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Gene: Tmem203 MGI:2443597

Gene Summary

Name:

transmembrane protein 203

Synonyms:

C730025P13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased heart rate	Tmem203^em1(IMPC)H	HOM	Early adult	1.05×10^-07
prolonged RR interval	Tmem203^em1(IMPC)H	HOM	Early adult	6.60×10^-12
increased heart weight	Tmem203^em1(IMPC)H	HOM	Early adult	5.11×10^-08
increased circulating calcium level	Tmem203^em1(IMPC)H	HOM	Early adult	2.53×10^-08
decreased prepulse inhibition	Tmem203^em1(IMPC)H	HOM	Early adult	4.59×10^-06
decreased circulating HDL cholesterol level	Tmem203^em1(IMPC)H	HOM	Early adult	2.90×10^-07
increased circulating alkaline phosphatase level	Tmem203^em1(IMPC)H	HOM	Early adult	1.39×10^-19
decreased circulating cholesterol level	Tmem203^em1(IMPC)H	HOM	Early adult	4.67×10^-09
male infertility	Tmem203^em1(IMPC)H	HOM	Early adult	0.00
abnormal retina morphology	Tmem203^em1(IMPC)H	HOM	Early adult	4.33×10^-05
hyperactivity	Tmem203^em1(IMPC)H	HOM	Early adult	5.10×10^-28

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

2 Images

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Human diseases caused by Tmem203 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 Tmem203 (0 diseases)
Human diseases predicted to be associated with Tmem203 (613 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tmem203 by phenotypic similarity.

Disease	Matching phenotypes	Source
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
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
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
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
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
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 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
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 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
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 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 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
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 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
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
Morbid Obesity And Spermatogenic Failure	Obesity, Azoospermia, Type II diabetes mellitus, Oligozoospermia, Infertility	OMIM:615703
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick ...	OMIM:617182
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
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
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon...	OMIM:614840
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Young Syndrome	Azoospermia	OMIM:279000
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
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
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Retinal degeneration, Bradycardia	OMIM:617173
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele...	OMIM:604765
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu...	OMIM:300200
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Dysphagia, Mildly elevated creatine kinase, Bradycardia	OMIM:620265
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Hydrocephalus-Obesity-Hypogonadism Syndrome	Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia, Hypergonadotropic hypogonadism	ORPHA:2183
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Decreased plasma free carnitine, Left ventricu...	OMIM:619048
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi...	ORPHA:66529
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Hypertensive retinopathy, Episodic hyp...	OMIM:171420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept...	OMIM:601005
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Adamantinoma	Hypercalcemia	ORPHA:55881
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradyc...	OMIM:614702
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dysp...	OMIM:616276
Atrial Standstill 2	Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Bradycardia, Hepatome...	OMIM:618235
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Ele...	OMIM:212138
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Abnormal heart morphology, Hypocalcemia	DECIPHER:16
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures	ORPHA:94090
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B...	OMIM:616299
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc...	ORPHA:8
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Retinal degeneration, Arrhythmia, Bradycardia, S...	ORPHA:542306
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Primary amenorrhea, Hypercholesterolemia, Hypertr...	OMIM:612526
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia	OMIM:614654
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Splenomegaly	OMIM:610539
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Retinal degeneration, Decreased LDL...	OMIM:615558
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Muscular Dystrophy, Becker Type	Arrhythmia, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:300376
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Hypertensive retinopathy, Episodic hyp...	OMIM:171300
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for...	ORPHA:261519
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia	ORPHA:2123
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s...	ORPHA:753
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De...	ORPHA:280679
Rhabdoid Tumor	Hypertension, Hypercalcemia, Internal hemorrhage	ORPHA:69077
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Abnormal retinal morphology on macular OCT, Polyphagia, Increased blood urea nitro...	ORPHA:251004
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,...	OMIM:620152
48,Xyyy Syndrome	Male hypogonadism, Primary gonadal insufficiency, Azoospermia	ORPHA:99329
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A...	ORPHA:320391
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hypocholesterolemia, Patent foramen ovale, Atrial septal defect, Hyper...	OMIM:610883
N Syndrome	Abnormality of chromosome stability, Hypospadias, Cryptorchidism	OMIM:310465
48,Xxyy Syndrome	Decreased testicular size, Obesity, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infer...	ORPHA:10
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m...	OMIM:235200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616277
Ring Chromosome 21 Syndrome	Amenorrhea, Azoospermia, Diabetes insipidus, Infertility	ORPHA:1445
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,...	OMIM:615184
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95717
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Rod-cone dys...	OMIM:266510
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
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
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility	ORPHA:2239
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea	OMIM:614858
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Dilated cardiomyopathy, Atrioventricular block, Peri...	ORPHA:26793
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou...	ORPHA:57777
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Glycogen Storage Disease Iv	Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, Portal hy...	OMIM:232500
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Elevated circulating creatine kinase conc...	OMIM:618775
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper...	ORPHA:439232
Tetanus	Elevated circulating creatine kinase concentration, Dysphagia, Bradycardia, Tachycardia, Hyperten...	ORPHA:3299
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Acute Adrenal Insufficiency	Hypotension, Decreased female libido, Hyperuricemia, Hyponatremia, Decreased circulating cortisol...	ORPHA:95409
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Hypogonadism, Arrhythmia, Bradycardia, Premature ovarian insufficiency, Dysphagia	OMIM:609286
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra...	OMIM:616834
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo...	OMIM:308750
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:309930
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca...	OMIM:261740
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Sinus tachycardia, Congestive heart failure, Positive regitine bloc...	ORPHA:29072
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Intracranial hemorrhage, Hypercalcemia, Anorexia	OMIM:241500
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Hypocalcemia	ORPHA:172
Morm Syndrome	Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy	ORPHA:75858
Hypophosphatasia	Hypercalcemia	ORPHA:436
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Ventricular arrhythm...	ORPHA:36913
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Hyperprolinemia, Type I	Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:239500
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Vitreous floaters, Cardiomegaly, Arrhythmia, Impotence	ORPHA:85447
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema...	ORPHA:755
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Hypocalc...	ORPHA:94093
Oculoskeletodental Syndrome	Splenomegaly, Hypocalcemia, Lacunar stroke, Hepatomegaly, Hypercalcemia	OMIM:618440
Glycine Encephalopathy 1	Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Glutamine Deficiency, Congenital	Hypoglutaminemia, Hyperammonemia, Bradycardia	OMIM:610015
Monosomy 13Q34	Epistaxis, Hematochezia, Metrorrhagia, Common atrium, Hypercalcemia, Pulmonic stenosis	ORPHA:96168
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Bradycardia, Elevated circulating creatine kinase concentration, Prolonged QT inter...	OMIM:613327
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Complete atrioventricular canal defect, Self-mutilation, Aggressive behavior, Atte...	ORPHA:476126
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Hypocalcemia	ORPHA:100025
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Decreased circulating free fatty acid level, Polyphagi...	ORPHA:276556
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ...	OMIM:300845
Late-Onset Isolated Acth Deficiency	Hypotension, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypot...	ORPHA:199299
48,Xxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Azoospermia, Type II diabetes me...	ORPHA:96263
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Palpitations, Sinus bradycardia, Elevated circulating creat...	OMIM:616812
Hyperparathyroidism, Neonatal Severe	Polydipsia, Splenomegaly, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia	OMIM:239200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:600649
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Abnormal ...	ORPHA:40366
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Squalene Synthase Deficiency	Hypocholesterolemia, Bicuspid aortic valve, Decreased LDL cholesterol concentration, Elevated cir...	OMIM:618156
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95716
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, Pericardi...	OMIM:608776
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
D-Glyceric Aciduria	Tongue thrusting, Bradycardia, Elevated circulating D-glyceric concentration, Nonketotic hypergly...	OMIM:220120
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Decreased circulating free fatty acid level, Polyphagi...	ORPHA:276575
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Angioid streaks of the fundus, Calcinosis	OMIM:211900
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Addison Disease	Hypotension, Decreased female libido, Hyperuricemia, Hyponatremia, Decreased circulating cortisol...	ORPHA:85138
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Bile Acid Synthesis Defect, Congenital, 1	Hypocholesterolemia, Splenomegaly, Hepatomegaly, Steatorrhea, Conjugated hyperbilirubinemia	OMIM:607765
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Colchicine Poisoning	Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Hypokalem...	ORPHA:31824
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia, Hyperkalemia, Fatig...	ORPHA:99845
2P21 Microdeletion Syndrome	Hypogonadism, Hypocalcemia	ORPHA:163693
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Familial Isolated Hypoparathyroidism	Arrhythmia, Hypocalcemia	ORPHA:2238
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Type II diabetes mellitus,...	OMIM:210900
49,Xxxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96264
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia, Hypertrophic cardiomyopathy	OMIM:618810
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Retin...	OMIM:266500
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo...	OMIM:115197
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Bradycardia	OMIM:614498
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia, Polydipsia	OMIM:617994
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphroditism, Eunuchoid...	ORPHA:91
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Decreased circulating free fatty acid level, Polyphagia, Syncope, Hepatomegaly, Tac...	ORPHA:324575
Thymic Neuroendocrine Tumor	Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Pigmentary retinopathy, Hypocholesterolemia, Abetalipoproteinemia, Elevated circul...	ORPHA:96180
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Polyphagia, Syncope, Hepatomegaly, Tachycardia, Increa...	ORPHA:276580
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypopigmentation of the fundus, Congestive heart failure, H...	ORPHA:14
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Necrotizing Enterocolitis	Hypotension, Shock, Abnormal heart morphology, Hyponatremia, Bradycardia	ORPHA:391673
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Hypocalcemia, Truncus arteriosus, Vent...	ORPHA:3426
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Attention deficit ...	ORPHA:90674
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypotension, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypocalc...	ORPHA:428
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ...	OMIM:145600
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral...	ORPHA:746
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Retinopathy	ORPHA:71
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Cardiomyopathy, Steatorrhea, Hypocholesterolemia, Rod-cone dystrophy, Hepatomega...	OMIM:212065
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect	DECIPHER:39
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow...	ORPHA:79239
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab...	ORPHA:251066
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Sheehan Syndrome	Palpitations, Decreased female libido, Hyponatremia, Decreased circulating cortisol level, Amenor...	ORPHA:91355
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures	ORPHA:94089
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Mildly elevated creatine kinase, Bradycardia	OMIM:620351
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Pigmentary retinopathy, Hypomethioninemia, Pulmonary arterial hype...	OMIM:277400
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:601678
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hyperammonemia, Fatigable weakness, Fatigable weakness of neck muscles, Elevated circulating crea...	ORPHA:42
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Abnormal heart morphology, Atrial septal defect, Hypertriglyceridemia...	ORPHA:369837
Hypotonia-Cystinuria Syndrome	Polyphagia, Hypocalcemia, Hypergonadotropic hypogonadism	OMIM:606407
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve...	ORPHA:330015
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia	OMIM:617397
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Shortened QT interval, Hypophosphatemia, Dysphagia, Hypercalcemia	ORPHA:99880
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia	ORPHA:90673
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati...	OMIM:603830
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Anorexia, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle bran...	ORPHA:99827
Parathyroid Carcinoma	Polydipsia, Shortened QT interval, Hypophosphatemia, Dysphagia, Hypercalcemia	ORPHA:143
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Anorexia	OMIM:175500
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Sepsis In Premature Infants	Hypotension, Splenomegaly, Hepatomegaly, Bradycardia, Elevated circulating C-reactive protein con...	ORPHA:90051
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Congestive heart failure, Infertili...	ORPHA:465508
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Ppoma	Gastrointestinal hemorrhage, Increased circulating cortisol level, Anorexia, Hepatomegaly, Hyperc...	ORPHA:97278
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Somatostatinoma	Gastrointestinal hemorrhage, Increased circulating cortisol level, Hepatomegaly, Anorexia, Steato...	ORPHA:97283
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Splenomegaly	ORPHA:29073
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di...	ORPHA:168569
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ...	ORPHA:99826
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Lujo Hemorrhagic Fever	Hypotension, Shock, Myocarditis, Bradycardia, Elevated circulating C-reactive protein concentrati...	ORPHA:319213
Late-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal cir...	ORPHA:556037
Cholera	Hypovolemic shock, Hypotension, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion conce...	ORPHA:173
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Oral-pharyngeal dysphagia, Bradycardia	ORPHA:221098
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Congestive heart...	ORPHA:73224
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly, Increased total bilirubin	ORPHA:90037
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility	OMIM:614874
Pseudohypoparathyroidism, Type Ic	Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations	OMIM:188580
Grfoma	Gastrointestinal hemorrhage, Increased circulating cortisol level, Anorexia, Hepatomegaly, Hyperc...	ORPHA:97261
Williams Syndrome	Mitral regurgitation, Overfriendliness, Ventricular septal defect, Mitral valve prolapse, Bicuspi...	ORPHA:904
Glucagonoma	Gastrointestinal hemorrhage, Increased circulating cortisol level, Hepatomegaly, Anorexia, Steato...	ORPHA:97280
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Facial telangiectasia, Aggressive behavior, Attention deficit hyperacti...	OMIM:620141
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Hypocalcemia, Addictive alcohol use, Prolonged QT i...	ORPHA:31826
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Bradycardia	ORPHA:565624
Alg12-Cdg	Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular ventricular septal defe...	ORPHA:79324
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Delayed menarche, Abnormal eating behav...	ORPHA:247585
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Tachycardia, Dys...	ORPHA:368
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Early-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal cir...	ORPHA:556030
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re...	ORPHA:90363
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, ...	OMIM:618183
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Vipoma	Increased circulating cortisol level, Hypokalemia, Anorexia, Hepatomegaly, Hypercalcemia	ORPHA:97282
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level	ORPHA:249
Carnitine Palmitoyltransferase I Deficiency	Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper...	OMIM:255120
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect	OMIM:126320
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Multiple Endocrine Neoplasia Type 1	Melena, Impotence, Increased circulating cortisol level, Shortened QT interval, Decreased male li...	ORPHA:652
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Hypertension, Calcinosis, D...	OMIM:617913
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Gitelman Syndrome	Hypermagnesemia, Polydipsia, Prominent U wave, Hypomagnesemia, Abnormal T-wave, Palpitations, Hyp...	ORPHA:358
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Albers-Schönberg Osteopetrosis	Optic atrophy, Hypocalcemia	ORPHA:53
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Reduced left ventricu...	OMIM:201475
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hypotension, Shock, Elevated circulating creatinine concentration, Hypocalcemia,...	ORPHA:36234
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Chromosomal breakage i...	OMIM:227650
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Generalized Pustular Psoriasis	Hypoalbuminemia, Congestive heart failure, Hypocalcemia, Hyponatremia, Elevated circulating C-rea...	ORPHA:247353
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Increased circulating cortisol level	OMIM:131100
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Oligomenorrhea, Calcinosis, Pro...	ORPHA:79444
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia, Aggressive behavior, Impulsivity	OMIM:261990
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Motor stereotypy	ORPHA:79155
Bloom Syndrome	Azoospermia, Oligozoospermia, Abdominal obesity, Premature ovarian insufficiency, Diabetes mellit...	ORPHA:125
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Palpitations, Hypercalcemia, Hypertension associated with pheochromocytoma	ORPHA:653
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly...	OMIM:232300
Proximal Spinal Muscular Atrophy	Dysphagia, Atrial septal defect, Bradycardia	ORPHA:70
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Abnormal circulating protein concentration, Elevated circulating carcinoembryonic an...	ORPHA:264675
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, ...	ORPHA:31150
Myotonic Dystrophy 2	Hypogonadism, Palpitations, Elevated circulating creatine kinase concentration, Premature ventric...	OMIM:602668
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia	OMIM:618314
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Elevated cir...	ORPHA:268
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hypoproteinemia	ORPHA:90362
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Splenomegaly, Optic atrophy, Hypocalcemia	OMIM:259700
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia, Increased circulating cortisol level	ORPHA:913
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Fanconi Anemia	Abnormality of the hypothalamus-pituitary axis, Abnormality of chromosome stability, Abnormality ...	ORPHA:84
Yellow Fever	Pancreatic hyperplasia, Shock, Elevated circulating creatinine concentration, Reduced left ventri...	ORPHA:99829
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Optic disc pallor, Atrial septal defect, Ventricular septal defect	OMIM:244450
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr...	OMIM:618838
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Mitral valve prolapse	ORPHA:1563
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo...	ORPHA:466650
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Hypocalcemia, Patent foramen ovale	OMIM:607143
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Weight loss, Oligozoospermia, Abnormal testis morphology, Primary testicular failur...	ORPHA:85450
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Inappropriate laughter, Hypocalcemia	OMIM:618476
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr...	OMIM:305400
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Hypocalcemic Vitamin D-Dependent Rickets	Cardiomyopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hepatomegaly, Hypocalcemic seizures	ORPHA:289157
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Juvenile Nephropathic Cystinosis	Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp...	ORPHA:411634
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Bohring-Opitz Syndrome	Optic atrophy, Cardiomegaly, Retinal atrophy, Abnormal cardiac septum morphology, Bradycardia	ORPHA:97297
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Papilledema, Transient hypophosphatemia, Retinal calcification	OMIM:127000
Dubowitz Syndrome	Hypocholesterolemia, Hyperactivity, Rod-cone dystrophy	OMIM:223370
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	OMIM:264700
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Oligomenorrhea, Calcinosis, Pro...	ORPHA:79443
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia	OMIM:613239
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypocalcemia, Ventricular septal defect, Hepatomegaly, Hypoproteinemia	OMIM:235255
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypertrophic cardiomyopathy, Hypocholesterolemia, Elevated circulating 7-dehydro...	OMIM:270400
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia	OMIM:218700
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Coronary artery stenosis, Retinal arteriolar tortuosity, Su...	OMIM:194050
Hyperthyroidism, Nonautoimmune	Tachycardia, Hyperactivity, Increased circulating thyroglobulin concentration	OMIM:609152
Pearson Syndrome	Pigmentary retinopathy, Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Hypocalcemia, ...	ORPHA:699
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Sarcoidosis	Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ...	ORPHA:797
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Hypoprot...	ORPHA:1655
Velocardiofacial Syndrome	Retinal vascular tortuosity, Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect, Aggres...	OMIM:192430
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Hepatomegaly, ...	OMIM:259720
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur...	OMIM:613426
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Priapism, Congestive heart failure, Bundle branch block, Car...	ORPHA:466677
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Increased circulating cortisol level	ORPHA:276152
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive...	ORPHA:137675
Celiac Disease, Susceptibility To, 1	Steatorrhea, Infertility, Hypocalcemia	OMIM:212750
Cartilage-Hair Hypoplasia	Cardiomyopathy, Hypocalcemia, Abnormality of retinal pigmentation, Abnormal cardiac septum morpho...	ORPHA:175
Wolfram Syndrome 1	Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus	OMIM:222300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Mucopolysaccharidosis Type 2	Abnormal mitral valve morphology, Arrhythmia, Hepatomegaly, Motor stereotypy, Abnormal heart morp...	ORPHA:580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decreased circulating prealbumin con...	ORPHA:37042
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Atrial situs ambiguous, Abnormal heart morphology, A...	ORPHA:244
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormal heart morphology, Hypocalcemic seizures, Hypocalcemia, Rod-cone dystrophy	ORPHA:2237
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hypocalcemia, Elevated circulating creatine kinase concentration, Retinal atrophy,...	ORPHA:2785
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Ventricular septal defect, Atrial septal defect, Heart murmur, ...	ORPHA:163979
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H...	OMIM:248250
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypopho...	ORPHA:667
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Hyperte...	OMIM:208000
Pseudohypoparathyroidism, Type Ia	Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal blood ion concentration, Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Sotos Syndrome	Abnormal heart morphology, Decreased fertility, Ventricular septal defect, Aggressive behavior, A...	ORPHA:821
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Bradycardia	ORPHA:226307
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Fai...	ORPHA:534
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Systolic heart murmur, Dilatation of the ventricula...	OMIM:619991
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Hypocalcemia, Hair-pulling, Ventricular septal defect...	OMIM:620330
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Optic atrophy, Tetralogy of Fallot, Retinal art...	ORPHA:567
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced...	ORPHA:980
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Igg4-Related Thyroid Disease	Dysphagia, Hypocalcemia	ORPHA:64744
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Delayed puberty, Cholelithiasis, Azoospermia	ORPHA:2072
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Hypertension	ORPHA:544482
3-Methylglutaconic Aciduria, Type Viii	Dysphagia, Bradycardia	OMIM:617248
Cystinosis, Nephropathic	Male hypogonadism, Decreased circulating carnitine concentration, Polydipsia, Pigmentary retinopa...	OMIM:219800
Craniofacioskeletal Syndrome	Atrial septal defect, Hypocalcemia, Ventricular septal defect	OMIM:300712
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary insufficiency, R...	OMIM:614437
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Cranioectodermal Dysplasia 1	Hepatomegaly, Bicuspid aortic valve, Hypocalcemia, Retinal dystrophy	OMIM:218330
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Portal hypertension, Hypocalcemia	OMIM:613658
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Papilledema, Retinal calcification, Hypocalcemic seizures	ORPHA:93325
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Hypomagnesemia, Mitral atresia, Bruxism, Stereotypical body rocking, Hepa...	OMIM:619503
Hennekam Syndrome	Pericardial effusion, Splenomegaly, Hypocalcemia	ORPHA:2136
Cystic Fibrosis	Decreased body mass index, Absent vas deferens, Failure to thrive, Male infertility	ORPHA:586
Coccidioidomycosis	Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the endocrine syst...	ORPHA:228123
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre...	OMIM:612716
Charge Syndrome	Secundum atrial septal defect, Retinal coloboma, Tetralogy of Fallot, Hypocalcemia, Self-mutilati...	OMIM:214800
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Dysphagia, Sinus bradycardia	OMIM:619482
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de...	OMIM:142900
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Digeorge Syndrome	Tetralogy of Fallot, Hypocalcemia, Splenomegaly, Truncus arteriosus, Ventricular septal defect, A...	OMIM:188400
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas...	ORPHA:273
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Situs inversus totalis, Hypocalcemia, Splenomegaly, Ventricular septal de...	OMIM:243800
Cystic Fibrosis	Failure to thrive, Male infertility	OMIM:219700
Noonan Syndrome 1	Failure to thrive in infancy, Hypogonadism, Cryptorchidism, Hypospadias, Male infertility	OMIM:163950
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471

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 Tmem203

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 Tmem203.

No publications found that use IMPC mice or data for Tmem203.

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MGI Allele	Allele Type	Produced
Tmem203^em2(IMPC)H	Indel	Mice
Tmem203^em1(IMPC)H	Indel	Mice
Tmem203^{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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Gene: Tmem203 MGI:2443597

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Tmem203 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data