Complement Component 4, Partial Deficiency Of |
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Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Hashimoto Thyroiditis |
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Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Complement Component 8 Deficiency, Type I |
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Systemic lupus erythematosus |
OMIM:613790 |
Lupus Erythematosus Tumidus |
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Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity... |
ORPHA:90283 |
Systemic Lupus Erythematosus 16 |
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Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... |
OMIM:614420 |
Immune Thrombocytopenia |
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Platelet antibody positive |
OMIM:188030 |
Complement Component C1S Deficiency |
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Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
C1Q Deficiency 1 |
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Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Complement Component 2 Deficiency |
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Systemic lupus erythematosus |
OMIM:217000 |
Pandas |
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Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... |
ORPHA:3077 |
Eosinophilopenia |
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Autoimmunity |
OMIM:131430 |
Diabetes Mellitus, Ketosis-Prone |
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Autoimmunity |
OMIM:612227 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Immunoglobulin A Deficiency 2 |
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Autoimmunity |
OMIM:609529 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus |
ORPHA:444463 |
Pemphigus Erythematosus |
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Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
Sjogren Syndrome |
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Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
46,Xy Sex Reversal 3 |
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Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:231154 |
46,Xx Ovotesticular Difference Of Sex Development |
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Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Leydig Cell Hypoplasia |
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Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
46,Xy Sex Reversal 11 |
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Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Complete Androgen Insensitivity Syndrome |
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Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Subcorneal Pustular Dermatosis |
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Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:48377 |
Partial Androgen Insensitivity Syndrome |
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Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Porphyria Due To Ala Dehydratase Deficiency |
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Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation |
ORPHA:100924 |
46,Xy Sex Reversal 7 |
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Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Testicular Agenesis |
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Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Renal And Mullerian Duct Hypoplasia |
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Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
46,Xx Sex Reversal 2 |
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Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... |
ORPHA:90793 |
Lumbar Syndrome |
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Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:289548 |
Hydatidiform Mole |
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Enlarged uterus |
ORPHA:99927 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
Pituitary Adenoma 4, Acth-Secreting |
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Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
Townes-Brocks Syndrome 2 |
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Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Oeis Complex |
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Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
Chromosome 17Q12 Deletion Syndrome |
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Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Pica |
OMIM:614527 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Hyperactivity, Aplasia of the vagina |
ORPHA:457284 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... |
ORPHA:90794 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:614083 |
Meckel Syndrome 14 |
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Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Cryptor... |
ORPHA:353281 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Pontocerebellar Hypoplasia Type 7 |
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Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Cryptor... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Cryptor... |
ORPHA:353277 |
Coffin-Siris Syndrome 1 |
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Clitoral hypertrophy, Gait ataxia, Cryptorchidism, Aggressive behavior, Aplasia of the uterus, Co... |
OMIM:135900 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
Norrie Disease |
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Self-injurious behavior, Uterine rupture, Cryptorchidism, Irritability, Attention deficit hyperac... |
ORPHA:649 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Exstrophy-Epispadias Complex |
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Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... |
ORPHA:322 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Cryptorchidism, Motor stereotypy, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
OMIM:274000 |
Ehlers-Danlos Syndrome, Vascular Type |
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Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency |
OMIM:130050 |
Hydrolethalus Syndrome 1 |
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Bifid uterus, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Cryptorchidism |
OMIM:256520 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias |
OMIM:276820 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... |
OMIM:107480 |
Okamoto Syndrome |
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Bifid uterus |
ORPHA:2729 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
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Small scrotum, Inability to walk, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
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Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias |
ORPHA:286 |