Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Persistent urogenital sinus |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Chlamydia trachomatis infection of genital structure (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Pelvic peritonitis following molar AND/OR ectopic pregnancy |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Fallopian tube infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Blister of vagina with infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Penile verrucous carcinoma of Buschke-Löwenstein (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Genital tract infection in puerperium (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Candidiasis of vulva |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Infected hydrocele |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Chronic parametritis and pelvic cellulitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Illegal abortion with parametritis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Blister of testis with infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Infectious pustular vulvovaginitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Bacterial genital infection |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Salpingo-oophoritis following molar AND/OR ectopic pregnancy |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Female genital tract infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Illegal abortion complicated by genital-pelvic infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Infection of penis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Infection and fibrosis of spermatic cord remnant (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Infective epididymo-orchitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Infection of testis and epididymis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Induced termination of pregnancy complicated by genital-pelvic infection (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Legal abortion complicated by genital-pelvic infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Genital warts |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Infection of ovary |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Infection of uterus (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Parametritis following molar AND/OR ectopic pregnancy |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Trichomonal cervicitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Genital tract AND/OR pelvic infection following molar AND/OR ectopic pregnancy |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Vulval verrucous carcinoma of Buschke-Löwenstein (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Female genital infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Cavernitis of penis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Blister of penis with infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Pelvic inflammation with female sterility caused by Chlamydia trachomatis (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Penile cellulitis/abscess/boil |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Male genital infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Postpartum infection of vulva (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Anogenital verrucous carcinoma of Buschke-Löwenstein (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Blister of vulva with infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Male accessory gland infection |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Chlamydial epididymo-orchitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Genital tract infection due to incomplete induced termination of pregnancy (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Infection of spermatic cord |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Genital infection |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Mumps epididymo-orchitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Infective vulvitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Tuberculous epididymo-orchitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
4 |
Female genital tract infection due to complete miscarriage (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Gonococcal lymphangitis of penis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
maladie inflammatoire pelvienne à Chlamydia trachomatis causant la stérilité féminine |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Granuloma gluteale infantum |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Candidiasis of vagina (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Nodular candidiasis of diaper area |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Recurrent candidiasis of vagina |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Penile candidiasis (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Candida infection of genital region (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Uterine candidiasis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
4 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
5 |
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
chirurgie de confirmation du genre |
Procedure site - Direct (attribute) |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
8 |
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
4 |
Lesion of genitalia |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
2 |
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Herpetic vulvovaginitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Genital herpes simplex |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Herpetic ulceration of vulva (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Herpetic cervicitis |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
2 |
Herpetic vesicle in vagina |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Primary herpetic vulvovaginitis (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Recurrent genital herpes simplex (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Recurrent herpetic vulvovaginitis (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Genital herpes simplex type 2 (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Herpes simplex of female genitalia (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Recurrent genital Herpes simplex type 1 infection (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Recurrent genital Herpes simplex type 2 infection (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Genital Herpes simplex type 1 infection (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Genital herpes simplex in mother complicating pregnancy |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Genital herpes simplex in mother complicating childbirth |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Candidiasis of vagina in pregnancy (disorder) |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
3 |
Pseudovaginal perineoscrotal hypospadias |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
4 |
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated. |
Finding site |
False |
Genital structure |
Inferred relationship |
Some |
1 |
Primary herpes simplex infection of genitalia (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Genital mycoplasma infection |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Genital tuberculosis |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
2 |
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
4 |
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
2 |
A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |
Pathogen-negative nonspecific genital infection |
Finding site |
True |
Genital structure |
Inferred relationship |
Some |
1 |