Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Cervical Cancer |
|
Cervix cancer |
OMIM:603956 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries |
ORPHA:488191 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Postural tremor, Limb ataxia, Depression, Gait ataxia, Abnormal ves... |
OMIM:193003 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Spinocerebellar Ataxia 6 |
|
Ataxia, Vertigo, Truncal ataxia, Dysmetria, Progressive cerebellar ataxia, Dysphagia, Abnormal ve... |
OMIM:183086 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Dementia, Dysphagia, Memory impairment, ... |
ORPHA:247234 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cereb... |
ORPHA:504476 |
Friedreich Ataxia |
|
Diabetes mellitus, Dystonia, Hearing impairment, Chorea, Impaired proprioception, Dysmetria, Gait... |
ORPHA:95 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Usher Syndrome |
|
Abnormal vestibular function, Ataxia, Sensorineural hearing impairment, Vestibular areflexia, Dep... |
ORPHA:886 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign |
OMIM:614575 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Hearing im... |
ORPHA:208441 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment |
OMIM:620270 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Ovarian Hyperstimulation Syndrome |
|
Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... |
ORPHA:64739 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Juvenile Huntington Disease |
|
Hyperactivity, Ataxia, Chorea, Depression, Gait ataxia, Irritability, Progressive cerebellar atax... |
ORPHA:248111 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... |
ORPHA:261529 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration |
OMIM:615924 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Huntington Disease |
|
Bradyphrenia, Dystonia, Oral-pharyngeal dysphagia, Aggressive behavior, Chorea, Mental deteriorat... |
ORPHA:399 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... |
OMIM:615300 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... |
ORPHA:98818 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate ut... |
ORPHA:2745 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma |
ORPHA:2869 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia |
ORPHA:3240 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Abnormal vestibulo-ocular reflex, Cognitive impairment, Hearin... |
ORPHA:1620 |
Marchiafava-Bignami Disease |
|
Ataxia, Confusion, Aggressive behavior, Vertigo, Depression, Gait ataxia, Dementia, Addictive alc... |
ORPHA:221074 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79084 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Long penis, Increased pineal volume, Clitoral hypertrophy |
ORPHA:769 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... |
ORPHA:2298 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Perrault Syndrome 2 |
|
Streak ovary |
OMIM:614926 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Whim Syndrome 1 |
|
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia |
OMIM:193670 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... |
OMIM:609425 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog... |
ORPHA:309246 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:619151 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Premature Ovarian Failure 5 |
|
Streak ovary, Hypoplasia of the ovary |
OMIM:611548 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Increased circulating ACTH level... |
ORPHA:43 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... |
ORPHA:99429 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... |
OMIM:228300 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Short attention span... |
ORPHA:209905 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Abnormal neuron morphology, Menta... |
ORPHA:163681 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:619834 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries |
ORPHA:280356 |
Premature Ovarian Failure 9 |
|
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:615724 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Hyperactivity, Dysmetria, Gait ataxia |
OMIM:618090 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Progressive psychomotor deterioration, Hyperinsulinemia, Gait atax... |
ORPHA:363400 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Mental deterioration, Ovarian cyst, Emotional lability, Depression |
OMIM:610475 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:615723 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:3085 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Azoospermia, Hypoplasia of the ovary, Elevated ci... |
OMIM:612885 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Dysphagia, Gait... |
ORPHA:500180 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... |
ORPHA:95699 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hyp... |
ORPHA:449291 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circu... |
OMIM:608747 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Anorexia, Depression |
ORPHA:178029 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Pulsatile tin... |
OMIM:168000 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... |
ORPHA:201 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary |
OMIM:609993 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Ataxia-Telangiectasia |
|
Abnormal testis morphology, Cognitive impairment, Polycystic ovaries |
ORPHA:100 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Elevated circulating follicle stimulating hormone level |
OMIM:620311 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder |
OMIM:617914 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Dysmetria, Dysdiadochokinesis, Truncal ataxia... |
ORPHA:228360 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive manner... |
OMIM:618718 |
Preeclampsia |
|
Polycystic ovaries |
ORPHA:275555 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610217 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... |
OMIM:301013 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Pulsatile tinnitus, Chemodectoma, Adrenal pheochromocytoma, Glomus... |
OMIM:605373 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Ovarian Dysgenesis 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614324 |
Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav... |
OMIM:252920 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Micropenis, Hypoplasia of the ovary |
OMIM:618841 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79085 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder, Polycystic ovaries |
ORPHA:284180 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis |
OMIM:164745 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Ch... |
ORPHA:35069 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffuse goiter, Increas... |
ORPHA:525731 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia |
OMIM:222100 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries |
ORPHA:1227 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, A... |
OMIM:601853 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium, Hearing... |
ORPHA:100924 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Decreased testicular size, Ri... |
ORPHA:335 |
Prune Belly Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Cognitive impairment, Decreased testicular size, Uroge... |
ORPHA:2970 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Increased circulating gonadotropin level, Gonadal dysgenesis, Ambiguous genitalia, ... |
ORPHA:243 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Pri... |
ORPHA:139396 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
East Syndrome |
|
Salt craving, Ataxia, Sensorineural hearing impairment, Hyperaldosteronism, Increased circulating... |
ORPHA:199343 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Macrotia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Familial Cold Urticaria |
|
Dysesthesia, Polydipsia, Sensorineural hearing impairment |
ORPHA:47045 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:435651 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries |
ORPHA:435660 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Tremor, Ma... |
ORPHA:247585 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, ... |
ORPHA:98794 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... |
ORPHA:2237 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
ORPHA:85327 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... |
ORPHA:90795 |
Methanol Poisoning |
|
Type I diabetes mellitus, Confusion, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
Donohue Syndrome |
|
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy |
OMIM:246200 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries... |
ORPHA:528 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Lipodystrophy, Familial Partial, Type 3 |
|
Polycystic ovaries |
OMIM:604367 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia, Diabetes insipidus |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Irritability, Polydipsia |
OMIM:125800 |
Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad... |
ORPHA:95513 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Attention deficit hyperacti... |
ORPHA:8 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup... |
ORPHA:369929 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... |
ORPHA:168558 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatomegaly, Polycystic ovaries |
ORPHA:2348 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
Cowden Syndrome 6 |
|
Hydrocele testis, Ovarian cyst, Varicocele, Goiter |
OMIM:615109 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... |
ORPHA:289548 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... |
OMIM:609152 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
Cowden Syndrome 5 |
|
Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615108 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Hyperaldosteronism, I... |
OMIM:612780 |
Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Addictive alcohol use, Confusion, Increased circulating procalcitonin concentr... |
ORPHA:36238 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, O... |
ORPHA:744 |
Cowden Syndrome 1 |
|
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter |
OMIM:158350 |
Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm |
OMIM:175200 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Hepatomegaly, Polycystic ovaries |
ORPHA:79083 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Addictive alcohol use, Cognitive impairment, Memory impairm... |
ORPHA:90065 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Tremor, Phonic tics, Depression, Choreoathetosis, Blepharospasm,... |
OMIM:234200 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test |
OMIM:615866 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Abno... |
ORPHA:1655 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Tinnitus,... |
ORPHA:231580 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy |
OMIM:300707 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Impaired vibratory sensation, Se... |
ORPHA:2388 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Micropenis, Bicornuate uterus |
OMIM:264480 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Wolfram Syndrome |
|
Diabetes mellitus, Ataxia, Sensorineural hearing impairment, Dementia, Hypogonadism, Delayed pube... |
ORPHA:3463 |
Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Enlarged kidney |
OMIM:608978 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Cognitive impairment |
OMIM:615994 |
Short Syndrome |
|
Ovarian cyst |
OMIM:269880 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of th... |
ORPHA:93111 |
Cystic Echinococcosis |
|
Hepatomegaly, Abnormality of the testis size, Ovarian cyst |
ORPHA:400 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Hypothyroidism, Delayed puberty, Type I diabetes mellitus, Polydi... |
ORPHA:213 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia |
ORPHA:140952 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:95626 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... |
ORPHA:562 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Whipple Disease |
|
Ataxia, Anorexia, Depression, Polydipsia, Hypothyroidism |
ORPHA:3452 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... |
OMIM:137920 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major... |
OMIM:618419 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Fryns Syndrome |
|
Cryptorchidism, Bicornuate uterus, Hypospadias |
ORPHA:2059 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus |
ORPHA:3440 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple |
OMIM:200980 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, D... |
ORPHA:320 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Sensorineural hearing impairment, Polydipsia, A... |
ORPHA:3157 |
Rhombencephalosynapsis |
|
Abnormality of the uterus |
ORPHA:59315 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Hypogonadism, Vaginal atresia, Left ventricular hypertrophy, Micropeni... |
OMIM:209900 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism, Enlarged kidney |
OMIM:618188 |
Alg9-Cdg |
|
Hepatomegaly, Irritability, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipples, Enla... |
ORPHA:79328 |
Pagod Syndrome |
|
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... |
ORPHA:991 |
Infantile Systemic Hyalinosis |
|
Polycystic ovaries |
ORPHA:2176 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Micropenis, Hypospadias, Endometriosis |
ORPHA:363444 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Hepatomegaly, Polycystic ovaries |
ORPHA:79240 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Vertigo, Increased circulating renin level, Paresthesia, Delayed puberty, P... |
OMIM:263800 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Polycystic ovaries |
ORPHA:79086 |
Isolated Osteopoikilosis |
|
Abnormality of the endocrine system, Addictive alcohol use |
ORPHA:166119 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... |
ORPHA:293987 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina |
OMIM:617925 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... |
OMIM:269150 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... |
ORPHA:69085 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use |
ORPHA:399180 |
Bartsocas-Papas Syndrome 1 |
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Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... |
OMIM:263650 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Hepatomegaly, Polycystic ovaries |
ORPHA:264580 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:614083 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... |
ORPHA:99776 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Breast aplasia, Hypoplastic nipples, Abnormality of the uterus |
ORPHA:3138 |
Fibrous Dysplasia Of Bone |
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Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... |
ORPHA:249 |
Von Hippel-Lindau Disease |
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Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Vertigo, Adrenal pheochromocytoma, Par... |
ORPHA:892 |
Carney Complex |
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Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... |
ORPHA:1359 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Labial pseudohypertrophy, Polycystic ovaries |
OMIM:151660 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Splenomegaly, Hepatomegaly, Polycystic ovaries |
ORPHA:280365 |
Pituitary Dermoid And Epidermoid Cysts |
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Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... |
ORPHA:91351 |
Ethylene Glycol Poisoning |
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Addictive alcohol use, Confusion, Ataxia, Euphoria |
ORPHA:31826 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic... |
OMIM:181450 |
Hyperparathyroidism, Neonatal Severe |
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Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Polydipsia |
OMIM:239200 |
Teratoma, Pineal |
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Polydipsia |
OMIM:273120 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Acute Promyelocytic Leukemia |
|
Vertigo, Addictive alcohol use, Anorexia |
ORPHA:520 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Hyperactivity, Short attention span, Pain insensitivity, Somatic sensory dysfunction... |
ORPHA:642 |
Phocomelia, Schinzel Type |
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Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Fanconi Anemia |
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Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Bicornuate uterus, Hypog... |
ORPHA:84 |
Microsporidiosis |
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Abnormality of the parathyroid gland, Prostatitis, Abnormal endometrium morphology, Abnormal fall... |
ORPHA:2552 |
Fryns Syndrome |
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Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... |
OMIM:229850 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... |
ORPHA:2052 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus |
OMIM:236680 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Clitoral hypertrophy |
OMIM:608594 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryp... |
OMIM:270400 |
Nephrogenic Diabetes Insipidus |
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Nephrogenic diabetes insipidus, Polydipsia, Anorexia |
ORPHA:223 |
Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Clitoral hypertrophy |
OMIM:269700 |
Fraser Syndrome 1 |
|
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy |
OMIM:219000 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Vertigo, Diabetic ketoacidosis, Type I diabetes mellitus, Type I... |
ORPHA:358 |
Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Aplasia of the uterus,... |
OMIM:618280 |
Norrie Disease |
|
Cryptorchidism, Irritability, Attention deficit hyperactivity disorder, Uterine rupture |
ORPHA:649 |
Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst |
OMIM:311200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Cognitive impairment, Hepatomegaly, Enlarged kidney, Polycystic ovaries |
ORPHA:79259 |
Okamoto Syndrome |
|
Splenomegaly, Bifid uterus |
ORPHA:2729 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Abnormality of thyroid physiology, Cognitive impairment |
ORPHA:411629 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating parathyroid ho... |
ORPHA:99880 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Parathyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating parathyroid ho... |
ORPHA:143 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Bicornuate uterus, Hypospadias, Right ventricular hypertrophy |
OMIM:265380 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Elevated circulating parathyroid hormone level |
OMIM:248250 |
Erdheim-Chester Disease |
|
Polydipsia, Ataxia, Hypogonadotropic hypogonadism, Diabetes insipidus |
ORPHA:35687 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Porphyria Cutanea Tarda |
|
Diabetes mellitus, Addictive alcohol use |
ORPHA:101330 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly |
OMIM:274000 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia |
ORPHA:93271 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Abnormal salivary gland morphology, Bicornuate uterus, Lacrimal gland aplasia |
ORPHA:2363 |
Helix Syndrome |
|
Hyperparathyroidism, Polydipsia |
OMIM:617671 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hepatosplenomegaly, Small ... |
OMIM:619503 |
Oligomeganephronia |
|
Polydipsia, Hearing impairment |
ORPHA:2260 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Digeorge Syndrome |
|
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... |
OMIM:188400 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Cryptorchidism, Splenomegaly, Ambiguous genitalia, female, Ambiguous... |
OMIM:249000 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Hyperaldosteronism, Sensorineural hearing impairment |
OMIM:602522 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Cognitive impairment, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Cystinosis, Nephropathic |
|
Diabetes mellitus, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Dysphagia, Pr... |
OMIM:219800 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Depression, Hypoplasia of the thym... |
ORPHA:567 |
Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Increased circulating gonadotropin level, Depression, Gonadoblastoma, Attention deficit hyperacti... |
ORPHA:99413 |
Turner Syndrome |
|
Increased circulating gonadotropin level, Depression, Gonadoblastoma, Attention deficit hyperacti... |
ORPHA:881 |
Mosaic Monosomy X |
|
Increased circulating gonadotropin level, Depression, Gonadoblastoma, Attention deficit hyperacti... |
ORPHA:99228 |
Monosomy X |
|
Increased circulating gonadotropin level, Depression, Gonadoblastoma, Attention deficit hyperacti... |
ORPHA:99226 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... |
OMIM:261540 |
Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Anterior hypopituitarism |
ORPHA:709 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Pare... |
OMIM:241200 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Clitoral hyper... |
OMIM:268300 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Enlarged vestibular aqueduct, Sensorineural hearing impairment |
ORPHA:18 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia |
ORPHA:537 |
Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
Arima Syndrome |
|
Polydipsia, Ataxia |
OMIM:243910 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi... |
ORPHA:672 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Abnormality of the ut... |
ORPHA:199 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cardiomegaly, Precocious puberty, Cryptorchid... |
ORPHA:904 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... |
ORPHA:857 |
Autosomal Recessive Polycystic Kidney Disease |
|
Low-set ears, Polydipsia, Cognitive impairment |
ORPHA:731 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Hypothyroidism |
ORPHA:411634 |
Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Cervical insufficiency |
ORPHA:287 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Uterine prolapse, Incr... |
ORPHA:438213 |
Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse, Left ventricular hypertrophy |
ORPHA:284984 |
Loeys-Dietz Syndrome 3 |
|
Uterine prolapse, Cystocele, Left ventricular hypertrophy |
OMIM:613795 |
Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Aplas... |
OMIM:601803 |
Proximal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:47159 |
Alström Syndrome |
|
Hepatomegaly, Precocious puberty in females, Decreased response to growth hormone stimulation tes... |
ORPHA:64 |