Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Gliosis, Loss of Purkinje cells in the cerebellar ... |
OMIM:225753 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
Huntington Disease |
|
Gliosis, Cerebellar atrophy |
OMIM:143100 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Gliosis, Cerebellar vermis atrophy |
OMIM:213200 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... |
OMIM:273250 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis, Cerebellar atrophy, Cerebellar hemisphere hypoplasia |
OMIM:615095 |
Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar hypoplasia, Abnormal astrocyte morphology, Cerebellar atrophy, Gliosis |
ORPHA:168486 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Gliosis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gliosis, Cerebellar atrophy |
OMIM:618369 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
Hemimegalencephaly |
|
Gliosis, Abnormal neuron morphology |
ORPHA:99802 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gliosis |
OMIM:604484 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Prostate cancer, Ovarian neoplasm, Abnormal fallopian tube morphology |
ORPHA:145 |
Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... |
ORPHA:755 |
Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis |
OMIM:604218 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
Spinocerebellar Ataxia 17 |
|
Gliosis, Cerebellar atrophy |
OMIM:607136 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
L-2-Hydroxyglutaric Aciduria |
|
Gliosis, Cerebellar atrophy |
OMIM:236792 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Gliosis, Abnormal cerebellum morphology |
OMIM:300957 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Cerebellar atrophy |
OMIM:612936 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Gliosis, Abnormal lower motor neuron morphology |
ORPHA:275872 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Gliosis |
OMIM:221820 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... |
OMIM:194072 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... |
OMIM:614841 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Gliosis, Cerebellar gliosis, Cerebellar cyst |
ORPHA:79243 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Gliosis |
ORPHA:457240 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gliosis |
OMIM:221770 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... |
ORPHA:90797 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Gliosis |
OMIM:603896 |
Perrault Syndrome 3 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis |
ORPHA:204 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar hypoplasia, Gliosis, Cerebellar atrophy |
OMIM:214150 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Abnormal cerebellum morphology, Gliosis |
OMIM:169500 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... |
OMIM:614837 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Gliosis |
OMIM:277470 |
Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
Huntington Disease-Like 1 |
|
Gliosis, Cerebellar atrophy |
ORPHA:157941 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Basal ganglia gliosis, Gliosis, Cerebellar atrophy |
OMIM:604377 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Gliosis, Cerebellar atrophy |
OMIM:256600 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Cerebellar hypoplasia, Gliosis |
ORPHA:3240 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis, Cerebellar atrophy |
OMIM:616239 |
Lissencephaly, X-Linked, 2 |
|
Gliosis |
OMIM:300215 |
46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... |
OMIM:278850 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Gliosis, Cerebellar atrophy |
OMIM:109150 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Basal ganglia gliosis, Gliosis, Cerebellar atrophy |
OMIM:614946 |
Leigh Syndrome |
|
Gliosis |
OMIM:256000 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis |
OMIM:614498 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebellar hypoplasia, Gliosis |
ORPHA:280210 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
Kleefstra Syndrome Due To A Point Mutation |
|
Cerebellar hypoplasia, Gliosis |
ORPHA:261652 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Familial Acute Necrotizing Encephalopathy |
|
Gliosis |
ORPHA:88619 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Gliosis, Cerebellar atrophy |
OMIM:617193 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary |
ORPHA:3109 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:615300 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Gliosis |
OMIM:619847 |
Mannosidosis, Alpha B, Lysosomal |
|
Gliosis, Cerebellar atrophy |
OMIM:248500 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Gliosis, Cerebellar atrophy |
OMIM:620451 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology |
ORPHA:247768 |
Leigh Syndrome |
|
Olivopontocerebellar atrophy, Gliosis, Abnormal dentate nucleus morphology, Cerebellar atrophy |
ORPHA:506 |
46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... |
OMIM:154230 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
ORPHA:26791 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... |
OMIM:202010 |
Progressive Supranuclear Palsy |
|
Gliosis |
ORPHA:683 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Papillorenal Syndrome |
|
Gliosis, Chiari type I malformation |
OMIM:120330 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis |
OMIM:607485 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Tay-Sachs Disease |
|
Gliosis, Cerebellar atrophy |
ORPHA:845 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:168558 |
Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... |
ORPHA:432 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:289548 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gliosis |
OMIM:618321 |
Parkinson Disease 1, Autosomal Dominant |
|
Gliosis |
OMIM:168601 |
D-Bifunctional Protein Deficiency |
|
Gliosis, Cerebellar atrophy |
OMIM:261515 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Gliosis, Cerebellar atrophy |
OMIM:301072 |
Cerebrotendinous Xanthomatosis |
|
Abnormal cerebellar peduncle morphology, Abnormal dentate nucleus morphology, Gliosis, Cerebellar... |
ORPHA:909 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Astrocytosis, Cerebellar atrophy, Gliosis |
OMIM:203700 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... |
ORPHA:90796 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis |
OMIM:618222 |
Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis |
OMIM:252160 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Gliosis |
OMIM:252150 |
Hereditary Late-Onset Parkinson Disease |
|
Gliosis |
ORPHA:411602 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Gliosis, Cerebellar atrophy |
ORPHA:404454 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cerebellar hypoplasia, Gliosis, Abnormal pons morphology |
OMIM:300868 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Gliosis |
OMIM:620371 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
Congenital Disorder Of Deglycosylation 1 |
|
Gliosis |
OMIM:615273 |
Cockayne Syndrome |
|
Cerebellar dentate nucleus calcification, Gliosis, Cerebellar atrophy |
ORPHA:191 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... |
ORPHA:90794 |
Supranuclear Palsy, Progressive, 1 |
|
Astrocytosis, Gliosis |
OMIM:601104 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Helsmoortel-Van Der Aa Syndrome |
|
Gliosis |
OMIM:615873 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Gliosis, Cerebellar atrophy |
OMIM:124000 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Cerebellar vermis hypoplasia, Gliosis, Hypoplasia of the pons |
OMIM:620455 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gliosis |
ORPHA:268261 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Supranuclear Palsy, Progressive, 2 |
|
Gliosis |
OMIM:609454 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... |
OMIM:241080 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism |
OMIM:614527 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Gliosis |
OMIM:617403 |
Diets-Jongmans Syndrome |
|
Gliosis |
OMIM:618846 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Gliosis |
OMIM:220111 |
Gabriele-De Vries Syndrome |
|
Gliosis |
ORPHA:506358 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... |
OMIM:618280 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... |
ORPHA:322 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia |
OMIM:618419 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus |
OMIM:137920 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... |
OMIM:201750 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture |
OMIM:130050 |
Hydrolethalus Syndrome 1 |
|
Bifid uterus, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:135900 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
ORPHA:572333 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism |
OMIM:276820 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
Peters Plus Syndrome |
|
Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia |
ORPHA:709 |
Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... |
OMIM:601803 |
Peters-Plus Syndrome |
|
Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of the ute... |
OMIM:261540 |