{ "id": 6772, "label": "reproductive system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005039", "properties": { "xrefs": [ "DOID:15", "EFO:0000512", "MEDGEN:61253", "NCIT:C4875", "SCTID:362968007", "UMLS:C0178829", "Wikipedia:Reproductive_system_disease" ], "synonyms": [ "disease of reproductive system", "disease or disorder of reproductive system", "disorder of reproductive system", "genital disorders", "reproductive disease", "reproductive system disease", "reproductive system disease or disorder", "reproductive system disorder" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A disease involving the reproductive system." }, "isLeaf": false, "isRoot": false, "child_count": 30, "parents": [ { "id": 29379, "label": "disease by body system or component", "isLeaf": false, "isRoot": false, "parents": [ 24492 ], "type_id": 0, "properties": { "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected." }, "child_count": 19, "reference_id": "MONDO:7770006" } ], "children": [ { "id": 2719, "label": "pelvic organ prolapse", "isLeaf": true, "isRoot": false, "parents": [ 6772 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0004710", "MEDGEN:209090", "MESH:D056887", "SCTID:237113009", "UMLS:C0877015", "icd11.foundation:148580117" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence." }, "child_count": 0, "reference_id": "MONDO:0000082" }, { "id": 2765, "label": "cortisone reductase deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4594, 6772, 16604 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090139", "GARD:0009882", "ICD9:277.6", "MEDGEN:266223", "MESH:C536447", "OMIMPS:604931", "Orphanet:168588", "SCTID:124138004", "UMLS:C1291245" ], "synonyms": [ "11-beta-hydroxysteroid dehydrogenase deficiency type 1", "deficiency of (R)-20-hydroxysteroid dehydrogenase", "deficiency of cortisone reductase", "hyperandrogenism due to cortisone reductase deficiency", "HSD 11B1 deficiency", "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." }, "child_count": 6, "reference_id": "MONDO:0000193" }, { "id": 4267, "label": "physiological sexual disorder", "isLeaf": false, "isRoot": false, "parents": [ 6772 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1876", "MEDGEN:66756", "MESH:D012735", "UMLS:C0237873" ], "synonyms": [ "Sex disorders", "sexual dysfunction", "physiological sexual disorder", "physiological sexual dysfunction", "physiological sexual disorders", "physiological sexual dysfunctions", "sexual disorder, physiological", "sexual disorders, physiological", "sexual dysfunctions, physiological" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Physiological disturbances in normal sexual performance in either the male or the female." }, "child_count": 1, "reference_id": "MONDO:0002134" }, { "id": 4375, "label": "gonadal disorder", "isLeaf": false, "isRoot": false, "parents": [ 6772, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2277", "MEDGEN:9074", "MESH:D006058", "NCIT:C26786", "UMLS:C0018050" ], "synonyms": [ "disease of gonad", "disease or disorder of gonad", "disorder of gonad", "disorder of gonads", "gonad disease", "gonad disease or disorder", "gonadal disorder", "gonadal disorders" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the testis or the ovary." }, "child_count": 12, "reference_id": "MONDO:0002259" }, { "id": 4379, "label": "female reproductive system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6772 ], "type_id": 0, "properties": { "xrefs": [ "DOID:229", "EFO:0009549", "ICD9:629.9", "MEDGEN:65928", "MESH:D005831", "NCIT:C27020", "SCTID:310789003", "UMLS:C0236100" ], "synonyms": [ "disease of female reproductive system", "disease or disorder of female reproductive system", "disorder of female genital system", "disorder of female reproductive system", "female reproductive disease", "female reproductive system disease", "female reproductive system disease or disorder", "female reproductive system disorder", "disease of female genital system", "disorder of female genital tract", "gynaecological disease", "gynecological disease" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A disease involving the female reproductive system." }, "child_count": 34, "reference_id": "MONDO:0002263" }, { "id": 5121, "label": "male reproductive system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6772 ], "type_id": 0, "properties": { "xrefs": [ "DOID:48", "EFO:0009555", "ICD10CM:N40-N53", "ICD10WHO:N40-N51", "ICD9:600-608", "ICD9:608.9", "MEDGEN:66734", "MESH:D005832", "NCIT:C27019", "SCTID:363194005", "UMLS:C0236099" ], "synonyms": [ "Male reproductive system disease", "Male reproductive system disorder", "disease of male reproductive system", "disease or disorder of male reproductive system", "disorder of Male reproductive system", "disorder of male reproductive system", "male reproductive disease", "male reproductive system disease", "male reproductive system disease or disorder" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A disease involving the male reproductive system." }, "child_count": 26, "reference_id": "MONDO:0003150" }, { "id": 5314, "label": "pituitary gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6772, 6875, 7209 ], "type_id": 0, "properties": { "xrefs": [ "DOID:53", "EFO:0009607", "ICD9:253.1", "ICD9:253.8", "ICD9:253.9", "MEDGEN:45934", "MESH:D010900", "NCIT:C26854", "SCTID:399244003", "UMLS:C0032002" ], "synonyms": [ "disease of pituitary gland", "disease or disorder of pituitary gland", "disorder of pituitary gland", "pituitary gland disease", "pituitary gland disease or disorder", "pituitary gland disorder" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the pituitary gland." }, "child_count": 27, "reference_id": "MONDO:0003381" }, { "id": 6779, "label": "infertility disorder", "isLeaf": false, "isRoot": false, "parents": [ 6772 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5223", "EFO:0000545", "MEDGEN:43876", "MESH:D007246", "NCIT:C3836", "UMLS:C0021359" ], "synonyms": [ "Sterile", "fertility disorders", "infertile", "sterile", "sterility", "infertility" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues." }, "child_count": 5, "reference_id": "MONDO:0005047" }, { "id": 7030, "label": "hypospadias", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6772, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10892", "EFO:0004209", "HP:0000047", "ICD10CM:Q54", "ICD9:752.61", "MEDGEN:163083", "MESH:D007021", "NCIT:C40341", "OMIMPS:300633", "Orphanet:440", "SCTID:416010008", "UMLS:C0848558", "icd11.foundation:810247271" ], "synonyms": [ "hypospadias", "hypospadias (disease)", "hypospadias familial" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce." }, "child_count": 15, "reference_id": "MONDO:0005345" }, { "id": 7638, "label": "reproductive system neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6772, 6798 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000051", "MEDGEN:64246", "NCIT:C3674", "UMLS:C0178830" ], "synonyms": [ "neoplasm of reproductive system", "neoplasm of the reproductive system", "reproductive neoplasm", "reproductive system neoplasm", "reproductive system neoplasm (disease)", "reproductive system tumor", "reproductive system tumour", "reproductive tumor", "reproductive tumour", "tumor of reproductive system", "tumor of the reproductive system", "tumour of reproductive system", "tumour of the reproductive system" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system." }, "child_count": 18, "reference_id": "MONDO:0006054" }, { "id": 8193, "label": "dysplasia of cervix", "isLeaf": false, "isRoot": false, "parents": [ 6772 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000910", "ICD9:622.1", "ICD9:622.10", "ICD9:622.11", "MEDGEN:2971", "MESH:D002578", "MedDRA:10013957", "SCTID:73391008", "UMLS:C0007868" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane." }, "child_count": 1, "reference_id": "MONDO:0006736" }, { "id": 8212, "label": "female genital tuberculosis", "isLeaf": true, "isRoot": false, "parents": [ 6772 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000935", "MEDGEN:21724", "MESH:D014384", "MedDRA:10061150", "SCTID:74181004", "UMLS:C0041311" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Mycobacterium infections of the female reproductive tract (genitalia, female)." }, "child_count": 0, "reference_id": "MONDO:0006758" }, { "id": 8226, "label": "habitual spontaneous abortion", "isLeaf": true, "isRoot": false, "parents": [ 6772 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000954", "MEDGEN:1259", "MESH:D000026", "MedDRA:10062935", "SCTID:102878001", "UMLS:C0000809" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Three or more consecutive spontaneous abortions." }, "child_count": 0, "reference_id": "MONDO:0006774" }, { "id": 9046, "label": "aromatase excess syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6772, 18954 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090122", "GARD:0012494", "ICD9:259.8", "MEDGEN:409989", "MESH:C000591739", "OMIM:139300", "Orphanet:178345", "SCTID:709075008", "UMLS:C1970109", "icd11.foundation:191989744" ], "synonyms": [ "AEXS", "aromatase excess syndrome", "familial hyperestrogenism", "gynecomastia, familial, due to increased aromatase activity", "gynecomastia, hereditary", "hereditary prepubertal gynecomastia", "aromatase activity, increased" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all." }, "child_count": 0, "reference_id": "MONDO:0007690" }, { "id": 9053, "label": "hand-foot-genital syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 6772, 16089, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060739", "GARD:0002594", "ICD9:759.89", "MEDGEN:331103", "MESH:C535627", "MedDRA:10072361", "OMIM:140000", "Orphanet:2438", "SCTID:702425002", "UMLS:C1841679" ], "synonyms": [ "HFGS", "hand-foot-genital syndrome", "hand-foot-uterus syndrome", "HFG", "HFG syndrome", "HFU syndrome", "hand foot genital syndrome", "hand foot uterus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." }, "child_count": 0, "reference_id": "MONDO:0007698" }, { "id": 9140, "label": "mullerian duct anomalies-limb anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002908", "MEDGEN:327078", "MESH:C537155", "OMIM:146160", "Orphanet:2491", "UMLS:C1840335" ], "synonyms": [ "Müllerian duct anomalies-limb anomalies syndrome", "hypomelia mullerian duct anomalies", "hypomelia with mullerian duct anomalies", "limb uterus syndrome", "limb-uterus syndrome", "severe upper limb hypoplasia and Mullerian duct anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007795" }, { "id": 9611, "label": "Currarino triad", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 18360, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111546", "GARD:0001626", "ICD9:759.89", "MEDGEN:323460", "MESH:C536221", "OMIM:176450", "Orphanet:1552", "SCTID:413936007", "UMLS:C1531773", "icd11.foundation:1532133816" ], "synonyms": [ "Currarino syndrome", "Currarino triad", "CURRARINO syndrome", "Scra1", "partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation", "sacral agenesis syndrome", "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)." }, "child_count": 0, "reference_id": "MONDO:0008305" }, { "id": 9918, "label": "double uterus-hemivagina-renal agenesis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001910", "MEDGEN:348132", "MESH:C566010", "OMIM:192050", "Orphanet:3411", "SCTID:722431007", "UMLS:C1860549" ], "synonyms": [ "Double uterus and obstructed hemivagina syndrome", "Herlyn-Werner syndrome", "OHVIRA syndrome", "Wunderlich syndrome", "obstructed hemivagina and ipsilateral renal anomaly", "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present." }, "child_count": 0, "reference_id": "MONDO:0008636" }, { "id": 10000, "label": "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6772, 18518 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009152", "MEDGEN:452446", "MESH:C538236", "NANDO:1200398", "NANDO:2200371", "NCIT:C131088", "OMIM:201810", "Orphanet:90791", "SCTID:54470008", "UMLS:C0342471", "icd11.foundation:929626064" ], "synonyms": [ "3-beta HSD deficiency", "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency", "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF", "3-Beta-HSD deficiency", "3-Beta-hydroxysteroid dehydrogenase deficiency", "3b-hydroxysteroid dehydrogenase deficiency", "HSD3B deficiency", "adrenal hyperplasia 2", "adrenal hyperplasia II", "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency", "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency", "type II 3-beta-hydroxysteroid dehydrogenase deficiency" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." }, "child_count": 0, "reference_id": "MONDO:0008727" }, { "id": 10001, "label": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "isLeaf": false, "isRoot": false, "parents": [ 6772, 18518 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012665", "MEDGEN:903755", "MESH:C535979", "NANDO:1200399", "NANDO:2200374", "NCIT:C131087", "OMIM:201910", "Orphanet:90794", "SCTID:124221007", "SCTID:717261006", "UMLS:C4273964" ], "synonyms": [ "21-OHD", "classic 21-OHD CAH", "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "21 hydroxylase deficiency", "21-hydroxylase deficiency", "CYP21 deficiency", "adrenal hyperplasia 3", "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency", "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency", "congenital adrenal hyperplasia 1", "congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." }, "child_count": 4, "reference_id": "MONDO:0008728" }, { "id": 10002, "label": "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6772, 18518 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005658", "ICD9:277.6", "MEDGEN:82783", "MESH:C535978", "MedDRA:10000002", "NANDO:1200400", "NANDO:2200372", "NCIT:C131085", "OMIM:202010", "Orphanet:90795", "SCTID:124214007", "UMLS:C0268292", "icd11.foundation:791376680" ], "synonyms": [ "CAH due to 11-beta-hydroxylase deficiency", "CYP11B1 deficiency", "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency", "11-Beta-Hydroxylase deficiency", "P450C11B1 deficiency", "adrenal hyperplasia 4", "adrenal hyperplasia IV", "adrenal hyperplasia hypertensive form", "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency", "adrenal hyperplasia, hypertensive form", "steroid 11-Beta-Hydroxylase deficiency" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." }, "child_count": 0, "reference_id": "MONDO:0008729" }, { "id": 10003, "label": "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6772, 18518 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001469", "ICD9:277.6", "MEDGEN:82782", "NANDO:1200401", "NANDO:2200373", "OMIM:202110", "Orphanet:90793", "SCTID:124220008", "UMLS:C0268285", "icd11.foundation:587903316" ], "synonyms": [ "17-alpha-hydroxylase/17,20-lyase deficiency", "CAH due to 17-alpha-hydroxylase deficiency", "combined 17-hydroxylase/17,20-lyase deficiency", "17,20-lyase deficiency, isolated", "17-Alpha-Hydroxylase deficiency", "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete", "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial", "adrenal hyperplasia 5", "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency", "congenital adrenal hyperplasia type 5" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." }, "child_count": 0, "reference_id": "MONDO:0008730" }, { "id": 11258, "label": "spondylocostal dysostosis-anal and genitourinary malformations syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6772, 18362 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024705", "MEDGEN:341373", "MESH:C564799", "OMIM:271520", "Orphanet:94095", "UMLS:C1849069" ], "synonyms": [ "Casamassima-Morton-Nance syndrome", "CMn syndrome", "spondylocostal dysostosis with anal atresia and urogenital anomalies", "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010069" }, { "id": 14345, "label": "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 6772, 18518 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080925", "GARD:0012664", "MEDGEN:348008", "NANDO:1200402", "NANDO:2200375", "NCIT:C174439", "OMIM:613571", "Orphanet:95699", "SCTID:715733000", "UMLS:C1860042", "icd11.foundation:497412536" ], "synonyms": [ "POR deficiency", "PORD", "congenital adrenal hyperplasia due to cytochrome POR deficiency", "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency", "disordered steroidogenesis due to POR deficiency", "disordered steroidogenesis due to cytochrome P450 oxidoreductase", "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." }, "child_count": 0, "reference_id": "MONDO:0013310" }, { "id": 14743, "label": "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 6875, 19709, 24672, 24677 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060797", "GARD:0018624", "MEDGEN:482274", "MESH:C535353", "OMIM:213002", "OMIM:614381", "Orphanet:85186", "UMLS:C3280644" ], "synonyms": [ "HLD8", "POLR3B leukodystrophy", "endosteal sclerosis-cerebellar hypoplasia syndrome", "leukodystrophy caused by mutation in POLR3B", "cerebellar hypoplasia with endosteal sclerosis", "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." }, "child_count": 0, "reference_id": "MONDO:0013722" }, { "id": 15155, "label": "estrogen resistance syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6772, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016548", "MEDGEN:815580", "OMIM:615363", "Orphanet:785", "SCTID:724555000", "UMLS:C3809250", "icd11.foundation:1267163286" ], "synonyms": [ "ESTRR", "estrogen insensitivity", "estrogen resistance", "oestrogen insensitivity", "oestrogen resistance" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present." }, "child_count": 0, "reference_id": "MONDO:0014148" }, { "id": 15681, "label": "short stature, microcephaly, and endocrine dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6772, 6875, 24802 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018483", "MEDGEN:895448", "OMIM:616541", "UMLS:C4225288" ], "synonyms": [ "short stature, microcephaly, and endocrine dysfunction", "SSMED" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014686" }, { "id": 16654, "label": "diethylstilbestrol syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6772, 17143 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:799290", "MedDRA:10012780", "NCIT:C113422", "Orphanet:1916", "SCTID:716005004", "UMLS:C0853695", "icd11.foundation:1134098724" ], "synonyms": [ "DES embryofetopathy", "DES syndrome", "Distilbene embryofetopathy", "diethylstilbestrol embryofetopathy", "antenatal diethylstilbestrol exposure", "fetal diethylstilbestrol syndrome", "foetal diethylstilbestrol syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage." }, "child_count": 0, "reference_id": "MONDO:0016012" }, { "id": 20726, "label": "sexually transmitted disease", "isLeaf": false, "isRoot": false, "parents": [ 6772, 7200 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:A50-A64", "ICD9:099.8", "ICD9:099.9", "MEDGEN:11402", "MESH:D012749", "NCIT:C3365", "SCTID:8098009", "UMLS:C0036916" ], "synonyms": [ "STD", "VD", "VD, venereal disease", "disease (VD), venereal", "sexually Transmitted disorder", "sexually transmitted disease", "venereal disease (VD)", "STDs", "STI", "STIs", "Transmitted infection, sexually", "Transmitted infections, sexually", "disease, sexually Transmitted", "disease, venereal", "diseases, sexually Transmitted", "diseases, venereal", "infection, sexually Transmitted", "infections, sexually Transmitted", "sexually Transmitted infection", "sexually Transmitted infections", "venereal disease", "venereal diseases" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A Disease due to or propagated by sexual contact." }, "child_count": 6, "reference_id": "MONDO:0021681" }, { "id": 29369, "label": "NR5A1-related sex development disorder", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6772 ], "type_id": 0, "properties": { "synonyms": [ "NR5A1-related sex development disorder" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female." }, "child_count": 8, "reference_id": "MONDO:1060211" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }