| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... |
ORPHA:983 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... |
OMIM:612965 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... |
ORPHA:91359 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... |
ORPHA:1916 |
| 46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Abnormal internal geni... |
OMIM:273250 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
| 46,Xy Sex Reversal 7 |
|
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... |
OMIM:233420 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... |
ORPHA:755 |
| Testicular Agenesis |
|
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:325124 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Hypoventilation |
OMIM:618232 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular dysgenesis, Hypoplasi... |
ORPHA:168563 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
| 46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Respiratory insufficiency, Central hypoventilation, Apnea |
OMIM:300673 |
| Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... |
ORPHA:99429 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Nocturnal hypoventilation |
OMIM:616470 |
| Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Micropenis, Ambiguous genitalia, Fused labia majora, Clitoral hypertrophy, ... |
ORPHA:90797 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| Postpoliomyelitis Syndrome |
|
Respiratory insufficiency, Hypoventilation |
ORPHA:2942 |
| Vaginal Atresia |
|
Uterus didelphys, Cervicitis, Imperforate hymen, Transverse vaginal septum, Vaginal atresia, Abno... |
ORPHA:65681 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Hypoplasia of the... |
OMIM:614841 |
| Perry Syndrome |
|
Central hypoventilation |
ORPHA:178509 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Sleep apnea, Respiratory failure, Central hypoventilation, Apnea |
OMIM:618233 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypoplasia of the uterus, Azoospermia, Hyp... |
OMIM:614837 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Perry Syndrome |
|
Respiratory insufficiency, Respiratory arrest, Hypoventilation, Central hypoventilation |
OMIM:168605 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis |
OMIM:266810 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea |
OMIM:617143 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
| Muscular Dystrophy, Duchenne Type |
|
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Hypoventilation... |
OMIM:310200 |
| Joubert Syndrome 8 |
|
Hyperventilation |
OMIM:612291 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypercapnia, Hypoxemia, Hypoventilation, Central hypoventilation, Apnea, Nocturnal hypoventilation |
OMIM:209880 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
| Lumbar Syndrome |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... |
ORPHA:83628 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Hyperventilation |
ORPHA:98784 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperventilation |
OMIM:610042 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
| Childhood Absence Epilepsy |
|
Hyperventilation |
ORPHA:64280 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Aspiration pneumonia, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumonia |
ORPHA:314655 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Intermittent hyperventilation, Respiratory distress, Episodic tachypnea, Apneic episodes... |
ORPHA:348 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Micropenis, Ambiguous genitalia, male, Precocious puberty in females, Female external genitalia i... |
ORPHA:90793 |
| Rett Syndrome |
|
Intermittent hyperventilation, Apnea |
OMIM:312750 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Restrictive ventilatory defect, Respiratory insufficiency due to m... |
ORPHA:70 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hyperventilation |
OMIM:618775 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory insufficiency, Hypove... |
ORPHA:98915 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... |
ORPHA:168558 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... |
ORPHA:289548 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys |
OMIM:146255 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Hypoplastic female external genitalia |
OMIM:606056 |
| Encephalitis Lethargica |
|
Hyperventilation |
ORPHA:83600 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased testicular size, Hypoplasia of the vagina, Clitoral hypertrophy, Hypoplasia of the uter... |
OMIM:202010 |
| Cholera |
|
Aspiration pneumonia, Tachypnea, Hyperventilation |
ORPHA:173 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Sleep apnea, Recurrent pneumonia, Hypoventilation |
OMIM:618493 |
| Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Hypoventilation |
ORPHA:610 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Prader-Willi Syndrome |
|
Cryptorchidism, Micropenis, External genital hypoplasia, Hypoplastic labia minora, Hypoventilatio... |
OMIM:176270 |
| Mogs-Cdg |
|
External genital hypoplasia, Hypoventilation, Apnea, Respiratory distress, Hydrocele testis |
ORPHA:79330 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hypoventilation |
OMIM:620155 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Intermittent hyperventilation |
ORPHA:163681 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Pulmonary arterial hypertension, Respiratory insufficiency, Intercostal muscle weakne... |
ORPHA:258 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cardiorespiratory arrest, Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Oeis Complex |
|
Absent scrotum, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Epispadias, Labial hypopla... |
OMIM:258040 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Aspiration pneumonia, Hypopnea, Restrictive ventilatory defect, Hypoventilation, Apnea |
OMIM:619482 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Sleep apnea, Central apnea, Hyperventilation |
ORPHA:522077 |
| Cocaine Intoxication |
|
Hyperventilation, Cough, Respiratory distress, Pneumothorax, Tachypnea, Wheezing |
ORPHA:90068 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Episodic respiratory distress, Dyspnea, Apnea, Hyperventilation |
ORPHA:255210 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Vaginal atresia, Aplasia of the uterus, Uterus didelphys |
ORPHA:2237 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Hyperventilation |
OMIM:618050 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Hyperventilation |
OMIM:617799 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Decreased testicular size, Ambiguous genitalia, Fused labia majora... |
ORPHA:90794 |
| Pitt-Hopkins Syndrome |
|
Sleep apnea, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation |
OMIM:300749 |
| Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus |
OMIM:271520 |
| Pontocerebellar Hypoplasia Type 7 |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... |
ORPHA:284339 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Respiratory insufficiency, Hypoventilation |
ORPHA:99949 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Aplasia of the vagina, Aplasia of the uterus |
OMIM:614527 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Repeated pneumothoraces, Pulmonary bulla, Cervical insufficiency, Cryptorchidism, Spontaneous pne... |
OMIM:130050 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Acute Liver Failure |
|
Abnormal pattern of respiration, Abnormal respiratory system physiology, Hypocapnia, Hyperventila... |
ORPHA:90062 |
| Cardiac-Urogenital Syndrome |
|
Tracheomalacia, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Ambiguous genitalia, Bifid s... |
OMIM:618280 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation |
OMIM:203700 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cardiorespiratory arrest, Hypoventilation, Central hypoventilation, Obstructive sleep apnea, Asthma |
ORPHA:293987 |
| Exstrophy-Epispadias Complex |
|
Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Absent penis, Bifid uterus, C... |
ORPHA:322 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Cryptorchidism, Aspiration pneumonia, Central sleep apnea, Hypoventilation, Apnea, Obstructive sl... |
ORPHA:438213 |
| Limb-Mammary Syndrome |
|
Aplasia of the ovary, Aplasia of the uterus |
ORPHA:69085 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure, Hypoventilation |
ORPHA:731 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Cryptorchidism, Precocious puberty, Aplasia of the uterus |
OMIM:194190 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
| Hydrolethalus Syndrome 1 |
|
Bifid uterus, Abnormal vagina morphology, Hypospadias |
OMIM:236680 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Small scrotum, Hypospadias |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Rectoperineal fistula, Cryptorchidism, Bifid uterus, Bifid scrotum, Rectovaginal fistula, Hypospa... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Vascular Ehlers-Danlos Syndrome |
|
Cryptorchidism, Respiratory insufficiency, Uterine rupture, Sleep apnea, Cystocele, Pneumothorax,... |
ORPHA:286 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Pallister-Killian Syndrome |
|
Cryptorchidism, Hyperventilation, Labial hypoplasia, Hypoplastic labia majora, Small scrotum, Hyp... |
OMIM:601803 |
| Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
| Spondyloepiphyseal Dysplasia Tarda |
|
|
ORPHA:93284 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
|
OMIM:313400 |
