchidism, Anal atresia, H...	OMIM:619148
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Arrhythmia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating c...	OMIM:616516
Congenital Fibrinogen Deficiency	Volvulus, Cyanosis, Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Micropeni...	ORPHA:335
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy, Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Increased circulating lactate concentration, Gastroesophageal reflux, Skeletal mus...	OMIM:612073
Combined Oxidative Phosphorylation Deficiency 28	Severe lactic acidosis, Increased circulating lactate concentration, Congestive heart failure, Ra...	OMIM:616794
Bacterial Toxic-Shock Syndrome	Diarrhea, Metabolic acidosis, Glomerulonephritis, Abdominal pain, Tachycardia, Increased circulat...	ORPHA:36234
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Polydipsia, Irritability	ORPHA:30925
3P25.3 Microdeletion Syndrome	High, narrow palate, Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect...	ORPHA:435638
Cardiogenic Shock	Mitral regurgitation, Metabolic acidosis, Arrhythmia, Elevated jugular venous pressure, Hepatomeg...	ORPHA:97292
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased circulating lactate concentration, Lactic acidosis, Hyperprolinemia, Hyperalaninemia, L...	ORPHA:79246
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Metabolic acidosis, Hypokale...	OMIM:611590
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase...	OMIM:300280
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Episodic ketoacidosis, Lactic acidosis, Ketoacidosis	OMIM:236795
Stormorken Syndrome	Increased muscle fatiguability, Myopathy	OMIM:185070
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Houge-Janssens Syndrome 1	Facial hypotonia, Pyloric stenosis, Congenital muscular torticollis	OMIM:616355
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Gastroesophageal reflux, Congestive heart failure, Hypertrophic cardiomyo...	ORPHA:3342
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal heart morphology, Low frustration tolerance, Patent foramen ovale, Ventricular septal de...	ORPHA:457279
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Abnormal urine sebacic acid concentration, Metabolic acidosis, Low plasma citrulline, Hypoornithi...	OMIM:615751
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Propionic Acidemia	Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Cardiomyopathy, Lactic acid...	OMIM:606054
East Syndrome	Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ...	ORPHA:199343
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Increased circulating lactate concentration, Hyperglycinemia, Lactica...	OMIM:619063
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Hyperhidrosis, Cryptorchidism	ORPHA:2617
Glucose/Galactose Malabsorption	Glycosuria, Hyperactive bowel sounds, Malabsorption, Metabolic acidosis, Abdominal distention, Ch...	OMIM:606824
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart...	ORPHA:52430
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased circulating lactate concentration, Vomiting, Metabolic acidosis, Irritability, Progress...	ORPHA:88639
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Edema, ...	ORPHA:97362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Micropen...	OMIM:613156
Oxoglutarate Dehydrogenase Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Gait ataxia, Dysmetria, ...	OMIM:203740
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Dysdiadochokinesis, Polydipsia, Hypomagnesemia, Elevated serum bicarbona...	OMIM:612780
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Wolfram Syndrome	Nephropathy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Polydipsia, Cardiomy...	ORPHA:3463
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Osteopetrosis, Autosomal Recessive 1	Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Osteopetrosis, Ca...	OMIM:259700
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased...	OMIM:616943
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis	OMIM:215045
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Tachycardia, Agitation	ORPHA:276608
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Osteomyelitis, Hepa...	OMIM:259710
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Vomiting, Diarrhea, Elevated urinary 3-hydroxybutyri...	OMIM:605911
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Abdominal pain,...	ORPHA:563
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic...	OMIM:160800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Increased circulating lactate concentration, Diarrh...	OMIM:246450
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia, Myopathy, Skeletal muscle atrophy	ORPHA:2597
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Facial diplegia, Paucity of ante...	OMIM:611890
Severe Neurodegenerative Syndrome With Lipodystrophy	Seizure, Hyperinsulinemia, Myoclonus, Hypertriglyceridemia, Hypertension, Status epilepticus	ORPHA:363400
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Hypotension, Vomiting, Nephrotic syndrome, Acute kidney inju...	ORPHA:85445
Whipple Disease	Ataxia, Gastrointestinal hemorrhage, Diarrhea, Depression, Hypotension, Polydipsia, Malabsorption...	ORPHA:3452
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy	OMIM:183020
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Kleefstra Syndrome	Gastroesophageal reflux, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Ventric...	ORPHA:261494
Marburg Hemorrhagic Fever	Diarrhea, Anorexia, Abdominal pain, Tachycardia, Shock, Elevated circulating creatinine concentra...	ORPHA:99826
Infantile Nephropathic Cystinosis	Aminoaciduria, Acidosis, Vomiting, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hype...	ORPHA:411629
Occipital Horn Syndrome	High, narrow palate, Gastroesophageal reflux, Recurrent urinary tract infections, Gastroparesis, ...	ORPHA:198
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Metabolic acidosis, Hyperalaninemia, Ataxia, High palate, Increased serum pyruvate	OMIM:245349
Dysosteosclerosis	Craniofacial hyperostosis, Recurrent fractures, Coarse metaphyseal trabecularization, Increased b...	ORPHA:1782
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Metabolic acidosis	OMIM:231900
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Tachypnea, Elevat...	ORPHA:1329
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Increased circulating lactate concentration, Ele...	OMIM:614105
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Gastroesophageal reflux, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Si...	OMIM:617182
Secondary Short Bowel Syndrome	Vomiting, Diarrhea, Volvulus, Malnutrition, Malabsorption, Villous atrophy, Abnormal small intest...	ORPHA:95427
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Increased circulating lactate concentration, Depression, Cardiomyopathy, Limb muscle weakness, Ra...	OMIM:609286
Combined Oxidative Phosphorylation Deficiency 23	Increased circulating lactate concentration, Dilated cardiomyopathy, Congestive heart failure, Hy...	OMIM:616198
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Increased circulating lactate concentration, Ketonuria, Hypertrophic cardiomyop...	OMIM:619053
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Polydipsia, Nephrolithiasis, Hypokalemia, Pulmon...	ORPHA:369929
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lactic acidosis, Metabol...	OMIM:615026
Distal Renal Tubular Acidosis	Diarrhea, Renal potassium wasting, Aminoaciduria, Polydipsia, Alkaline urine, Hypermagnesiuria, H...	ORPHA:18
Liver Failure, Infantile, Transient	Hypoalbuminemia, Increased circulating lactate concentration, Vomiting, Dicarboxylic aciduria, Ac...	OMIM:613070
Osteopetrosis, Autosomal Recessive 8	Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia	OMIM:615085
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased circulating lactate concentration, Diarrhea, Vomiting, Confusion, Hyperammonemia, Metab...	OMIM:620137
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Bicarbonate-wasting renal tubular acidosis, Hyperamylasemia, Metabolic acidosis, Hypokalemia, Hyp...	OMIM:604278
D-Glyceric Aciduria	Aminoaciduria, Gastroesophageal reflux, Metabolic acidosis, Tongue thrusting, Bradycardia, Microp...	OMIM:220120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Elevated serum anion gap, Ketoacidosis, Lactic...	OMIM:618120
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hypertension, Diabetes mellitus	ORPHA:79084
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra...	ORPHA:234
Immunodeficiency 77	Gastroparesis	OMIM:619223
Isovaleric Acidemia	Hyperglycinuria, Vomiting, Ketoacidosis, Metabolic acidosis, Cerebellar hemorrhage, Elevated urin...	OMIM:243500
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Absent vas deferens, Abnormality of exocrine pancreas physiology, Aplasia/Hypoplasia...	ORPHA:93111
Renal Glucosuria	Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria	OMIM:233100
Koolen-De Vries Syndrome	Narrow palate, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Bicuspid aortic ...	OMIM:610443
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Feeding difficulties in infancy, Macroscopi...	OMIM:248250
Melas	Nephropathy, Diarrhea, Intestinal pseudo-obstruction, Myopathy, Ataxia, Focal segmental glomerulo...	ORPHA:550
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Generalized osteosclerosi...	ORPHA:53
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Chronic constipation, Skin-picking, Attention deficit hyperactivity disorder...	ORPHA:485405
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Handgrip myotonia, Myotonia, Impaired vibration sensation in the lower limbs, Paresthesia, Percus...	ORPHA:324442
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Paresthes...	ORPHA:36913
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Myotonia Congenita, Autosomal Recessive	Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic runs, Dysphagia	OMIM:255700
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Polydipsia, Palpitations, Increased urinary potassium, Decreased circulating renin lev...	ORPHA:231580
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Increased circulating lactate concentration, Lactic acidosis, Hypocalcemia,...	OMIM:606407
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Familial Dysautonomia	Gastroesophageal reflux, Impaired pain sensation, Renal insufficiency, Hyponatremia, Feeding diff...	ORPHA:1764
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased circulating lactate concentration, Episodic ataxia, Chronic lactic acidosis, Lactic aci...	OMIM:312170
Combined Oxidative Phosphorylation Deficiency 1	Increased circulating lactate concentration, Fulminant hepatic failure, Metabolic acidosis, Hepat...	OMIM:609060
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Vomiting, Distal renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hyper...	OMIM:602722
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria, Increased circulating lactate concentration, Elevated circulating 2-trans,4-cis-d...	OMIM:616034
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus	OMIM:612227
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Increased circulating lactate concentration, Glycosuria, Decreased liver function,...	OMIM:220110
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Nemaline bodies, Increased endomysial connective ...	OMIM:620265
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync...	OMIM:163800
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Lactic acidosis, Organic aciduria	OMIM:617184
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Myopathy, Metabolic acidosis, Hematuria, Hypophosp...	OMIM:219800
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation...	OMIM:613205
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria	OMIM:606996
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lactic acidosis, Bradycardia, Micropenis, Fl...	OMIM:618815
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Feeding difficulties, Metabolic acidosis, Arrhythmia, Myoglobinuria, Hepat...	ORPHA:228308
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Anasarca, Hypomagn...	OMIM:618183
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Cryptorchidism, Midgut malrotation, Micropenis, Cleft palate, Pyloric stenosis	OMIM:263750
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased circulating lactate concentration, Feeding difficulties in infancy, Metabolic acidosis	OMIM:610090
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Gastroesophageal reflux, Lactic acidosis, Metabol...	OMIM:615595
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea...	ORPHA:91347
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Vomiting, Atrial flutter, Congestive hear...	ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased circulating lactate concentration, Lactic acidosis, Dysphagia	OMIM:618230
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Obesity, Abnormal hypothalamus morphology,...	OMIM:614963
Paroxysmal Extreme Pain Disorder	Tachycardia, Impaired pain sensation, Bradycardia	OMIM:167400
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Increased circulating lactate concentration, Vomiting, Ketonuria, Ketoacidosis, Acute hepatic fai...	OMIM:615453
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Necrotizing myopathy, Acute hepatic failure, Supraventric...	ORPHA:423
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased circulating lactate concentration, Second degree atrioventricular bloc...	OMIM:617021
Hypertriglyceridemia 1	Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Nasogastric tube feeding,...	ORPHA:1018
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal...	ORPHA:3032
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Increased circulating lactate concentration, I...	OMIM:619224
Mitochondrial Pyruvate Carrier Deficiency	Increased circulating lactate concentration, Organic aciduria, Lactic acidosis, Hepatomegaly, Inc...	OMIM:614741
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased circulating lactate concentration, Elevated circulating sebacic acid concentration, Ele...	OMIM:615160
Familial Hypoaldosteronism	Hypotension, Diarrhea, Increased circulating renin level, Nausea and vomiting, Metabolic acidosis...	ORPHA:427
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v...	OMIM:616501
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri...	ORPHA:99106
Alg1-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Cardiomyopathy, Decreased liver function, Renal insu...	ORPHA:79327
2Q37 Microdeletion Syndrome	Supernumerary nipple, Obesity, Pyloric stenosis	ORPHA:1001
Necrotizing Enterocolitis	Acidosis, Hypotension, Diarrhea, Vomiting, Increased circulating lactate concentration, Hypoactiv...	ORPHA:391673
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di...	OMIM:256100
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased circulating lactate concentration, Vomiting, Metabolic acidosis, Ataxia, Increased seru...	OMIM:618225
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Renal insufficiency, Decreased circulating renin level, Hypokalemia...	ORPHA:320
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Metabolic acidosis, Decreased circulating renin level, Hypokalemia, Hypercalciuria, P...	OMIM:613677
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Hawkinsinuria	Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacet...	ORPHA:2118
Tyrosinemia, Type I	Acute hepatic failure, Metabolic acidosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal h...	OMIM:276700
Pediatric-Onset Graves Disease	Diarrhea, Polydipsia, Sinus tachycardia, Congestive heart failure, Palpitations, Nausea and vomit...	ORPHA:525731
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Thin bony cortex, Increased bone mineral density, Wide anterior fontanel	ORPHA:85184
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification, Wide a...	ORPHA:163649
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ke...	ORPHA:480864
Amish Lethal Microcephaly	Organic aciduria, Cleft soft palate, Metabolic acidosis, Irritability, Limb hypertonia, Hepatomeg...	ORPHA:99742
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Malabsor...	OMIM:557000
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Holocarboxylase Synthetase Deficiency	Vomiting, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Lactic acidosis, Hype...	OMIM:253270
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr...	OMIM:613876
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Atypical Rett Syndrome	Episodic tachypnea, Inappropriate laughter, Functional abnormality of the gastrointestinal tract,...	ORPHA:3095
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Lactic acidosis, Decreased liver function	ORPHA:67048
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ataxia, Hypotension, Diarrhea, Dilated cardiomyopathy, Ketonuria, Dehy...	ORPHA:20
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased circulating lactate concentration, Metabolic acidosis, Irritability	OMIM:617290
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Heart murmur, Cyanosis, Subm...	ORPHA:3426
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Gitelman Syndrome	Diarrhea, Nausea and vomiting, Rhabdomyolysis, Urinary incontinence, Ventricular fibrillation, Ab...	ORPHA:358
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract...	OMIM:620152
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Vomiting, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Lacti...	ORPHA:436271
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid, Vomiting, Abdominal colic, Paresthesia	OMIM:612740
Metachromatic Leukodystrophy	Addictive behavior, Dementia, Abnormal stomach morphology, Emotional lability, Gastrostomy tube f...	ORPHA:512
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperinsulinemia, T...	OMIM:604367
Crimean-Congo Hemorrhagic Fever	Diarrhea, Nausea and vomiting, Emotional lability, Hematuria, Anorexia, Hepatomegaly, Abdominal p...	ORPHA:99827
Dyrk1A-Related Intellectual Disability Syndrome	Gastroesophageal reflux, Small for gestational age, Failure to thrive, Breast hypoplasia, Cryptor...	ORPHA:464306
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Increased circulating lactate concentration, Edema, Proteinuria, Decreased level...	OMIM:614652
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Dilated cardiomyopa...	OMIM:252011
3-Methylglutaconic Aciduria, Type Ix	3-Methylglutaric aciduria, Increased circulating lactate concentration, 3-Methylglutaconic acidur...	OMIM:617698
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Muscular dystrophy, Type II lissencephaly, Left ventricular hypertrophy, Pachygyria, Agyria, Liss...	OMIM:613153
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Depressi...	OMIM:613954
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Cirrhosis, Telangiectasi...	ORPHA:779
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
46,Xy Sex Reversal 7	Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon...	OMIM:233420
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Depression, Memory impairment, Urinary bladder sphincter dysfunction, Dysesthesia, G...	ORPHA:93256
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Lactic acidosis, Irritability, Athetosis, Feeding difficulties	OMIM:618241
Leber Optic Atrophy And Dystonia	Increased circulating lactate concentration, Skeletal muscle atrophy, Dementia, Athetosis, Dysphagia	OMIM:500001
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Congestive heart failure	OMIM:301021
Childhood-Onset Spasticity With Hyperglycinemia	Spinal cord lesion, Left ventricular hypertrophy, Irritability	ORPHA:401866
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Increased circulating lactate concentration, Skeletal muscle atrophy, Lower limb muscle weakness,...	OMIM:616479
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Myopathy, Elevated circulating creatine kinase concentration	ORPHA:408
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Hypertrigl...	ORPHA:2088
Majeed Syndrome	Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong...	ORPHA:77297
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial...	OMIM:613874
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Respiratory distress, Cyanosis, Tachypnea, Tubulointerstitial fibrosis	OMIM:263000
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Lethal Infantile Mitochondrial Myopathy	Severe lactic acidosis, Renal insufficiency, Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Malabsorption, Abnormal small intestinal mucosa morphology, Nausea, Abdominal distentio...	ORPHA:103907
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Hypoplasia of the uterus, Female infertility, Amenorrhea, Increased circu...	OMIM:110100
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Pyloric stenosis	OMIM:614438
Danon Disease	Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon...	OMIM:300257
Graft Versus Host Disease	Vomiting, Diarrhea, Skeletal muscle atrophy, Hepatosplenomegaly, Hyperbilirubinemia, Dupuytren co...	ORPHA:39812
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Villous atrophy...	OMIM:615863
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Arthrogryposis multiplex congenita, Glycosuria, Ren...	OMIM:613404
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Vomiting, Diarrhea, Methylmalonic aciduria, Cardiomyopathy, Dehydration, Metabolic ketoacidosis, ...	OMIM:251000
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Distal Deletion 12Q	High, narrow palate, Microglossia, Pituitary adenoma, Maturity-onset diabetes of the young, Annul...	ORPHA:96149
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Immunodeficiency 32B	Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosino...	OMIM:226990
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re...	ORPHA:2260
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Pyruvate Carboxylase Deficiency	Increased circulating lactate concentration, Athetosis, Lactic acidosis, Hyperalaninemia, Proxima...	OMIM:266150
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Increased circulating lactate concentration, Oroticaciduria, Lactic acidosis, Hyperglycinemia, Hy...	OMIM:620358
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypospadias, Gastroesophageal reflux, Failure to thrive in infancy, Decreased response to growth ...	ORPHA:268261
Combined Oxidative Phosphorylation Deficiency 5	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Ascites, Lactic acidosi...	OMIM:611719
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Hype...	OMIM:617228
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Vomiting, Decreased liver function, Rhabdomyolysis, Metabolic acidosis, Myoglobinuria, Dehydration	OMIM:602199
Diastrophic Dysplasia	Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger	ORPHA:628
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Premature ventricular contraction, Syncope, Tachycardia, Posteriorly...	OMIM:192445
Marshall-Smith Syndrome	Anteriorly placed anus, Apnea, Cervical cord compression, Ventricular septal defect, Premature ve...	OMIM:602535
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Increased circulating lactate concentration, Gastroesophageal reflux, Type 2 muscle fiber predomi...	OMIM:615471
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Seizure, Hypertriglyceridemia	OMIM:603552
Avian Influenza	Myelitis, Elevated circulating hepatic transaminase concentration, Acute kidney injury, Hepatitis...	ORPHA:454836
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Severe lactic acidosis, Macroglossia, Decreased circulating carnitine concentration, Ragged-red m...	ORPHA:254864
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass, Upper limb muscle weakn...	ORPHA:263297
Semilobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Decreased respon...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Decreased respon...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Decreased respon...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Decreased respon...	ORPHA:93924
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Anteriorly placed anus, Intestinal malrotation, Cryptorchidism, Ana...	OMIM:305450
Brody Disease	Percussion myotonia, Myotonia, Somatic sensory dysfunction	OMIM:601003
Cirrhotic Cardiomyopathy	Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p...	ORPHA:57777
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Mitochondrial Complex I Deficiency, Nuclear Type 17	High, narrow palate, Increased circulating lactate concentration, Skeletal muscle atrophy, Lactic...	OMIM:618239
Alpha-Heavy Chain Disease	Ascites, Malabsorption, Abnormal small intestine morphology, Hypocalcemia, Splenomegaly, Hepatome...	ORPHA:100025
Chronic Granulomatous Disease	Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Pyloric stenosis	ORPHA:379
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Limb muscle weakness, S...	OMIM:604320
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Dysphagia, Bradycardia	OMIM:616276
Pyruvate Dehydrogenase E1-Alpha Deficiency	Congenital lactic acidosis, Increased circulating lactate concentration, Gastroesophageal reflux,...	ORPHA:79243
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Increased circulating lactate concentration, Tricuspid regur...	OMIM:620300
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Ascites, Nausea and vomiting, Arrhythmia, Gastrointestinal...	ORPHA:139411
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu...	OMIM:614954
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia	OMIM:246650
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Ascites, Malabsorp...	ORPHA:2070
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, He...	OMIM:619487
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr...	OMIM:611067
Glycogen Storage Disease Iv	Hepatic failure, Skeletal muscle atrophy, Edema, Cardiomyopathy, Ascites, Abnormal circulating cr...	OMIM:232500
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Protein-losing enteropathy, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin...	OMIM:175500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Respiratory distress, Facial hypotonia, Heart mu...	ORPHA:308552
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Irritability, Constipation, Limb hypertonia, Join...	ORPHA:35708
Pituitary Gigantism	Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth...	ORPHA:99725
Pituitary Carcinoma	Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol...	ORPHA:300385
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Small scrotum, Im...	OMIM:181450
Leigh Syndrome	Feeding difficulties, 3-Methylglutaconic aciduria, Myopathy, Ataxia, Nephrotic syndrome, Dysphagi...	ORPHA:506
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Joint hypermobility, Limitation of knee mobility, Osteoporosis, R...	OMIM:614856
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Malignant Hyperthermia, Susceptibility To, 4	Acidosis, Rhabdomyolysis	OMIM:600467
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abdominal obesity, Hypertension, Diabetes mellitus	OMIM:615980
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula...	ORPHA:444013
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Abnormal urinary color, Congestive heart failure, Splenomegaly, Tachyc...	ORPHA:90037
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Decre...	OMIM:232240
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Metabolic acidosis, Ataxia, Anorexia, Hepatomegaly, Elevated lactate...	ORPHA:3008
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Abnormal hemidiaphragm morphology, Ureteral stenosis, Apnea, Cyano...	ORPHA:2257
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, High, narrow palate, Depression, Camptodactyly of finger, Ankyloglossia, Tr...	ORPHA:261330
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio...	OMIM:611705
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, Tachypnea, Hepatomegaly	OMIM:614299
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Diarrhea, Vomiting, Dehydration, Metabolic acidosis, Hyponatremia, Hyperkalemia, Fee...	OMIM:177735
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Rhabdomyolysis, Ele...	OMIM:618416
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Nephronophthisis 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R...	OMIM:604387
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Hypokalemic met...	OMIM:241200
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Infant Acute Respiratory Distress Syndrome	Hypotension, Cyanosis, Tachypnea, Bradycardia, Tachycardia, Cardiac arrest, Nasal flaring, Hypoxemia	ORPHA:70587
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia	OMIM:612840
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Vomiting, Decreased circulating carnitine concentration, Medium chain dicarboxyl...	OMIM:201450
Spinocerebellar Ataxia With Epilepsy	Increased circulating lactate concentration, Depression, Acute hepatic failure, Gait ataxia, Dysm...	ORPHA:254881
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra...	OMIM:600081
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Hypospadias, Small hypothenar eminence, Contracture of the prox...	ORPHA:2872
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level...	ORPHA:247768
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Abnormal upper motor neuron morphology, Dysphagia, Pseudobulbar par...	OMIM:606353
Nephronophthisis 9	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts	OMIM:613824
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Annular pancreas, In...	ORPHA:2308
Jacobsen Syndrome	Annular pancreas, Failure to thrive, Cryptorchidism, Labial hypoplasia, Hypospadias, Clitoral hyp...	OMIM:147791
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Bifid uvula, Vomiting, Dilated cardiomyopathy, Rhabdomyolysis, Elev...	OMIM:614921
Pyridoxine-Dependent Epilepsy	Restlessness, Lactic acidosis, Feeding difficulties, Irritability	ORPHA:3006
Osteogenesis Imperfecta, Type X	Respiratory distress, Nephrolithiasis, Pyloric stenosis	OMIM:613848
Coenzyme Q10 Deficiency, Primary, 4	Increased circulating lactate concentration, Lactic acidosis, Decreased level of coenzyme Q10 in ...	OMIM:612016
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Seckel Syndrome 10	Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle...	OMIM:617253
Coenzyme Q10 Deficiency, Primary, 5	Increased circulating lactate concentration, Lactic acidosis, Decreased level of coenzyme Q10 in ...	OMIM:614654
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte...	OMIM:619079
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Combined Oxidative Phosphorylation Deficiency 38	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Hypera...	OMIM:618378
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Increased circulating lactate concentration, Skeletal muscle atrophy, Cardiomyopathy, Lactic acid...	OMIM:617710
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont...	OMIM:609040
Boucher-Neuhauser Syndrome	Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration	OMIM:215470
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo...	ORPHA:93284
Myotonic Dystrophy 1	Atrial flutter, Myotonia, First degree atrioventricular block, Atrial fibrillation, Dysphagia	OMIM:160900
Frontotemporal Dementia With Motor Neuron Disease	Depression, Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Dysph...	ORPHA:275872
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Mitochondrial Complex I Deficiency, Nuclear Type 34	Feeding difficulties in infancy, Lactic acidosis, Metabolic acidosis	OMIM:618776
Acute Lung Injury	Diffuse alveolar hemorrhage, Shock, Respiratory distress, Tachypnea, Acute pancreatitis, Hypoxemia	ORPHA:178320
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev...	ORPHA:64743
Apert Syndrome	Bifid uvula, Cryptorchidism, Ectopic anus, Esophageal atresia, Hyperhidrosis, Vaginal atresia, Na...	OMIM:101200
Lipodystrophy, Familial Partial, Type 1	Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:608600
Thyrotoxic Periodic Paralysis	Lower limb muscle weakness, Exercise-induced muscle fatigue, Obesity, Rhabdomyolysis, Weight loss...	ORPHA:79102
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Tachypnea, Pulmonary arterial hy...	OMIM:614857
Cornelia De Lange Syndrome 1	High, narrow palate, Renal hypoplasia, Gastroesophageal reflux, Elbow flexion contracture, Reduce...	OMIM:122470
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Unilateral renal agenesis, Gastroesophageal reflux, Horseshoe kidney, Gastroparesis,...	ORPHA:500150
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Citrullinemia Type Ii	Hypoalbuminemia, Seizure, Decreased HDL cholesterol concentration, Delayed menarche, Hyperlipidem...	ORPHA:247585
Andersen-Tawil Syndrome	Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular...	ORPHA:37553
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Severe lactic acidosis, Increased circulating lactate concentration, Lactic acidosis, Feeding dif...	OMIM:616111
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Myotonia, Ventricular escape rhythm, Obesity, Sup...	ORPHA:98855
Smith-Lemli-Opitz Syndrome	Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Hepatomegaly, Vent...	OMIM:270400
Poliomyelitis	Hypovolemic shock, Hypotension, Vomiting, Hypoplasia of the musculature, Skeletal muscle atrophy,...	ORPHA:2912
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Mental deterioration, Hypomethioninemia, Metabolic acidosis, Ataxia, Delirium, Stomatitis, Methyl...	ORPHA:79282
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano...	ORPHA:555874
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Myotonia, Hypertrophic cardiomyopathy, Ventricula...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Myotonia, Hypertrophic cardiomyopathy, Ventricula...	ORPHA:98853
Citrullinemia Type I	Tachypnea, Gastroesophageal reflux, Hepatic failure, Torticollis	ORPHA:247525
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Increased circulating lactate...	OMIM:605711
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Nephrocalcinosis, Polydipsia, Renal hamartoma, Shortened QT interval, Hypercalcemia...	ORPHA:99880
Cardiospondylocarpofacial Syndrome	Gastroesophageal reflux, Horseshoe kidney, Gastroparesis, Vesicoureteral reflux, Mitral regurgita...	OMIM:157800
Acquired Partial Lipodystrophy	Insulin resistance, Lymphocytosis	ORPHA:79087
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Depression, Gastroesophageal reflux, D...	ORPHA:89842
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Increased serum bile acid concentration, Hepatoblastoma, Cognitive impairment...	ORPHA:731
Mirizzi Syndrome	Vomiting, Abdominal colic, Anorexia, Hyperbilirubinemia, Dark urine, Abdominal pain, Abdominal di...	ORPHA:521219
Isolated Atp Synthase Deficiency	Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Lactic acidosis, Hyperammo...	ORPHA:254913
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia, Decreas...	OMIM:618620
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Lactic acidosis, Bloody diarrhea, Feeding difficulties	OMIM:615119
Arima Syndrome	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Hy...	OMIM:243910
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Ppoma	Gastrointestinal hemorrhage, Intestinal carcinoid, Pituitary adenoma, Increased circulating corti...	ORPHA:97278
High Altitude Pulmonary Edema	Pulmonary edema, Tachycardia, Nausea and vomiting, Anorexia	ORPHA:330012
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Vomiting, Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentrat...	OMIM:600649
Blue Diaper Syndrome	Nephrocalcinosis, Diarrhea, Hyperphosphatemia, Metabolic acidosis, Blue urine, Hypercalcemia	ORPHA:94086
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Hyperkalemic Periodic Paralysis	Myotonia, Congestive heart failure, Paresthesia, Arrhythmia, Bowel incontinence	ORPHA:682
Osteopathia Striata-Cranial Sclerosis Syndrome	Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Spina bifida occulta, I...	ORPHA:2780
Plague	Inflammation of the large intestine, Diarrhea, Depression, Vomiting, Hypotension, Splenomegaly, I...	ORPHA:707
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Increased circulating lactate concentration, Cardiomyopathy, Decreased liver fu...	OMIM:614922
Mitochondrial Myopathy With Lactic Acidosis	Increased circulating lactate concentration, Elevated serum anion gap, Lactic acidosis, Dysmetria...	OMIM:251950
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Systolic heart mur...	ORPHA:2299
Distal Myopathy, Tateyama Type	Percussion-induced rapid rolling muscle contractions, Palpitations	ORPHA:488650
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Dilated cardiomyopathy, Ketonuria, Tricuspid regurgitation, Left ventricular noncompactio...	OMIM:619167
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Pulmonary hemorrhage, Tachypnea, Crescentic glomerulonephritis	OMIM:616414
Parathyroid Carcinoma	Peptic ulcer, Nephrocalcinosis, Polydipsia, Renal hamartoma, Shortened QT interval, Hypercalcemia...	ORPHA:143
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Ataxia	OMIM:266130
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Polydipsia, Hyperphosphaturia, Splenomegaly, Feeding difficulties in infancy, Hypo...	OMIM:239200
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Diabetes mellitus, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Vomiting, Increased level of hippur...	OMIM:248600
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Lactic acidosis, Renal tubular acidosis, Rag...	OMIM:530000
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Myotonia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Obesity...	ORPHA:98863
Obesity Due To Sim1 Deficiency	Hypotension, Memory impairment, Postural hypotension with compensatory tachycardia, Polyphagia, A...	ORPHA:369873
Fabry Disease	Diarrhea, Vomiting, Congestive heart failure, Transient ischemic attack, Paresthesia, Angina pect...	OMIM:301500
Marden-Walker Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystro...	ORPHA:2461
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Diarrhea, Hepatosplenomegaly, Pancytopenia, Portal hype...	ORPHA:98850
Bronchogenic Cyst	Abnormal stomach morphology, Paresthesia, Abnormal esophagus morphology, Abnormality of the diaph...	ORPHA:2357
Microcephaly, Amish Type	Lactic acidosis, Irritability, Limb hypertonia, Hepatomegaly, Flexion contracture, Poor suck	OMIM:607196
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype...	ORPHA:3077
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis	ORPHA:94089
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormality of the urethra, Polydipsia, Acute hepatic failure, Dysur...	ORPHA:537
Hepatic Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Dysphagia, Lower limb muscle weakness	ORPHA:2590
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Bifid uvula, Abnormal heart valve morphology, Facial ...	ORPHA:169186
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Morgagni diaphragmatic hernia, Gastroesophageal reflux, Multiple bladder divert...	OMIM:613177
Meningococcal Meningitis	Hypotension, Shock, Paresthesia, Renal insufficiency, Irritability, Anorexia, Elevated circulatin...	ORPHA:33475
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Vomiting, Diarrhea, Skeletal muscle atrophy, Cardiomyopathy, Lactic acidosis, Renal tubular acido...	ORPHA:264580
Methylmalonic Aciduria, Cblb Type	Vomiting, Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Elevated circulating propion...	OMIM:251110
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Feeding difficulties, 3-Methylglutaconic aciduria...	ORPHA:17
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Lactic acidosis, Hyperalaninemia, At...	OMIM:615917
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hematochezia, Self-injurious behavior, Head-banging, Frequent temper tantrum...	OMIM:619575
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Nausea and vomiting, Fatal liver failure in infancy, Cognitive impa...	ORPHA:275761
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Protruding to...	OMIM:619488
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Tangier Disease	Distal amyotrophy, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Hepatomegaly, Myo...	OMIM:205400
1P36 Deletion Syndrome	Abnormality of the spleen, Hepatic steatosis, Myopathy, Telangiectasia, Abnormal intestine morpho...	ORPHA:1606
Joubert Syndrome 7	Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cyst, Tachypnea, Cent...	OMIM:611560
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea, Meckel diverticulum, Dysphagia	ORPHA:163961
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Paresthesia, Myotonia, Episodic ataxia	OMIM:108500
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Myotonia, Dysmetria, Ataxia, Impaired vibration sensation at ankles...	OMIM:615491
Mogs-Cdg	Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Cardiomegaly, Left ventricular ...	ORPHA:79330
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Grfoma	Gastrointestinal hemorrhage, Intestinal carcinoid, Pituitary adenoma, Increased circulating corti...	ORPHA:97261
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachycardia, Tachypnea, Hypoxemia	ORPHA:264675
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Skeletal muscle atroph...	OMIM:615895
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Episodic ataxia, Gait ataxia, Dysmetria, Wolff-Parkinson-White syndrome, Ataxia, Truncal ataxia, ...	OMIM:601338
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Di...	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 18	Increased circulating lactate concentration, Skeletal muscle atrophy, Methylmalonic aciduria, Oli...	OMIM:615578
Methylmalonic Aciduria, Cbla Type	Vomiting, Ketonuria, Methylmalonic aciduria, Elevated serum anion gap, Hyperglycinemia, Hyperammo...	OMIM:251100
Joubert Syndrome 30	Gray matter heterotopia, Tachypnea, Apnea, Polymicrogyria	OMIM:617622
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Feeding difficulties, Lactic acidosis, Ataxi...	OMIM:602473
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant...	ORPHA:90301
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Tachypnea, Secund...	OMIM:620203
Stiff-Person Syndrome	Depression, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Hypert...	OMIM:184850
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Increased circulating lactate concentration, Elevated circulating crea...	OMIM:617872
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Congestive heart failure, Paresthesia, Paroxysmal atrial tachycardia, Anorexia, Cardiac...	ORPHA:49827
Chylomicron Retention Disease	Hypoalbuminemia, Impaired vibratory sensation, Diarrhea, Vomiting, Hypotriglyceridemia, Malnutrit...	OMIM:246700
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased muscle mass, Decreased glomerular filtration rate, ...	OMIM:232200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ...	OMIM:241530
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Dilated cardiomyopathy, Lymphopenia, Dysmetria, Truncal obesity, Ataxia, Anem...	OMIM:616541
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Seizure, Increased circulating ferritin concentration, Increased total bilirubin...	OMIM:267700
Somatostatinoma	Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol level, Increased c...	ORPHA:97283
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Nausea, Proteinuria, Syncope, Orthostatic hypotension, Abdomina...	ORPHA:71273
Acute Adrenal Insufficiency	Hypotension, Diarrhea, Renal salt wasting, Increased circulating renin level, Nausea and vomiting...	ORPHA:95409
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Intestina...	OMIM:243150
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor...	ORPHA:251937
Neuroendocrine Tumor Of The Rectum	Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp...	ORPHA:100082
Legionnaires Disease	Ataxia, Hypotension, Diarrhea, Nausea and vomiting, Renal insufficiency, Splenomegaly, Hematuria,...	ORPHA:549
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hyperchloriduria, Polydipsia, Hypernatriuria, Decr...	OMIM:602522
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Decreased muscle mass, Elbow contracture, Hip contracture, ...	OMIM:617137
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Pearson Syndrome	Hypophosphatemia, Ataxia, Hepatomegaly, Dysphagia, Elevated lactate:pyruvate ratio, Increased cir...	ORPHA:699
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Imerslund-Gräsbeck Syndrome	Vomiting, Proteinuria, Constipation, Tachycardia, Glossitis, Poor appetite	ORPHA:35858
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Hype...	OMIM:604377
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric...	OMIM:115195
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m...	ORPHA:464343
Cholesteryl Ester Storage Disease	Adrenal calcification, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Neuroendocrine Tumor Of The Colon	Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Hypoactive bowel sounds, Pr...	ORPHA:100080
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c...	ORPHA:79083
Osteopetrosis, Autosomal Recessive 5	Undetectable visual evoked potentials, Extramedullary hematopoiesis, Cranial hyperostosis, Hepato...	OMIM:259720
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone...	ORPHA:64739
Combined Oxidative Phosphorylation Deficiency 33	Nephrotic syndrome, Increased circulating lactate concentration, Cardiomyopathy, Oligohydramnios,...	OMIM:617713
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Vomiting, Diarrhea, Proximal tubulo...	OMIM:602579
Mitochondrial Trifunctional Protein Deficiency	Lower limb muscle weakness, Cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ch...	ORPHA:746
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence, Abnormal upper motor neuron morphology, Euphoria, Inappropriate behavior	OMIM:221770
Rippling Muscle Disease 1	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Vomiting, Decreased circulating carnitine concentration, Organic aciduria, Keton...	OMIM:210210
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,...	OMIM:615184
Congenital Generalized Lipodystrophy	Precocious puberty in females, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsuli...	ORPHA:528
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy...	OMIM:615355
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Mitochondrial Complex I Deficiency, Nuclear Type 14	Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis, Myopathy	OMIM:618236
Septo-Optic Dysplasia Spectrum	Polydipsia, Tracheoesophageal fistula, Constipation, Esophageal atresia, Hypoplasia of penis, Cle...	ORPHA:3157
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Urethral diverticulum, Small bowel diverticula, Congestive heart fa...	ORPHA:90349
Paramyotonia Congenita	Handgrip myotonia, Percussion myotonia, Paradoxical myotonia	OMIM:168300
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Syncope, Dysphagia	ORPHA:60032
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Pain insensitivity, Elevated circulating hexacosanoic acid concentration, Increased circulating l...	OMIM:614388
D-Glyceric Aciduria	Hyperglycinuria, Increased circulating free fatty acid level, Chorea, Hyperglycinemia, Metabolic ...	ORPHA:941
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia, Lactic acidosis, Nephrolithiasis	ORPHA:163693
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Macroglossia, Nephrotic syndrome, Congestive heart failure, Hypertrophic cardiom...	ORPHA:505248
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Vomiting, Diarrhea, Dilated cardiomyopathy, Decrease...	ORPHA:71212
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Vomiting, Metabolic acidosis, Hyponatremia, Feeding difficulties in infancy, A...	ORPHA:171876
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:603358
Ileal Neuroendocrine Tumor	Arrhythmia, Abnormal bowel sounds, Functional intestinal obstruction, Right ventricular failure, ...	ORPHA:100078
Hereditary Angioedema Type 1	Facial edema, Hypotension, Vomiting, Diarrhea, Tongue edema, Paresthesia, Laryngeal edema, Nausea...	ORPHA:100050
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Mitochondrial Complex I Deficiency, Nuclear Type 22	Hypertrophic cardiomyopathy, Lactic acidosis, Elevated lactate:pyruvate ratio	OMIM:618243
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Malabsorption, Villous...	ORPHA:92050
Panhypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95513
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Lactic acidosis, Myopathy, Generalized limb muscle atrophy	ORPHA:2598
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	EMG: myotonic runs, Left ventricular systolic dysfunction, Right ventricular hypertrophy, Abnorma...	ORPHA:353
Familial Cold Urticaria	Polydipsia, Nausea and vomiting, Abdominal pain, Dysesthesia, Dehydration	ORPHA:47045
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Intestinal malrotation	OMIM:601163
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Arthrogryposis multiplex congenita, Reduced renal c...	OMIM:208085
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis, Submucous cleft hard palate, Attention deficit hyperac...	OMIM:619227
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity	OMIM:614662
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures	OMIM:239000
Joubert Syndrome 9	Hepatic fibrosis, Episodic tachypnea, Stage 5 chronic kidney disease, Apnea	OMIM:612285
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea, Hyperchloremic metabolic acidosis, Dehydration	OMIM:610370
Mitochondrial Complex I Deficiency, Nuclear Type 25	Nemaline bodies, Myopathy, Lactic acidosis, Feeding difficulties	OMIM:618246
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Arterial occlusion,...	ORPHA:416
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Truncal obesity	OMIM:620639
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Increased variability in muscle fiber diameter, Lactic acidosis, Increased intramyocellular lipid...	OMIM:619065
Brain-Lung-Thyroid Syndrome	Megacystis, Chorea, Abnormal eating behavior, Short attention span, Vesicoureteral reflux, Abnorm...	ORPHA:209905
Episodic Ataxia Type 1	Nausea, Myotonia, Choreoathetosis	ORPHA:37612
Paget Disease Of Bone 6	Left ventricular hypertrophy, Nephrocalcinosis	OMIM:616833
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, Type II diabetes mell...	ORPHA:91
Familial Hyperaldosteronism Type I	Epistaxis, Polydipsia, Hypokalemia, Nausea, Intracranial hemorrhage, Hypertension	ORPHA:403
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Increased circulating cortisol level, Pituitary...	OMIM:131100
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Congestive heart failur...	OMIM:609015
Dopamine Beta-Hydroxylase Deficiency	Exercise-induced muscle fatigue, Rhinitis	ORPHA:230
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Methylmalonic aciduria, Lactic acidosis, Hyperglycinemia, Lacticaciduria...	OMIM:245400
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Vomiting, Diarrhea, Renal insufficiency, Hyperuricemia, ...	ORPHA:469
Cornelia De Lange Syndrome	Gastroesophageal reflux, Failure to thrive, Volvulus, Abnormality of the uterus, Intestinal malro...	ORPHA:199
Ethylmalonic Encephalopathy	Diarrhea, Lactic acidosis, Ethylmalonic aciduria, Ataxia	ORPHA:51188
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Diarrhea, Dehydration, Abnormal circul...	ORPHA:103910
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Respiratory distress, Contracture of the distal interphala...	ORPHA:83617
Chediak-Higashi Syndrome	Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recur...	OMIM:214500
Rippling Muscle Disease 2	Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:606072
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Myotonia, Potassium-Aggravated	Handgrip myotonia, Myotonia, Percussion myotonia	OMIM:608390
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Seizure, Hypertriglyceridemia	OMIM:620603
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Microglossia, Atrioventricular canal defec...	ORPHA:818
Hawkinsinuria	Metabolic acidosis, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia, Restlessnes...	OMIM:140350
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Pulmonary Hypertension, Primary, 5	Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr...	OMIM:265400
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Hypercholesterolemia, Seizure, Hypertriglyceridemia	OMIM:182290
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis, Muscular dystrophy	OMIM:204730
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Abnormal urinary color, Increased total bilirubin	ORPHA:90036
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Myotonia	ORPHA:371
Pheochromocytoma/Paraganglioma Syndrome 4	Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catecholamine level...	OMIM:115310
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Addison Disease	Hypotension, Diarrhea, Renal salt wasting, Celiac disease, Nausea and vomiting, Hyperkalemic meta...	ORPHA:85138
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Small for gestational age, Failure to thrive	OMIM:214150
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Rhabdomyolysis, Ataxia, Delirium, Hyperkalemia, Acute kidney injury, Hypocalce...	ORPHA:466650
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Vomiting, Diarrhea, Skeletal muscle atrophy, Lactic acidosis, Renal tubular acidosis, Rhabdomyoly...	ORPHA:79240
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, 3-Methylglutaconic ...	OMIM:614739
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Neuroendocrine Neoplasm Of Appendix	Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Adenocarcinoma of the ...	ORPHA:100079
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Dysphagia, Amyotrophic lateral s...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Dysphagia, Amyotrophic lateral s...	OMIM:616437
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Hypertrophic cardiomyopathy, Lactic acidosis, Myopathy	ORPHA:1369
Tularemia	Confusion, Tachycardia, Pleural effusion	ORPHA:3392
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Respiratory distress, Tachypnea, Hypoxemia	ORPHA:36238
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Oligosacchariduria, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Respirat...	ORPHA:365
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Tachypnea, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Metabolic acidosis,...	OMIM:616026
Camurati-Engelmann Disease	Sclerosis of skull base, Anemia, Cortical thickening of long bone diaphyses, Increased bone miner...	OMIM:131300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Ataxia, Increased circulating lactate concentration, Depression, Elevated lactate:...	OMIM:124000
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter...	ORPHA:300751
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Abnormal urinary color, Splenomegaly, Congestive heart failure	ORPHA:90033
Mccune-Albright Syndrome	Precocious puberty, Irregular menstruation, Gastroesophageal reflux, Increased circulating cortis...	ORPHA:562
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Lactic acidosis, Congestive heart failure	OMIM:615440
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Increased circulating lactate concentration, Glycosuria, Exocrine pancreatic insufficiency, Hyper...	OMIM:616539
Myotonia Fluctuans	Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ...	ORPHA:99734
Noonan Syndrome 7	Hypertrophic cardiomyopathy, Feeding difficulties in infancy, Abnormal esophagus morphology, Cogn...	OMIM:613706
Beta-Ureidopropionase Deficiency	Increased circulating lactate concentration, Elevated urinary ureidopropionic acid level, Metabol...	OMIM:613161
Infant Botulism	Hypotension, Xerostomia, Hypertension, Hyponatremia, Constipation, Anorexia, Abdominal pain, Card...	ORPHA:178478
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Diarrhea, Peptic ulcer, Splenomegaly, Nausea, Syncope, Hepatomegaly, Abdominal pain,...	ORPHA:98849
Chédiak-Higashi Syndrome	Ataxia, Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural kille...	ORPHA:167
Intrinsic Factor Deficiency	Paresthesia, Somatic sensory dysfunction, Reduced haptoglobin level, Absence of intrinsic factor	OMIM:261000
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Lactic acidosis, Feeding difficulties	OMIM:618229
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Increased circulating lactate concentration, Skel...	OMIM:255125
Joubert Syndrome With Oculorenal Defect	Nephropathy, Apnea, Renal insufficiency, Abnormality of neuronal migration, Aganglionic megacolon...	ORPHA:2318
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Lactic acidosis, Cardiomegaly, Hypospadias	OMIM:620135
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di...	OMIM:259730
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Splenomegaly, Nonspherocytic hemolytic anemia, Ataxia, Sensory atax...	OMIM:613470
Neuroendocrine Tumor Of Stomach	Hepatic failure, Lack of bowel sounds, Melena, Right ventricular failure, Hypotension, Protracted...	ORPHA:100075
Bardet-Biedl Syndrome 9	Polyphagia, Polydipsia, Renal insufficiency	OMIM:615986
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Increased circulating lactate concentration, Ketonuria, Lower limb muscle weakness, Lactic acidos...	OMIM:251900
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Depression, Skeletal muscle atrophy, Amyotrophic lateral ...	OMIM:105550
Pyridoxal Phosphate-Responsive Seizures	Increased circulating lactate concentration, Abnormal circulating arginine concentration, Abnorma...	ORPHA:79096
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Mitochondrial Complex I Deficiency, Nuclear Type 37	Increased circulating lactate concentration, Skeletal muscle atrophy, Lactic acidosis, Pulmonary ...	OMIM:619272
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Splenomegaly	OMIM:206400
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia	OMIM:612301
Combined Oxidative Phosphorylation Deficiency 59	Increased circulating lactate concentration, Vomiting, Congestive heart failure, Hypertrophic car...	OMIM:620646
Joubert Syndrome 3	Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Central apnea, Atrial septa...	OMIM:608629
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Temple Syndrome	Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia	OMIM:616222
Yellow Fever	Acute kidney injury, Vomiting, Diarrhea, Anuria, Pancreatic hyperplasia, Shock, Reduced left vent...	ORPHA:99829
Bardet-Biedl Syndrome 17	Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Cognitive impairment, Micropenis	OMIM:615994
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Diabetes...	ORPHA:2348
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Decreased serum insulin-like growth factor 1, Del...	ORPHA:79239
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	OMIM:300009
Glucagonoma	Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol level, Increased c...	ORPHA:97280
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral regurgitat...	ORPHA:230851
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ...	OMIM:613490
Combined Oxidative Phosphorylation Deficiency 7	Increased circulating lactate concentration, Facial paralysis, Skeletal muscle atrophy, Facial di...	OMIM:613559
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis, Aplasia of the left hemidiaphragm, Choreoathetosis, Feeding difficulties	OMIM:618238
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration, Abnormal muscle fiber protein expr...	ORPHA:330054
Pyruvate Dehydrogenase Deficiency	Tachypnea, High palate	ORPHA:765
Hennekam Syndrome	Camptodactyly of finger, Horseshoe kidney, Pachygyria, Splenomegaly, Pericardial effusion, Ectopi...	ORPHA:2136
Immunodeficiency 87 And Autoimmunity	Metabolic acidosis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Atrophic...	OMIM:619573
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea	OMIM:250900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra...	OMIM:264700
Acute Liver Failure	Pain insensitivity, Acidosis, Gastrointestinal hemorrhage, Diarrhea, Depression, Vomiting, Hypote...	ORPHA:90062
Feingold Syndrome Type 1	Nephritis, Renal dysplasia, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Jejunal...	ORPHA:391641
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Nephrocalcinosis, Biventricular hypertrophy, Tricuspid regurgitation, Media...	OMIM:617402
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Lactic acidosis, Reduced systolic function, Hepatomegaly...	OMIM:618805
Mpi-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Dec...	ORPHA:79319
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Telangiectasia of the skin, Diabetes mellitus, Hypertriglyceridemia	OMIM:615381
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Dehydration, Multiple small medullary renal cysts, Hyperechogenic kidneys, Oligohydramnios, Porta...	OMIM:263200
Hemochromatosis, Type 1	Impotence, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Diabetes m...	OMIM:235200
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra...	OMIM:277440
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Increased circulating lactate concentration, Lactic acidosis, Progressive cerebellar ataxia	ORPHA:139485
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Hepatic failure, Ascites, Hyperbilirubinemia, L...	OMIM:606812
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Ascites, Malabsorp...	OMIM:615710
Leigh Syndrome, Nuclear	Increased circulating lactate concentration, Lactic acidosis, Emotional lability, Ataxia	OMIM:256000
Helix Syndrome	Hypermagnesemia, Hypocalciuria, Xerostomia, Polydipsia, Renal insufficiency, Nephrolithiasis, Hyp...	OMIM:617671
Nephronophthisis 4	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul...	OMIM:606966
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Percussion myotonia, Dysphagia	ORPHA:34516
Acetazolamide-Responsive Myotonia	Dysphagia, Myotonia	ORPHA:99736
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Organic aciduria, Irritability	ORPHA:79242
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Acute Interstitial Pneumonia	Cyanosis, Tachypnea, Pericardial effusion, Hypertension, Hypoxemia	ORPHA:79126
Combined Oxidative Phosphorylation Deficiency 2	Increased circulating lactate concentration, Feeding difficulties in infancy, Lactic acidosis, Edema	OMIM:610498
Bloom Syndrome	Insulin resistance, Decreased circulating IgG level, Gastroesophageal reflux, Decreased circulati...	ORPHA:125
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Unilateral renal agenesis, Vomiting, Gastroesophagea...	ORPHA:464311
Systemic Capillary Leak Syndrome	Hypotension, Diarrhea, Oliguria, Renal insufficiency, Pleural effusion, Pulmonary edema, Arrhythm...	ORPHA:188
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Gastroesophageal reflux, Diarrhea, Emotional lability, Irritability, Feeding difficu...	OMIM:608643
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Burkitt Lymphoma	Abnormality of the ovary, Gastrointestinal hemorrhage, Intestinal obstruction	ORPHA:543
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Vomiting, Hyponatremia, Feeding difficulties in infancy, Renal salt wasting, Hyperka...	OMIM:203400
Hyperoxaluria, Primary, Type I	Atrioventricular block, Nephrocalcinosis, Arterial occlusion, Hyperoxaluria, Renal insufficiency,...	OMIM:259900
Timothy Syndrome	Atrioventricular block, Hypocalcemia, Cardiomegaly, Pulmonary arterial hypertension, Ventricular ...	OMIM:601005
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Metabolic acidosis, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating r...	OMIM:620125
Placental Insufficiency	Insulin resistance, Small for gestational age, Abnormal heart morphology	ORPHA:439167
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage...	ORPHA:3093
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Progressive psychomotor deterioration, Lactic acidosis, Gait ataxia, Dysmetria, Cognitive impairm...	ORPHA:1170
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Irritability, Hydronephrosis, Gastrointestinal dysmotility, Micropenis, D...	OMIM:617798
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Oxygen desaturation on exertion, Ventricular septal defect, Tachypnea, Atri...	OMIM:610978
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Rhabdomyolysis	OMIM:188580
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Acidosis, Ketonuria, Beta 2-microglobulinuria, Glycosuri...	OMIM:227810
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Camptodactyly, High palate, Gl...	OMIM:611209
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Splenomegaly	OMIM:618541
Bardet-Biedl Syndrome 1	High, narrow palate, Hepatic fibrosis, Hypogonadism, Biliary tract abnormality, Aganglionic megac...	OMIM:209900
Pituitary Apoplexy	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:95613
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Epistaxis, Impaired neutrophil chemotaxis, Hyposegmentation of neu...	OMIM:260570
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Flexion contracture, Bradycardia, Retinal hemorrhage, Tachycardia, High ...	OMIM:614653
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Increased circulating lactate concentration, Lactic acidosis, Hyperglycinemia, Pulmonary arterial...	OMIM:619059
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, Increased circulating lactate concentration, Skeletal musc...	OMIM:620089
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Familial Chylomicronemia Syndrome	Depression, Pulmonary embolism, Increased circulating chylomicron concentration, Abnormal emotion...	ORPHA:444490
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypopituitarism, Hypoalbuminemia, Hypothyroidism, Hypertriglyceridemia	OMIM:619013
Fryns Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal malrotation, Vesicoureteral ref...	ORPHA:2059
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Vomiting, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Acute hyperammonemia, Feedin...	OMIM:210200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Glycosuria, Hyperlipidemia, Irritability, Abnormality of the gastrointestinal tract	ORPHA:2089
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Achalasia, Nephrotic syndrome, Depressi...	ORPHA:324
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia	OMIM:254950
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Urinary incontinence, Dysphagia, Achilles tendon contracture	OMIM:607225
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Abnormal lower motor neuron morphology,...	ORPHA:93941
Amyotrophic Lateral Sclerosis 2, Juvenile	Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal upper motor n...	OMIM:205100
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
Glutaric Acidemia I	Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Metabolic acidosi...	OMIM:231670
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Increased circulating lactate concentration, Cardiomyopathy, Renal tubula...	ORPHA:324525
Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Dysgyria, Tachypnea, Pulmonary arterial hypertension, Atrial septal defec...	OMIM:613834
Non-Syndromic Posterior Hypospadias	Depression, Urethral diverticulum, Congenital diaphragmatic hernia, Displacement of the urethral ...	ORPHA:95706
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Increased circulating lactate concentration, Hypomagnesemia, Hyperechogen...	OMIM:613845
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Diarrhea, Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia...	ORPHA:247598
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, Small for gestational age	ORPHA:73272
Senior-Loken Syndrome 1	Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn...	OMIM:266900
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea	OMIM:620085
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Increased serum py...	OMIM:617668
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Hypokalemic Periodic Paralysis, Type 2	Myotonia	OMIM:613345
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Urinary incontinence, Distal amyotrophy, Amyotrophic late...	OMIM:602099
Myotonia Permanens	Dysphagia, Myotonia	ORPHA:99735
Reni Syndrome	Hypoalbuminemia, Seizure, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyceridemia	OMIM:617575
Pycnodysostosis	Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Joint hyperm...	ORPHA:763
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational...	ORPHA:79644
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Increas...	ORPHA:289157
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Glossopharyngeal Neuralgia	Depression, Oral-pharyngeal dysphagia, Malnutrition, Dysesthesia, Syncope, Bradycardia, Jaw claud...	ORPHA:221098
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Tubulointerstitial fibrosis, Cognitive impairment,...	ORPHA:79259
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture...	OMIM:224300
Aromatase Deficiency	Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased live...	ORPHA:367
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Gastroesophageal reflux, Multiple joint contractures, Gastrostomy tube feeding in infancy, Irrita...	ORPHA:447997
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,...	OMIM:147060
Yunis-Varon Syndrome	High, narrow palate, Hypospadias, Cardiomyopathy, Pachygyria, Tetralogy of Fallot, Renal artery s...	ORPHA:3472
Atrial Standstill 1	Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra...	OMIM:108770
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Increased circulating lactate concentration, Increased total bilirubin, Fulminan...	OMIM:618528
Senior-Loken Syndrome 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu...	OMIM:606995
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Myotonia	ORPHA:391307
Wars2-Related Combined Oxidative Phosphorylation Defect	Increased circulating lactate concentration, Cardiomyopathy, Lactic acidosis, Dysmetria, Aggressi...	ORPHA:572798
Cirrhosis, Familial	Increased level of L-fucose in urine, Ascites, Pulmonary arterial hypertension, Abdominal distent...	OMIM:215600
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Glycogen Storage Disease Xi	Increased circulating lactate concentration, Renal insufficiency, Rhabdomyolysis, Elevated circul...	OMIM:612933
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Vomiting, Metabolic acidosis, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating reni...	OMIM:620126
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Martinez-Frias Syndrome	Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Hyposp...	OMIM:601346
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Vomiting, Proximal tubulopathy, Glycosuria, Elevate...	OMIM:231680
Glycogen Storage Disease Of Heart, Lethal Congenital	Myopathy, Pulmonary edema, Ventricular fibrillation, ST segment elevation, Hypertrophic cardiomyo...	OMIM:261740
Monosomy 13Q34	Insulin resistance, Hematochezia, Epistaxis, Obesity, Common atrium, Pulmonic stenosis	ORPHA:96168
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Hydrops fetalis, Intestinal atresia, Duodenal atresia	ORPHA:3405
Autosomal Dominant Hypocalcemia	Hypotension, Depression, Hyperphosphatemia, Nephrocalcinosis, Congestive heart failure, Hypomagne...	ORPHA:428
Costello Syndrome	Hypertrophic cardiomyopathy, Renal insufficiency, Mitral valve prolapse, Ventricular septal defec...	OMIM:218040
Spastic Paraplegia 9A, Autosomal Dominant	Gastroesophageal reflux, Abnormal upper motor neuron morphology, Hiatus hernia, Urinary incontine...	OMIM:601162
Thomsen And Becker Disease	Myotonia	ORPHA:614
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Episodic metabolic acidosis, Feeding difficulties, Myopathy, Weakness of facial m...	OMIM:201470
Muscular Dystrophy, Barnes Type	Myotonia	OMIM:158800
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Lactic acidosis, Hydroureter, Feeding difficulties	OMIM:618240
Werner Syndrome	Insulin resistance, Congestive heart failure, Slender build, Type II diabetes mellitus, Telangiec...	ORPHA:902
Liver Disease, Severe Congenital	Diarrhea, Hyperbilirubinemia, Metabolic acidosis, Pulmonary edema, Abdominal distention, Hepatome...	OMIM:619991
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis, Myopathy	OMIM:551000
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Vomiting, Decreased glomerular filtrat...	ORPHA:94088
Glycogen Storage Disease Xv	Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventricular tachycardia, Scapular ...	OMIM:613507
Early-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Dehydration, Renal sodium wasting, Hyponatremia, Orthostatic hypotension, ...	ORPHA:556030
Steinert Myotonic Dystrophy	Mental deterioration, Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Emotion...	ORPHA:273
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Myotonia	OMIM:255710
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Increased circulating lactate concentration, Lactic acidosis, Irritability, Torticollis, Ataxia, ...	OMIM:617186
Hypokalemic Periodic Paralysis, Type 1	Myotonia	OMIM:170400
Knobloch Syndrome	Bifid ureter, Vesicoureteral reflux, Dextrocardia, Pyloric stenosis	ORPHA:1571
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Adult Acute Respiratory Distress Syndrome	Vasculitis, Hypotension, Shock, Metabolic acidosis, Pulmonary edema, Diabetic ketoacidosis	ORPHA:70578
Smith-Magenis Syndrome	Precocious puberty, Seizure, Hypothyroidism, Delayed puberty, Hypercholesterolemia, Hypertriglyce...	ORPHA:819
Familial Adenomatous Polyposis 4	Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Adenomatous colonic po...	OMIM:617100
Pituitary Adenoma 4, Acth-Secreting	Alkalosis, Skeletal muscle atrophy, Abnormal fear-induced behavior, Emotional lability, Nephrolit...	OMIM:219090
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased circulating lactate concentration, Abnormal circulating pyruvate family amino acid conc...	ORPHA:255182
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Seizure, Increased circulating ferritin concentration, Increased total bilirubin...	OMIM:603553
Joubert Syndrome	Polymicrogyria, Episodic tachypnea, Apnea, Situs inversus totalis, Abnormality of neuronal migrat...	ORPHA:475
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Plummer-Vinson Syndrome	Tongue atrophy, Decreased circulating ferritin concentration, Esophageal web, Abdominal pain, Glo...	ORPHA:54028
Enteric Anendocrinosis	Vomiting, Diarrhea, Malabsorption, Portal hypertension, Hyperchloremic metabolic acidosis, Dehydr...	ORPHA:83620
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea	OMIM:267450
Choreoacanthocytosis	Mental deterioration, Muscle fiber atrophy, Emotional lability, Protruding tongue, Hair-pulling, ...	ORPHA:2388
Silver-Russell Syndrome	Insulin resistance, Gastroesophageal reflux, Recurrent hypoglycemia, Failure to thrive in infancy...	ORPHA:813
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Cong...	OMIM:611126
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Williams Syndrome	Mitral regurgitation, Overfriendliness, Ventricular septal defect, Myopathy, Bicuspid aortic valv...	ORPHA:904
Myopathy, X-Linked, With Excessive Autophagy	Myotonia	OMIM:310440
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Abdominal distenti...	OMIM:277900
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Adrenal calcification, Adrenal insufficiency, Increased ...	OMIM:278000
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Telangiectasia, Tachypnea, Raynaud phenomenon	OMIM:615934
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Abdomina...	ORPHA:75233
Combined Oxidative Phosphorylation Deficiency 4	Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis,...	OMIM:610678
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Myotonia	ORPHA:209335
Malignant Hyperthermia, Susceptibility To, 2	Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind...	OMIM:154275
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Decreased liver function, Ascite...	OMIM:608104
Acquired Generalized Lipodystrophy	Cardiomyopathy, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration, Hy...	ORPHA:79086
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Combined Oxidative Phosphorylation Deficiency 48	Increased circulating lactate concentration, Lactic acidosis	OMIM:619012
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Urethrovesical occlusion, Congenital pyloric atresia, Arthrogryposis multiple...	OMIM:226730
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Pseudohypoaldosteronism, Type Iic	Metabolic acidosis, Decreased circulating renin level, Hyperchloremia, Hyperkalemia, Hypertension...	OMIM:614492
Congenital Contractural Arachnodactyly	Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m...	ORPHA:115
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Croh...	OMIM:618935
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di...	OMIM:613550
Alg6-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Decreased LDL cholesterol concentration, Ataxia, Mac...	ORPHA:79320
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Multicystic kidney dysplasia, Renal agenesis, Intestinal m...	ORPHA:2538
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Diarrhea, Malabsorption, Subarachnoid hemorrhage	OMIM:277175
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Malnutrition, Abnormal esophagus morphology, Constipation, Spontaneous esophageal perforation, Fl...	OMIM:226600
Malignant Hyperthermia, Susceptibility To, 3	Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind...	OMIM:154276
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem...	ORPHA:567548
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, An...	ORPHA:412
Brachytelephalangic Chondrodysplasia Punctata	Gastroesophageal reflux, Cervical cord compression, Ventricular septal defect, Tachypnea, Central...	ORPHA:79345
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I...	ORPHA:3467
Hardikar Syndrome	Hepatosplenomegaly, Cleft soft palate, Hyperbilirubinemia, Bilateral cleft palate, Hepatomegaly, ...	OMIM:301068
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Right ventricular failure, Oxygen desaturation on exertion, Decreased fe...	ORPHA:60025
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Insulin-resistant diabetes mellitus, Hyperinsulinemi...	ORPHA:2457
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Bicuspid aortic valve, Chordee, Urinary inco...	ORPHA:2152
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholesterolemia, Hypertr...	OMIM:615812
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Perry Syndrome	Dementia, Hypotension, Depression	ORPHA:178509
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Depression, Polydipsia, Impaired pain sensation, Hyperlipidemia, Emotion...	ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 3	Severe lactic acidosis, Elevated lactate:pyruvate ratio, Increased circulating lactate concentrat...	OMIM:610505
Mitochondrial Complex I Deficiency, Nuclear Type 1	Ataxia, Elevated lactate:pyruvate ratio, Hepatic failure, Vomiting, Skeletal muscle atrophy, Conc...	OMIM:252010
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Duodenal atresia	OMIM:617784
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar...	ORPHA:93672
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Tachypnea	OMIM:615838
Knobloch Syndrome 1	Polymicrogyria, Bifid ureter, Hydronephrosis, Spina bifida occulta, Pyloric stenosis	OMIM:267750
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Hypokalemic met...	OMIM:601678
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis	OMIM:618476
Griscelli Syndrome Type 1	Iris hypopigmentation, Hyperlipidemia, Seizure	ORPHA:79476
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Increased circulating lactate concentration, Lactic acidosis, Met...	OMIM:619055
Isolated Complex I Deficiency	Proximal tubulopathy, Vomiting, Hypertrophic cardiomyopathy, Lactic acidosis, Ataxia, Hepatomegal...	ORPHA:2609
Zebra Body Myopathy	Handgrip myotonia	ORPHA:97240
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Depression	ORPHA:100070
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Ascites, Malabs...	ORPHA:131
Adams-Oliver Syndrome 6	Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:616589
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Myotonia of the upper limb, Dysphagia	ORPHA:3101
Pseudo-Torch Syndrome 2	Ascites, Lactic acidosis, Pleural effusion, Bradycardia, Abnormal renal corticomedullary differen...	OMIM:617397
Desmosterolosis	Increased bone mineral density, Osteopetrosis, Splenomegaly	ORPHA:35107
Kenny-Caffey Syndrome, Type 2	Anemia, Thickened cortex of long bones, Increased bone mineral density	OMIM:127000
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Median cleft palate, Penile hyp...	OMIM:242840
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Hepatic failure, Dilated cardiomyopathy, Increased circulating lactate concentration, Hyp...	ORPHA:255210
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Ketonuria, Anteriorly placed anus, Hypertrophic cardiomyopathy, Mitral atresia, Simp...	OMIM:220111
Familial Glucocorticoid Deficiency	Hypotension, Vomiting, Diarrhea, Hypernatriuria, Recurrent urinary tract infections, Hypertrophic...	ORPHA:361
Late-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Renal sodium wasting, Hyponatremia, Orthostatic hypotension, Hyperkalemia,...	ORPHA:556037
Ogden Syndrome	Diarrhea, Torsade de pointes, Hyperbilirubinemia, Pulmonary edema, Premature ventricular contract...	OMIM:300855
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal ...	OMIM:174000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Ataxia, Pain insensitivity, Hepatic failure, Vomiting, Diarrhea, Skeletal muscle atrophy, Painles...	OMIM:256810
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Elbow flexion contracture, Hypocalcemia, Splenomegaly...	OMIM:618440
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Smal...	OMIM:269880
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Increased circulating lactate concentration, Decreased liver function, Hypertrop...	OMIM:618329
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Vomiting, Nephrocalcinosis, Nasogastric tube feeding...	ORPHA:89938
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra...	OMIM:615558
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Marbach-Rustad Progeroid Syndrome	Insulin resistance, Pulmonary insufficiency, Ventricular septal hypertrophy, Right bundle branch ...	OMIM:619322
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo...	ORPHA:90695
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hypertension, Ataxia, Esophageal varix	OMIM:617341
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Ascites, Nausea and vomiting, Cere...	ORPHA:99828
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Gastroesophageal reflux, Male infertility, Hypogonadism, Intestinal ...	ORPHA:85450
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Acute hepatic failure, Dysuria...	ORPHA:36426
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Hyperechoge...	OMIM:614576
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology	ORPHA:98848
Cutaneous Mastocytoma	Hypotension, Vomiting, Diarrhea, Telangiectasia macularis eruptiva perstans, Angioedema, Nausea, ...	ORPHA:79455
Bartter Syndrome, Type 3	Hypotension, Hyperchloriduria, Nephrocalcinosis, Hypocalciuria, Increased urinary potassium, Impa...	OMIM:607364
Poems Syndrome	Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Splenomega...	ORPHA:2905
Erdheim-Chester Disease	Polydipsia, Congestive heart failure, Nausea and vomiting, Renal insufficiency, Pleural effusion,...	ORPHA:35687
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c...	ORPHA:431361
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly...	OMIM:613610
Caroli Disease	Vomiting, Ascites, Portal hypertension, Splenomegaly, Nausea, Abdominal rigidity, Cholangiocarcin...	ORPHA:53035
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Left v...	OMIM:619698
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M...	OMIM:616564
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis	ORPHA:94063
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Decreased liver function, Hyperglycinemia, Agitation, Metabolic acidosis, Irritabi...	OMIM:620423
Bone Marrow Failure Syndrome 5	Testicular atrophy, Oral leukoplakia, Hypogonadism	OMIM:618165
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Dysphagia, Skeletal muscle atrophy, Emotional lability, Amyotrophic lateral sclerosis	OMIM:612069
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ...	OMIM:608747
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ...	ORPHA:758
Fanconi Anemia, Complementation Group B	Renal agenesis, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Duodenal atresia	OMIM:300514
Rh Deficiency Syndrome	Hepatosplenomegaly, Tachypnea, Jaundice, Tachycardia, Hypoxemia	ORPHA:71275
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Pedal edema, Systolic heart murmur, Right ventricular failure, ...	ORPHA:99103
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia	OMIM:603471
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Apnea, Renal co...	ORPHA:397715
Glycerol Kinase Deficiency	Muscular dystrophy, Vomiting, Increased circulating lactate concentration, Ketoacidosis, Increase...	OMIM:307030
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Elevated circu...	OMIM:300942
Mast Cell Sarcoma	Mastocytosis, Weight loss, Splenomegaly	ORPHA:66661
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Percussion myotonia, Gastroesophageal reflux, Hypoglycemia	OMIM:620275
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Mania, Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neopla...	ORPHA:189427
Gaucher Disease Type 3	Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Thrombocytopenia, Anemia, Incr...	ORPHA:77261
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Lactic acidosis, Low plasma citrulline, Renal steatosis, Hepatomegaly	OMIM:261680
Combined Oxidative Phosphorylation Deficiency 55	Increased circulating lactate concentration, Proximal tubulopathy, Type 2 muscle fiber predominan...	OMIM:619743
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Decreased liver...	OMIM:613658
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen...	OMIM:245600
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, High palate, Lactic acidosis, Ketonuria	OMIM:614520
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Ascites, Portal hypertension, Splenomegaly, Hepatomegaly, Esophageal varix, Hepatocell...	OMIM:619463
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Succinic Acidemia	Lactic acidosis	OMIM:600335
Lesch-Nyhan Syndrome	Self-injurious behavior, Nephrocalcinosis, Vomiting, Hyperuricemia, Nephrolithiasis, Hyperuricosu...	OMIM:300322
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Hepatic failure, Vomiting, Ascites, Hyperbilirubinemi...	OMIM:251880
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Hyperchloremia, Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis	OMIM:614496
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Congestive heart failure	OMIM:176670
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Increased susceptibility to fra...	ORPHA:2909
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Vomiting, Gastroesophageal reflux, Failure to thrive, Abnormal heart morpholo...	ORPHA:96182
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Pulmonary arterial hypertension, Cyanosis, Tachypnea	OMIM:265120
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Hyperphosphatemia, Nephrolithiasis, Polyuria, Achilles tendon calcification, Hypercal...	OMIM:617994
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Na...	ORPHA:79403
Polyglucosan Body Neuropathy, Adult Form	Urinary incontinence, Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hyp...	OMIM:263570
Legius Syndrome	Male urethral meatus stenosis, Short attention span, Nephroblastoma, Nephrolithiasis, Paroxysmal ...	ORPHA:137605
Idiopathic Camptocormia	Abnormal synaptic transmission at the neuromuscular junction, Myotonia, Fatigable weakness of ske...	ORPHA:1320
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Gastroesophageal reflux, Camptodactyly of finger, Acute hepatic fai...	ORPHA:2092
Bronchial Neuroendocrine Tumor	Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted diarrhea, ...	ORPHA:97287
Alexander Disease	Self-injurious behavior, Hypotension, Depression, Chorea, Nausea and vomiting, Emotional lability...	ORPHA:58
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Increased circulating lactate concentration, Dilated cardiomyopathy, Elev...	ORPHA:66634
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, Restrictive cardiomyopathy, Increased circulating ferritin concentratio...	OMIM:619313
Congenital Tracheal Stenosis	Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormality o...	ORPHA:141127
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Hypokalemic Tubulopathy And Deafness	Ataxia, Renal salt wasting, Acidosis, Increased circulating renin level	OMIM:619406
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating lactate concentration, Generalized limb muscle atrophy, Increased circulati...	OMIM:600462
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis, Choreoathetosis, Feeding difficulties, Ataxia	OMIM:245348
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Cardiomyopathy, Fasting hyperinsulinemia, Insulin...	ORPHA:769
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E...	OMIM:610755
X-Linked Hypophosphatemia	Rickets, Limitation of joint mobility, Generalized osteosclerosis, Tooth abscess, Arthritis, Enth...	ORPHA:89936
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea, Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Vomiting, Abnormality of the urinary system, Ureterocele, Abnormality of the ...	ORPHA:158684
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Barth Syndrome	Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,...	OMIM:302060
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Mitral valve prolapse, Angina pectoris, Cerebral hemorrhage, Retinal...	OMIM:177850
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Dysdiadochok...	OMIM:606721
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Hepatic failure, Chorea, Hyperammonemia, Low plasma citrulline	OMIM:618567
Fish-Eye Disease	Angina pectoris, Splenomegaly	ORPHA:79292
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density	OMIM:620558
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Gastroesophageal reflux, Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome,...	ORPHA:542306
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Somatic sensory dysfunction, Feeding difficulties, Achalasia, Orthostatic hypotension, Ataxia, Dy...	OMIM:615510
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Emotional lability, Social and occupational deterioration, Motor stereotyp...	ORPHA:353281
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Episodic tachypnea, Protruding tongue, Renal cyst, Central apnea, ...	OMIM:213300
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Oligohydramnios, Nephroblastoma, Renal cyst, Feeding difficulties i...	OMIM:257300
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Double Outlet Left Ventricle	Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventr...	ORPHA:3427
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia...	ORPHA:90041
Refractory Celiac Disease	Hypoalbuminemia, Protein-losing enteropathy, Malnutrition, Jejunitis, Hypomagnesemia, Villous atr...	ORPHA:398063
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m...	ORPHA:2658
Gracile Syndrome	Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h...	ORPHA:53693
Nipah Virus Disease	Hypotension, Nausea and vomiting, Anorexia	ORPHA:99825
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Abnormal circulating selenium concentration, IgA deposition in the glomer...	ORPHA:79408
Stuve-Wiedemann Syndrome 1	Impaired pain sensation, Pulmonary arterial hypertension, Dysphagia, Myotonia	OMIM:601559
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia	OMIM:613239
3-Hydroxyisobutyric Aciduria	Lactic acidosis	ORPHA:939
Trichothiodystrophy	Osteopenia, Increased mean corpuscular hemoglobin concentration, Multiple joint contractures, Neu...	ORPHA:33364
Dent Disease	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	ORPHA:1652
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins...	ORPHA:456312
Alstrom Syndrome	Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Decreased ...	OMIM:203800
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Bicuspid aortic valve, Chordee, Urinary inco...	ORPHA:261537
Hyperglycinemia, Lactic Acidosis, And Seizures	Increased circulating lactate concentration, Hypertrophic cardiomyopathy, Lactic acidosis, Joint ...	OMIM:614462
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Pulmonary ...	ORPHA:447
Glycogen Storage Disease Iii	Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:232400
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Lactic acidosis, Elevated circulating creatine kinase concentration,...	OMIM:618775
Biotinidase Deficiency	Organic aciduria, Apnea, Splenomegaly, Tachypnea, Hepatomegaly	OMIM:253260
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de...	ORPHA:90652
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Restrictive cardiomyopathy, Generalized myoclonic seizure, Generalized non-mo...	ORPHA:369837
Prader-Willi Syndrome	Precocious puberty, Seizure, Decreased response to growth hormone stimulation test, Hyperinsuline...	OMIM:176270
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Late-Onset Isolated Acth Deficiency	Hypotension, Diarrhea, Celiac disease, Nausea and vomiting, Hyperuricemia, Hyponatremia, Constipa...	ORPHA:199299
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Gastrointestina...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Gastrointestina...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Gastrointestina...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Hyperinsulinemia, Type II diabetes mellitus, Gastrointestina...	ORPHA:881
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Oral leukoplakia	OMIM:613987
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperinsulinemia, T...	OMIM:151660
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria	ORPHA:95626
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Seizure	ORPHA:364
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Spleno...	ORPHA:565612
Childhood Absence Epilepsy	Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (...	ORPHA:64280
Schwartz-Jampel Syndrome, Type 1	Percussion myotonia	OMIM:255800
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hypotension, Malnutrition, Hepatomegaly, Abdomin...	ORPHA:79456
Diaphanospondylodysostosis	Polymicrogyria, Respiratory distress, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney, ...	OMIM:608022
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Tachypnea, Pulmonary arterial hypertension, Hypoxemia	OMIM:610913
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Hyperactivity, Ataxia, Unusual gastrointestinal infection	ORPHA:760
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Muscular dystrophy, Ascites, Stomach cancer, ...	ORPHA:1052
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Gastroesophageal reflux, Pseudobulbar paralysis, Tricuspid regurgitation, Ab...	ORPHA:466791
Gaucher Disease	Splenic infarction, Osteopenia, Pathologic fracture, Osteomyelitis, Joint stiffness, Recurrent fr...	ORPHA:355
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Ventricular septal defect, Bicuspid...	ORPHA:261552
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Monosomy 22Q13.3	Gastroesophageal reflux, Impaired pain sensation, Lymphedema, Bruxism, Recurrent pyelonephritis, ...	ORPHA:48652
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra...	ORPHA:439232
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Cervical spinal co...	ORPHA:35689
Short Syndrome	Insulin resistance, Weight loss, Diabetes mellitus	ORPHA:3163
Plasminogen Deficiency, Type I	Nephritis, Decreased level of plasminogen, Duodenal ulcer, Nephrolithiasis	OMIM:217090
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Irritability, Cardiomegaly,...	OMIM:618278
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Tachypnea, Pulmonary arterial hypertension, Right ventricular hypertrophy	ORPHA:217563
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased circulating lactate concentration, Elevated circulating creatinine concentration, Trans...	OMIM:274150
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Seizure, Hypertriglyceridemia	ORPHA:540
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Impaired pain sensation, Protruding tongue,...	ORPHA:870
Raine Syndrome	Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation	OMIM:259775
Wolfram Syndrome 1	Hypothyroidism, Dysphagia, Testicular atrophy, Diabetes insipidus, Diabetes mellitus	OMIM:222300
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Aggressive behavior, Attention deficit hyperactivity disorder, F...	OMIM:618846
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Bifid scrotum, Supernumerary nipple, Cryptorchidism, Submuc...	OMIM:235730
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Pathologic fracture, Synostosis...	ORPHA:221016
Stromme Syndrome	Bilateral renal hypoplasia, Intestinal malrotation, Myopathy, Jejunal atresia, Hydronephrosis, Du...	OMIM:243605
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Dysphagia, Degene...	OMIM:105400
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Machado-Joseph Disease Type 3	Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotrophy, Abnorm...	ORPHA:276244
Retinitis Pigmentosa 89	Hepatosplenomegaly, Esophageal varix	OMIM:618955
Aortic Aneurysm, Familial Thoracic 10	Dural ectasia, Mitral regurgitation, Bicuspid aortic valve, Left ventricular hypertrophy, High pa...	OMIM:617168
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Polyhydramnios, Pelvic kidney, Duodenal at...	OMIM:603467
Orofaciodigital Syndrome Type 6	Abnormal heart morphology, Episodic tachypnea, Hamartoma of tongue, Apnea, Abnormality of neurona...	ORPHA:2754
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Finger symphalangism, Anemia, N...	ORPHA:221008
Aspergillosis	Abnormal esophagus morphology, Intracranial hemorrhage, Pleural effusion, Abnormality of the kidney	ORPHA:1163
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Hypoplasia of the mus...	OMIM:253310
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Intractable diarrhea, Vomiting, Diarrhea, Anoperineal fistula, Bowel irritabilit...	OMIM:619381
Bardet-Biedl Syndrome	Irregular menstruation, Inflammation of the large intestine, Aplasia/Hypoplasia of the vagina, Hy...	ORPHA:110
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ...	OMIM:265380
Amyotrophic Lateral Sclerosis	Progressive distal muscular atrophy, Tongue atrophy, Depression, Skeletal muscle atrophy, Upper l...	ORPHA:803
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Hypertension	OMIM:603278
Schwartz-Jampel Syndrome	Myotonia, Decreased body weight, Cachexia, Arrhythmia, Pulmonary arterial hypertension	ORPHA:800
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Tric...	OMIM:619127
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Ileal atresia, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorc...	OMIM:618820
Cerebrotendinous Xanthomatosis	Diarrhea, Pseudobulbar paralysis, Angina pectoris, Ataxia, Myocardial infarction	OMIM:213700
Hurler Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Angina...	ORPHA:93473
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Cyanosis, Tachypnea, Hypoxemia	OMIM:610921
Frontotemporal Dementia	Inappropriate laughter, Amyotrophic lateral sclerosis, Irritability	OMIM:600274
Scrub Typhus	Hypotension, Nausea and vomiting, Renal insufficiency, Splenomegaly, Myocarditis, Abdominal pain	ORPHA:83317
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Rett Syndrome	Gastroesophageal reflux, Skeletal muscle atrophy, Abnormal T-wave, Apnea, Intermittent hyperventi...	OMIM:312750
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hyperthyroidism, Nonautoimmune	Tachycardia, Hyperactivity, Increased circulating thyroglobulin concentration	OMIM:609152
Joubert Syndrome 2	Nephronophthisis, Episodic tachypnea, Renal insufficiency, Renal cyst, Central apnea, High palate	OMIM:608091
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Decreased testicular size, Cleft soft palate, Hypoplasia of the ovary, Ab...	OMIM:619321
Knobloch Syndrome 2	Pyloric stenosis	OMIM:618458
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Splenomegaly, Ch...	OMIM:620367
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Hepatic failure, Fetal ascites, Cardiomyopathy, Pleural effusion, H...	ORPHA:292
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Lactic acidosis, Splenomegaly, Ataxia	OMIM:616084
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Protein-losing enteropathy, Joint contracture of the hand, Periorbital edema, In...	OMIM:235510
Hellp Syndrome	Generalized edema, Hypotension, Vomiting, Acute kidney injury, Pleural effusion, Proteinuria, Nau...	ORPHA:244242
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Furrowed tongue, Vesicoureteral reflux, Renal cyst, Attention deficit hy...	OMIM:616975
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Intestinal obstruction, Hy...	ORPHA:900
Desmosterolosis	Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita	OMIM:602398
Amyotrophic Lateral Sclerosis 4, Juvenile	Distal amyotrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy...	OMIM:602433
H Syndrome	Hypogonadism, Abnormal cardiovascular system physiology, Facial telangiectasia, Delayed puberty, ...	ORPHA:168569
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased circulating lactate concentration, Lactic acidosis, Elevated hepatic iro...	OMIM:614946
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Japanese Encephalitis	Skeletal muscle atrophy, Respiratory distress, Elbow flexion contracture, Distal lower limb muscl...	ORPHA:79139
Mosaic Trisomy 9	Camptodactyly of finger, Abnormal heart valve morphology, Intestinal malrotation, Horseshoe kidne...	ORPHA:99776
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphopeni...	OMIM:618986
Microform Holoprosencephaly	Renal agenesis, Duodenal atresia, Hypoplasia of penis, EMG: myopathic abnormalities, Cleft palate	ORPHA:280200
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617072
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Branchiooculofacial Syndrome	Gastroesophageal reflux, Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Hypospadias...	OMIM:113620
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system...	ORPHA:468631
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Hyperbilirubinemia, Dark urine, Metabolic acidosis, Abdominal dis...	OMIM:619534
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Lactic acidosis, Metabolic acidosis	OMIM:610773
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Dysphagia, Amyotrophic lateral sclerosis	OMIM:617892
Duodenal Atresia	Duodenal atresia	OMIM:223400
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia, Telangiectasia, Angina pectoris, Cachexia, Intracranial hemorrhage	ORPHA:109
Fryns Syndrome	Joint contracture of the hand, Meckel diverticulum, Renal agenesis, Chylothorax, Intestinal malro...	OMIM:229850
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Lymphedema, Ascites, Polyhydramnios, Hypocalcemia, S...	OMIM:235255
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer, Ataxia	ORPHA:3350
Absence Of The Pulmonary Artery	Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce...	ORPHA:980
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Dysphagia, Amyotrophic lateral sclerosis	OMIM:617839
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Lactic acidosis	OMIM:615438
Duodenal Atresia	Polyhydramnios, Duodenal atresia	ORPHA:1203
Mitochondrial Complex I Deficiency, Nuclear Type 32	Increased circulating lactate concentration, Vomiting, Skeletal muscle atrophy, Metabolic acidosi...	OMIM:618252
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Edema, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Ade...	ORPHA:329971
Carnitine Palmitoyl Transferase 1A Deficiency	Seizure, Hypertrophic cardiomyopathy, Transient hyperlipidemia, Arrhythmia, Sudden cardiac death	ORPHA:156
Chronic Graft Versus Host Disease	Diarrhea, Xerostomia, Gastroesophageal reflux, Urinary bladder inflammation, Ascites, Abnormal es...	ORPHA:99921
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Bifid uvula, Self-injurious behavior, Fixated interests, Emotional lability, ...	OMIM:620330
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Polyhydramnios, Protein-losing enteropathy, Feeding difficulties, Lymphedema	OMIM:618154
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,...	ORPHA:740
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Osteopetrosis With Renal Tubular Acidosis	Distal renal tubular acidosis, Oligohydramnios, Renal tubular acidosis, Hypocalcemia, Elevated ci...	ORPHA:2785
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Leptospirosis	Hypotension, Diarrhea, Subconjunctival hemorrhage, Acute kidney injury, Pulmonary hemorrhage, Nau...	ORPHA:509
Fontaine Progeroid Syndrome	High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Abnormal heart morphology, ...	OMIM:612289
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Increased bone mineral density	ORPHA:50945
Hennekam-Beemer Syndrome	Mastocytosis, Hypotension, Vomiting, Failure to thrive, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Polymicrogyria, Seizure, Decrea...	ORPHA:157
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, High palate, Motor s...	OMIM:616393
Leopard Syndrome 1	Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,...	OMIM:151100
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Dysphagia, Amyotrophic lateral sclerosis	OMIM:614808
Macrophage Activation Syndrome	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer...	ORPHA:158061
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Arrhythmia, Paroxysmal supraventricular tachycardia, High palate	OMIM:617877
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Yunis-Varon Syndrome	Cardiomyopathy, Pachygyria, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect,...	OMIM:216340
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Sarcoidosis	Arrhythmia, Hepatomegaly, Tubulointerstitial nephritis, Heart block, Enlargement of parotid gland...	ORPHA:797
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Dilated cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Agitation, Splenomeg...	OMIM:615688
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt	OMIM:620510
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Pulmonary carcinoid tumor, Congestive heart failure, Mitral regurgitation,...	ORPHA:363618
Idiopathic Achalasia	Gastroesophageal reflux, Dysphagia, Weight loss	ORPHA:930
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Ectopic ossification, Reduced bone mineral density, Hyperostosis ...	ORPHA:79443
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Chronic Visceral Acid Sphingomyelinase Deficiency	Depression, Generalized non-motor (absence) seizure, Abnormal circulating lipid concentration, De...	ORPHA:77293
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Vomiting, Diarrhea, Skeletal muscle atrophy, Increased circulating...	OMIM:222700
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Ectopic ossification	ORPHA:79444
Amyotrophic Lateral Sclerosis 16, Juvenile	Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness	OMIM:614373
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Hypoplasminogenemia	Abnormality of the ovary, Duodenal ulcer, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Decreased liver function, Lactic acidosis, Nonimmune hydrops fetalis, Elevated ci...	OMIM:618839
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Hypertrophic cardiomyopathy, Lactic acidosis, Nonimmune hydrops fetalis...	OMIM:618835
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Malabsorption, Duodenal ulcer, Chronic diarrhea	ORPHA:3217
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Ascites, Hepatosplenomegaly, Polyhydramnios, Hypocal...	ORPHA:1655
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Werner Syndrome	Hypogonadism, Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia	OMIM:277700
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia	OMIM:619608
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai...	ORPHA:73224
Combined Oxidative Phosphorylation Deficiency 12	Increased circulating lactate concentration, Feeding difficulties, Lactic acidosis, Ragged-red mu...	OMIM:614924
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126840
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Handgrip myotonia, Ataxia	ORPHA:438216
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos...	ORPHA:220460
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Dysphagia, Amyotrophic lateral sclerosis	OMIM:613435
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat...	OMIM:207750
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Emotional lability, Feeding difficulties in infancy, Abnormality of the ki...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Emotional lability, Feeding difficulties in infancy, Abnormality of the ki...	ORPHA:353277
Cardiac-Urogenital Syndrome	Intestinal malrotation, Congenital diaphragmatic hernia, Penoscrotal hypospadias, Micropenis, Tac...	OMIM:618280
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Polyhydramnios, Camptodactyly, Pelvic kidney, Duodenal atresia, Cl...	OMIM:247200
Feingold Syndrome	Esophageal atresia, Duodenal atresia	ORPHA:1305
Scedosporiosis	Abnormal renal morphology, Abnormal jejunum morphology, Pleural empyema, Pericarditis	ORPHA:449280
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic failure, Abnormal circulating lipid concentration, Ascites, Portal hyper...	ORPHA:186
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Griscelli Syndrome Type 2	Iris hypopigmentation, Hyperlipidemia, Seizure	ORPHA:79477
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Cardiomyopathy, Hypertriglyceridemia	ORPHA:98907
Chromosome 5Q12 Deletion Syndrome	Macroglossia, Hypotension, Increased nuchal translucency	OMIM:615668
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Decreased urinary urate, Increased urinary taurine, Increased urinary hypoxanthine ...	OMIM:252160
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Lactic acidosis, Nonimmune hydrops fetalis, Elevated circulating creatine kinase co...	OMIM:618838
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Narcolepsy 3	Narcolepsy	OMIM:609039
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	EMG: myotonic runs, Cardiomyopathy	ORPHA:206549
Juvenile Polyposis Syndrome	Diarrhea, Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal pol...	ORPHA:2929
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Aggressive behavior, Supraventricular tachycardia with an accessory conn...	ORPHA:404443
Renal Tubular Dysgenesis	Hypotension, Abnormality of the urinary system, Renotubular dysgenesis, Anuria, Oligohydramnios	OMIM:267430
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis	OMIM:615426
Cntnap2-Related Developmental And Epileptic Encephalopathy	Low frustration tolerance, Intermittent hyperventilation, Abnormality of neuronal migration, Hepa...	ORPHA:163681
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Male infertility, Reduced sperm motility	OMIM:613807
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126850
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Precocious puberty, Seizure, Hyperlipidemia, Mitral regurgitation, Arrhythm...	ORPHA:254346
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,...	ORPHA:99094
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic failure, Vomiting, Lactic acidosis, Hyperammonemia, Hepatomegaly	OMIM:615486
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Increased circulating lactate concentration, 3-Methylglutaconic acidur...	OMIM:617248
Kindler Syndrome	Anal stenosis, Oral leukoplakia, Phimosis, Telangiectasia of the skin, Dysphagia, Esophageal sten...	OMIM:173650
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli...	OMIM:615947
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Decreased response to growth hormone stimulation te...	ORPHA:470
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Decreased serum leptin, Hyperinsulinemia, Hypertriglyceridemia, Diabetes mellitus...	OMIM:608594
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Osteopetrosis, Anemia, Craniosynostosis, Reduced bone mineral density, Recurrent fr...	ORPHA:667
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, High palate, Anorexia, Hepato...	ORPHA:394
Schimke Immuno-Osseous Dysplasia	Seizure, Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia,...	ORPHA:1830
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Familial Multiple Lipomatosis	Insulin resistance, Abnormal tricuspid valve morphology	ORPHA:199276
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Edema, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Apolipoprotein A-I Deficiency	Angina pectoris	ORPHA:425
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Limb muscle weakness, Amyotrophic lateral sclerosis	OMIM:619141
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hypertrophic cardiomyopathy, H...	ORPHA:508
Carney Complex, Type 1	Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ...	OMIM:160980
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia	ORPHA:3004
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Dysphagia, Amyotrophic lateral sclerosis	OMIM:300857
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Nephrolithiasis, Premature ventricular contraction, Hypertension, Feeding diff...	OMIM:620504
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus,...	OMIM:269700
Neutral Lipid Storage Disease With Myopathy	Elevated circulating creatine kinase concentration, Diabetes mellitus, Cardiomyopathy, Hypertrigl...	OMIM:610717
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Macular edema, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating crea...	ORPHA:91500
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:205200
Scalp-Ear-Nipple Syndrome	Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Pyelonephriti...	OMIM:181270
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hypertrophi...	ORPHA:309854
Feingold Syndrome 1	Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointestinal atresia, High pa...	OMIM:164280
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea	OMIM:300770
Intellectual Developmental Disorder, Autosomal Dominant 54	Gastroesophageal reflux, Urinary retention, Apnea, Irritability, Gastrointestinal dysmotility, Hy...	OMIM:617799
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Narcolepsy 1	Narcolepsy	OMIM:161400
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic...	OMIM:309801
Orofaciodigital Syndrome Type 2	Velopharyngeal insufficiency, Atrioventricular canal defect, Hamartoma of tongue, Apnea, Submucou...	ORPHA:2751
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Proximal amyotrophy, Amyotrophic lateral sclerosis	OMIM:608030
Cog8-Cdg	Protein-losing enteropathy, Skeletal muscle atrophy, Ataxia	ORPHA:95428
Neutral Lipid Storage Myopathy	Cardiomyopathy, Congestive heart failure, Abnormal circulating creatine kinase concentration, Pin...	ORPHA:98908
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Duodenal atresia	OMIM:614114
Juvenile Polyposis Of Infancy	High, narrow palate, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Diarrhea, Pr...	ORPHA:79076
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Hyperkalemia	OMIM:141000
Atypical Werner Syndrome	Aortic valve stenosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mell...	ORPHA:79474
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Vomiting, Long penis, Hypernatriuria, Dehydration, Shock, Hyperkalemic metabolic aci...	ORPHA:90794
Alg9-Cdg	Bifid uvula, Gastroesophageal reflux, Villous atrophy, Hypoplastic nipples, Hypoplasia of the ova...	ORPHA:79328
Inhalational Anthrax	Confusion, Hypotension, Vomiting, Internal hemorrhage	ORPHA:247257
Microphthalmia, Syndromic 1	High, narrow palate, Cryptorchidism, Aganglionic megacolon, Anal atresia, High palate, Hypospadia...	OMIM:309800
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Distal upper lim...	ORPHA:600
Narcolepsy 7	Narcolepsy	OMIM:614250
Pitt-Hopkins-Like Syndrome 2	Hyperventilation, Gastroesophageal reflux, Protruding tongue, Pulmonic stenosis	OMIM:614325
Joubert Syndrome 5	Nephronophthisis, Episodic tachypnea, Renal cortical cysts, Reduced renal corticomedullary differ...	OMIM:610188
Somatomammotropinoma	Impotence, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin c...	ORPHA:314769
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia, High palate, Polyhydramnios	OMIM:620475
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Bifid uvula, Dural ectasia, Cystocele, Mitral regu...	OMIM:613795
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Horseshoe kidney, Posteriorly placed anus, Polyhydramnios, Mitral stenosis, Cardi...	OMIM:306955
Sclerosteosis 1	Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero...	OMIM:269500
Cholestasis, Progressive Familial Intrahepatic, 8	Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Hepatomegaly,...	OMIM:619662
Biotinidase Deficiency	Myelopathy, Organic aciduria, Respiratory distress, Apnea, Limb muscle weakness, Hyperventilation	ORPHA:79241
Pitt-Hopkins Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Aganglionic megacolon, Micropenis, Hypervent...	ORPHA:2896
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Bifid uvula, Dural ectasia, Camptodactyly of finger, Abnormal heart morphol...	ORPHA:284984
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Dysphagia	ORPHA:1332
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Facial diplegia, Syringomyelia, Left ventricular hy...	ORPHA:31150
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Ureteral stenosis, Atrial reentry tachycardia, Intestinal malrotation, Ureteral...	OMIM:270100
Caroli Syndrome	Hepatic failure, Hyperbilirubinemia, Portal hypertension, Hepatomegaly, Abdominal rigidity, Hemat...	ORPHA:480520
Neurodegeneration With Brain Iron Accumulation 4	Depression, Distal amyotrophy, Emotional lability, Abnormal lower motor neuron morphology, Scapul...	OMIM:614298
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Esophageal varix, Retinal telangiectasia,...	ORPHA:774
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Seizure, Congestive heart failure...	OMIM:256040
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy, Perianal dermatitis, Recurrent gastroenteritis, Anal fissure	ORPHA:294023
Cystic Fibrosis	Gastroesophageal reflux, Decreased body mass index, Failure to thrive, Absent vas deferens, Exocr...	ORPHA:586
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233710
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c...	ORPHA:249
Dyskeratosis Congenita, Autosomal Recessive 5	Colitis, Esophageal stenosis	OMIM:615190
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension, Hyperchloremic metabolic acidosis	OMIM:614495
Fanconi Anemia, Complementation Group A	Cryptorchidism, Small for gestational age, Hypergonadotropic hypogonadism, Male infertility	OMIM:227650
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233690
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Increased circulating ferritin concentration, Seizure, Hypertriglyceridemia	ORPHA:158048
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Diastasis recti, Mitral re...	OMIM:601776
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis, Feeding difficulties	OMIM:618232
Townes-Brocks Syndrome 1	Anal stenosis, Gastroesophageal reflux, Multicystic kidney dysplasia, Renal hypoplasia, Renal dys...	OMIM:107480
Amyotrophic Lateral Sclerosis 8	Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy, D...	OMIM:608627
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Hyperlipoproteinemia, Type I	Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Recurrent aphtho...	ORPHA:2968
Classical-Like Ehlers-Danlos Syndrome Type 2	Diabetes mellitus, Hypertriglyceridemia	ORPHA:536532
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Ataxia	ORPHA:255138
Primary Ciliary Dyskinesia	Intestinal malrotation, Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Cystic Fibrosis	Failure to thrive, Meconium ileus, Exocrine pancreatic insufficiency, Ileus, Pancreatitis, Steato...	OMIM:219700
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Ascites, Portal hypertension, Pulmonary arterial hypertension, Esoph...	ORPHA:974
Combined Deficiency Of Factor V And Factor Viii	Epistaxis, Gastrointestinal hemorrhage, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J...	ORPHA:35909
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Intestinal malrotation, Gait ataxia, Congenital diaphragmatic hern...	OMIM:135900
Marfan Syndrome	Aortic regurgitation, High, narrow palate, Skeletal muscle atrophy, Congestive heart failure, Mit...	ORPHA:558
Granulomatous Disease, Chronic, X-Linked	Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:306400
Charge Syndrome	Anal stenosis, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Feeding difficulties, Polyhydr...	OMIM:214800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:1414
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Adams-Oliver Syndrome 5	Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypertension, Right ventricular hypertrophy, ...	OMIM:616028
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Acromegaly	Impotence, Long penis, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, W...	ORPHA:963
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Hypotension	ORPHA:91354
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Hepatic sinusoidal dilatation, Polymicrogyria, Tricuspid regurgitation, Splenic cy...	OMIM:620371
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Gastric ulcer, Hypertension, Myocardial infarction	OMIM:208060
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration	OMIM:614266
Schinzel-Giedion Syndrome	Hypospadias, Central hypothyroidism, Annular pancreas, Anteriorly placed anus, Failure to thrive ...	ORPHA:798
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, A...	ORPHA:300605
Iniencephaly	Renal agenesis, Congenital diaphragmatic hernia, Polyhydramnios, Anal atresia, Arthrogryposis mul...	ORPHA:63259
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Gastroesophageal reflux, Progressive flexion contractures, Atrial septal defect, Central apnea, H...	ORPHA:522077
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Generalized-onset seizure, Hypertriglyceridemia	OMIM:619418
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Hyperventilation, Apnea	OMIM:617903
Menke-Hennekam Syndrome 2	Duodenal ulcer, Chronic constipation	OMIM:618333
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Seizure, Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitr...	OMIM:235400
Benign Schwannoma	Abnormal esophagus morphology, Facial palsy, Intestinal polyposis, Abnormal parotid gland morphology	ORPHA:252164
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance	ORPHA:90153
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Adult-Onset Cervical Dystonia, Dyt23 Type	Hyperventilation, Supraventricular arrhythmia, Torticollis, Neck muscle hypertrophy	ORPHA:420492
Pitt-Hopkins-Like Syndrome 1	Hyperventilation, Reduced social reciprocity	OMIM:610042
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Trichotillomania	Compulsive behaviors, Hair-pulling	OMIM:613229
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder, Dysphagia, Amyotrophic lateral sclerosis	OMIM:615911
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Increased nuchal translu...	OMIM:620066
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance	ORPHA:90154
Dyskeratosis Congenita	Hepatic failure, Oral leukoplakia, Malabsorption, Splenomegaly, Displacement of the urethral meat...	ORPHA:1775
Goodpasture Syndrome	Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency, Cyanosis, Cylindruria, Protei...	OMIM:233450
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre...	ORPHA:86816
Ane Syndrome	Hypogonadotropic hypogonadism, Motor neuron atrophy, Multiple joint contractures, Generalized amy...	ORPHA:157954
Hyperoxaluria, Primary, Type Iii	Calcium oxalate nephrolithiasis, Hyperoxaluria	OMIM:613616
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Renal cyst, Hyperoxaluria	OMIM:601539
Pde4D Haploinsufficiency Syndrome	Hypotension, Hypospadias	ORPHA:439822
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Sclerosis of skull base, Thickened cortex of long bones, Hypsarr...	OMIM:269150
Cornelia De Lange Syndrome 6	Compulsive behaviors, Gastroesophageal reflux, Hair-pulling	OMIM:620568
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Skeletal muscle atrophy, Villous atrophy, Splenomegaly, Hep...	OMIM:614162
Encephalitis Lethargica	Urinary incontinence, Hyperventilation, Upper limb muscle weakness, Bradycardia	ORPHA:83600
Dyskeratosis Congenita, Autosomal Dominant 6	Oral leukoplakia, Esophageal stenosis	OMIM:616553
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Polymicrogyria, Decreased response to growth hormo...	ORPHA:3455
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Decreased serum ...	OMIM:241080
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Heart block	ORPHA:1964
Pachydermoperiostosis	Peptic ulcer, Gastrointestinal hemorrhage, Hyperhidrosis, Elevated circulating growth hormone con...	ORPHA:2796
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Urinary incontinence, Hyperventilation, Depression	ORPHA:98784
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Duodenal atresia, Clef...	OMIM:301043
Acute Radiation Syndrome	Telangiectasia, Hypotension, Vomiting, Diarrhea	ORPHA:454831
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Cleft soft palate, Chronic constipation, Hip contracture, High palate, Dyspha...	OMIM:619503
Pmm2-Cdg	Insulin resistance, Vomiting, Failure to thrive, Hypertrophic cardiomyopathy, Hyperinsulinemia, A...	ORPHA:79318
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy	OMIM:604121
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cleft palate, Abnormality of the diencephalon	ORPHA:2165
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Joubert Syndrome 8	Hepatomegaly, Hyperventilation, Prolonged neonatal jaundice	OMIM:612291
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus	OMIM:608612
Viss Syndrome	Cleft soft palate, Chronic constipation, Contracture of the proximal interphalangeal joint of the...	OMIM:619472
Developmental And Epileptic Encephalopathy 2	Hyperventilation, Gastroesophageal reflux	OMIM:300672
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia, Papillary thyroid carcinoma	OMIM:118450
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Intermittent hyperventilation, High palate, Simplified gyral pattern, Pachygyria	OMIM:300749
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud...	OMIM:224700
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, High palate, Hypospadias, Cl...	ORPHA:3063
Spondyloocular Syndrome	Duodenal ulcer, Lymphedema	OMIM:605822
Congenital Isolated Acth Deficiency	Hyponatremia, Hypotension	ORPHA:199296
Pitt-Hopkins Syndrome	Intermittent hyperventilation, Gastroesophageal reflux, Micropenis	OMIM:610954
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy	ORPHA:314404
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Increased serum testosterone level, Hypertriglyceridemia	OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 57	Hyperventilation, High palate, Contracture of the proximal interphalangeal joint of the 4th finger	OMIM:618050
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Whim Syndrome	Abnormal small intestine morphology, Limb ataxia, Parotitis	ORPHA:51636
Homozygous Familial Hypercholesterolemia	Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina pectoris, Myocardial st...	ORPHA:391665
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperlipidemia, Hypercholesterolemia, Calc...	OMIM:248370
Niemann-Pick Disease Type C	Narcolepsy, Hepatosplenomegaly, Bone-marrow foam cells, Splenomegaly	ORPHA:646
Oculocerebral Hypopigmentation Syndrome, Preus Type	High palate, Abnormality of the diencephalon	ORPHA:2720
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Hamartoma of tongue, Micropenis, Anal atresia, Esophageal diverticulum, Cleft palate	OMIM:617925
Alström Syndrome	Insulin resistance, Dilated cardiomyopathy, Gastroesophageal reflux, Somatic sensory dysfunction,...	ORPHA:64
Noonan Syndrome 1	High, narrow palate, Male infertility, Failure to thrive in infancy, Hypogonadism, Cryptorchidism...	OMIM:163950
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Pulmonary embolism, Hypoalbuminemia	ORPHA:567546
Norrie Disease	Failure to thrive, Uterine rupture, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti...	ORPHA:649
Pallister-Killian Syndrome	Aortic valve stenosis, Bifid uvula, Anal stenosis, Camptodactyly of 2nd-5th fingers, Anteriorly p...	OMIM:601803
Joubert Syndrome 17	Hyperventilation	OMIM:614615
Fraser Syndrome 1	Renal hypoplasia, Abnormal small intestine morphology, Renal hypoplasia/aplasia, Abnormality of t...	OMIM:219000
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Small hypothenar eminence, Tricuspid regurgitation, Left ...	OMIM:142900
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Limb muscle weakness, Amyotrophic lateral sclerosis	OMIM:619133
Congenital Total Pulmonary Venous Return Anomaly	Right ventricular failure, Tricuspid regurgitation, Mitral regurgitation, Cardiomegaly, Pulmonary...	ORPHA:99125
Parenteral Nutrition-Associated Cholestasis	Abnormal circulating fatty-acid concentration, Hyperlipidemia, Portal hypertension, Conjugated hy...	ORPHA:567983
African Trypanosomiasis	Narcolepsy, Hepatosplenomegaly, Splenomegaly	ORPHA:3385
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hypotension	ORPHA:293978
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension, Constipation, Median cleft palate	ORPHA:95494

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nos1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nos1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Cardiac muscle-restricted partial loss of Nos1ap expression has limited but significant impact on electrocardiographic features.	G3 (Bethesda, Md.) (November 2023)	Nos1ap^{tm1a(KOMP)Wtsi}	PMC10627271

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Nos1^{tm47880(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nos1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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