Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
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 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... |
OMIM:615842 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... |
OMIM:229070 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... |
ORPHA:90797 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:614299 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea |
ORPHA:3282 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Atypical Rett Syndrome |
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Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Holocarboxylase Synthetase Deficiency |
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Respiratory distress, Tachypnea |
ORPHA:79242 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Male infertility, Congenital hypoparathyroidism |
ORPHA:2239 |
Joubert Syndrome 3 |
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Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Pyruvate Dehydrogenase Deficiency |
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Dyspnea, Tachypnea |
ORPHA:765 |
Citrullinemia Type I |
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Tachypnea |
ORPHA:247525 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
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Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
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Respiratory failure, Tachypnea |
OMIM:615838 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Pulmonary arterial hypertension, Tachypnea |
OMIM:614857 |
Propionic Acidemia |
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Tachypnea, Apnea |
OMIM:606054 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
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Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Tetanus |
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Respiratory distress, Tachypnea |
ORPHA:3299 |
Cardiocranial Syndrome, Pfeiffer Type |
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Episodic tachypnea |
ORPHA:2872 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Pulmonary arterial hypertension, Tachypnea |
OMIM:613320 |
Congenital Myopathy 21 With Early Respiratory Failure |
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Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Holocarboxylase Synthetase Deficiency |
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Tachypnea, Hyperventilation |
OMIM:253270 |
Fructose-1,6-Bisphosphatase Deficiency |
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Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Respiratory arrest, Tachypnea |
OMIM:201475 |
Coronary Arterial Fistula |
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Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Absent outer dynein arms |
OMIM:244400 |
Perry Syndrome |
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Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
Postpoliomyelitis Syndrome |
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Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
Pulmonary Alveolar Microlithiasis |
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Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Complete Atrioventricular Septal Defect |
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Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Joubert Syndrome With Oculorenal Defect |
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Tachypnea, Apnea |
ORPHA:2318 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
Coccidioidomycosis |
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Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... |
ORPHA:228123 |
Congenital Tricuspid Valve Dysplasia |
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Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Ullrich Congenital Muscular Dystrophy 2 |
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Nocturnal hypoventilation |
OMIM:616470 |
Fanconi Anemia, Complementation Group A |
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Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
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Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Hypoxemia, Tachypnea |
ORPHA:860 |
Joubert Syndrome |
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Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Brachytelephalangic Chondrodysplasia Punctata |
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Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Perry Syndrome |
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Central hypoventilation |
ORPHA:178509 |
Autosomal Dominant Polycystic Kidney Disease |
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Reduced sperm motility |
ORPHA:730 |
Carney Complex |
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Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Elevat... |
ORPHA:1359 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
Biotinidase Deficiency |
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Tachypnea, Apnea |
OMIM:253260 |
Cholera |
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Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Tachypnea |
OMIM:239200 |
Atrial Septal Defect, Ostium Primum Type |
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Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... |
ORPHA:99106 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Tachypnea |
OMIM:615934 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Cough |
ORPHA:134 |
Double Outlet Right Ventricle |
|
Tachypnea |
ORPHA:3426 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Bicornuate uterus, Epid... |
OMIM:137920 |
Rh Deficiency Syndrome |
|
Hypoxemia, Tachypnea |
ORPHA:71275 |
Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
Bloom Syndrome |
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Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia |
ORPHA:125 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Pneumonia |
ORPHA:36234 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Cocaine Intoxication |
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Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Ethylene Glycol Poisoning |
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Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea |
ORPHA:20 |
Muscular Dystrophy, Duchenne Type |
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Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Malignant Hyperthermia Of Anesthesia |
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Tachypnea, Hypercapnia |
ORPHA:423 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:213300 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:618278 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Pyruvate Carboxylase Deficiency |
|
Tachypnea, Abnormal pattern of respiration |
ORPHA:3008 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema |
OMIM:613658 |
Histiocytoid Cardiomyopathy |
|
Tachypnea, Cough |
ORPHA:137675 |
Double Outlet Left Ventricle |
|
Tachypnea |
ORPHA:3427 |
Cystic Fibrosis |
|
Male infertility, Pancreatitis, Exocrine pancreatic insufficiency |
OMIM:219700 |
Arima Syndrome |
|
Dyspnea, Tachypnea |
OMIM:243910 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional dyspnea |
OMIM:233450 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea |
ORPHA:415 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation |
OMIM:620275 |
Exercise-Induced Malignant Hyperthermia |
|
Tachypnea, Crackles, Hypocapnia |
ORPHA:466650 |
Noonan Syndrome 1 |
|
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias |
OMIM:163950 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Scorpion Envenomation |
|
Abnormal nasal mucus secretion, Tachypnea |
ORPHA:466677 |
Cystinosis, Nephropathic |
|
Male infertility, Hypohidrosis, Primary hypothyroidism, Male hypogonadism, Exocrine pancreatic in... |
OMIM:219800 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure |
ORPHA:610 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation |
OMIM:606056 |
Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation |
OMIM:620155 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypoventilation, Recurrent pneumonia |
OMIM:618493 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea |
OMIM:220111 |
Truncus Arteriosus |
|
Tachypnea |
ORPHA:3384 |
Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:99949 |
Prader-Willi Syndrome |
|
Hypoventilation |
OMIM:176270 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation |
OMIM:203700 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Asthma, Central hypoventilation, Cardiorespiratory arrest |
ORPHA:293987 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax |
ORPHA:731 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation |
ORPHA:438213 |