{ "id": 19710, "label": "46,XY disorder of sex development", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0020040", "properties": { "xrefs": [ "GARD:0008538", "MEDGEN:414114", "MESH:D058490", "NANDO:2200393", "NCIT:C127171", "Orphanet:98085", "SCTID:8234004", "UMLS:C2751824" ], "synonyms": [ "46,XY DSD", "46,XY differences of Sex development", "46,XY disorders of Sex development", "46, XY DSD", "46, XY disorders of sexual development", "46, XY female", "XY female" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Differences of sex development in individuals with 46,XY karyotype." }, "isLeaf": false, "isRoot": false, "child_count": 24, "parents": [ { "id": 4277, "label": "disorder of sexual differentiation", "isLeaf": false, "isRoot": false, "parents": [ 4375, 19507 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1923", "GTR:AN1172969", "MEDGEN:415936", "MESH:D012734", "MedDRA:10070597", "NANDO:2100140", "NCIT:C103186", "Orphanet:90771", "SCTID:39179006", "UMLS:C2930619" ], "synonyms": [ "CARD", "DSD", "conditions affecting reproductive development", "differences of sex development", "disorder of sex development", "disorder of sex differentiation", "disorder of sexual differentiation", "disorders of sex development", "intersex", "intersex conditions", "sex differentiation disorder", "sexual differentiation disorder", "disorders of sex development (DSD)" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A congenital disorder characterized by abnormalities in the development of the sexual characteristics." }, "child_count": 14, "reference_id": "MONDO:0002145" } ], "children": [ { "id": 8999, "label": "Frasier syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050438", "GARD:0002375", "ICD9:759.89", "MEDGEN:215533", "MESH:D052159", "NCIT:C122805", "OMIM:136680", "Orphanet:347", "SCTID:445431000", "UMLS:C0950122", "icd11.foundation:1659542949" ], "synonyms": [ "Frasier syndrome", "Frasier syndrome, autosomal dominant, somatic mutation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma." }, "child_count": 0, "reference_id": "MONDO:0007635" }, { "id": 9956, "label": "WAGR syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16218, 17316, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:35", "DOID:14515", "GARD:0005528", "MEDGEN:64512", "MESH:D017624", "NCIT:C3718", "NORD:1833", "OMIM:194072", "Orphanet:893", "SCTID:715215007", "UMLS:C0206115", "icd11.foundation:1858307812" ], "synonyms": [ "11p partial monosomy syndrome", "Del(11)(p13)", "WAGR 11p13 deletion syndrome", "WAGR Syndrome/11p Deletion Syndrome", "WAGR syndrome", "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome", "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation", "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome", "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome", "chromosome 11p13 deletion syndrome", "deletion 11p13", "monosomy 11p13", "11p deletion", "11p deletion syndrome", "11p monosomy", "AGR triad", "WAGR", "WAGR Complex", "Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome", "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome", "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome", "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome", "Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome", "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome", "chromosome 11P13 deletion syndrome", "chromosome 11p deletion", "chromosome 11p deletion syndrome", "deletion 11p", "monosomy 11p", "partial monosomy 11p" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor." }, "child_count": 3, "reference_id": "MONDO:0008681" }, { "id": 9957, "label": "Denys-Drash syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3764", "GARD:0005576", "ICD9:189.0", "MEDGEN:181980", "MESH:D030321", "MedDRA:10070179", "NANDO:2200116", "NCIT:C84668", "NORD:1044", "OMIM:194080", "Orphanet:220", "SCTID:236385009", "UMLS:C0950121", "icd11.foundation:904981302" ], "synonyms": [ "Denys Drash syndrome", "Denys-Drash syndrome", "Denys-Drash syndrome, autosomal dominant, somatic mutation", "Drash syndrome", "Wilms tumor and pseudohermaphroditism", "Wilms tumour and pseudohermaphroditism", "nephrotic syndrome type 4", "DDS", "Wilms tumor and pseudo- or true hermaphroditism", "Wilms tumour and pseudo- or true hermaphroditism", "nephropathy associated with male pseudohermaphroditism and Wilms' tumor", "nephropathy associated with male pseudohermaphroditism and Wilms' tumour", "nephropathy, Wilms tumor, and genital anomalies", "pseudohermaphroditism, nephron disorder and Wilms' tumor", "pseudohermaphroditism, nephron disorder and Wilms' tumour" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma." }, "child_count": 0, "reference_id": "MONDO:0008682" }, { "id": 10004, "label": "familial adrenal hypoplasia with absent pituitary luteinizing hormone", "isLeaf": true, "isRoot": false, "parents": [ 16074, 16526, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016839", "MEDGEN:348510", "MESH:C565976", "OMIM:202150", "Orphanet:95700", "UMLS:C1859978" ], "synonyms": [ "familial adrenal hypoplasia with absent pituitary LH", "familial adrenal hypoplasia, miniature type", "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008731" }, { "id": 10014, "label": "PAGOD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003086", "MEDGEN:347985", "MESH:C537018", "OMIM:202660", "Orphanet:991", "SCTID:722132007", "UMLS:C1859967" ], "synonyms": [ "PAGOD syndrome", "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome", "Kennerknecht sorgo Oberhoffer syndrome", "agonadism with multiple internal malformations", "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." }, "child_count": 0, "reference_id": "MONDO:0008741" }, { "id": 10541, "label": "XY type gonadal dysgenesis-associated anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002541", "MEDGEN:344696", "MESH:C565536", "OMIM:233430", "Orphanet:1770", "UMLS:C1856272" ], "synonyms": [ "gonadal dysgenesis XY type associated anomalies", "gonadal dysgenesis, 10Y type, with associated anomalies", "gonadal dysgenesis, XY type, with associated anomalies" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009302" }, { "id": 11119, "label": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5714, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112248", "GARD:0005659", "MEDGEN:120626", "MESH:C537805", "MESH:C564868", "NANDO:2200390", "NCIT:C120203", "OMIM:264300", "Orphanet:752", "SCTID:50658006", "UMLS:C0268296", "icd11.foundation:887793448" ], "synonyms": [ "17 Beta HSD3 deficiency", "17 beta HSD3 deficiency", "17-beta-hydroxysteroid dehydrogenase 3 deficiency", "17-ketoreductase deficiency", "17-ketosteroidreductase deficiency", "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "17 alpha KSR deficiency", "17 alpha ketosteroid reductase deficiency of testis", "17 beta hydroxysteroid dehydrogenase III deficiency", "17-BETA hydroxysteroid dehydrogenase III deficiency", "17-Beta hydroxysteroid dehydrogenase 3 deficiency", "17-KSR deficiency", "17-beta hydroxysteroid dehydrogenase 3 deficiency", "17-ketosteroid reductase deficiency of testis", "Male pseudoherma-phroditism with gynecomastia", "neutral 17 beta hydroxysteroid oxidoreductase deficiency", "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency", "polycystic ovarian disease due to 17-ketosteroid reductase deficiency", "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency", "pseudohermaphroditism, Male, with gynecomastia" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." }, "child_count": 0, "reference_id": "MONDO:0009916" }, { "id": 11126, "label": "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4594, 16198, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005680", "MEDGEN:75667", "MESH:C535830", "MedDRA:10000029", "NANDO:2200389", "NCIT:C98699", "OMIM:264600", "Orphanet:753", "SCTID:57514000", "UMLS:C0268297", "icd11.foundation:1028755501" ], "synonyms": [ "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency", "46,XY DSD due to 5-alpha-reductase 2 deficiency", "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency", "5 Alpha steroid reductase 2 deficiency", "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency", "pseudovaginal perineoscrotal hypospadias", "steroid 5-alpha-reductase deficiency", "5-alpha reductase deficiency", "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency", "PPSH", "familial incomplete Male pseudohermaphroditism, type 2", "micropenis" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis." }, "child_count": 0, "reference_id": "MONDO:0009923" }, { "id": 11445, "label": "X-linked myotubular myopathy-abnormal genitalia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 11827, 17410, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017792", "MEDGEN:335354", "MESH:C564561", "OMIM:300219", "Orphanet:456328", "UMLS:C1846169" ], "synonyms": [ "Xq28 contiguous gene deletion syndrome", "myotubular myopathy with abnormal genital development" ], "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" } ], "definition": "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." }, "child_count": 0, "reference_id": "MONDO:0010271" }, { "id": 11676, "label": "alpha thalassemia-X-linked intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 17392, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110030", "GARD:0005864", "MEDGEN:337145", "MESH:C538258", "NANDO:1200665", "NANDO:2100223", "NANDO:2200839", "NCIT:C118631", "NORD:753", "OMIM:301040", "Orphanet:847", "SCTID:715342005", "UMLS:C1845055" ], "synonyms": [ "ATR, nondeletion type", "ATR-X syndrome", "Alpha Thalassemia X-linked Intellectual Disability Syndrome", "Alpha thalassemia X-linked intellectual disability syndrome", "Alpha thalassemia X-linked mental retardation syndrome", "Alpha thalassemia/intellectual disability syndrome X-linked", "Alpha thalassemia/mental retardation syndrome X-linked", "alpha thalassemia-X-linked intellectual disability syndrome", "alpha-thalassemia/intellectual disability syndrome nondeletion type", "alpha-thalassemia/mental retardation syndrome, X-linked dominant", "ALPHA-thalassemia/intellectual disability syndrome, X-linked", "ALPHA-thalassemia/mental retardation syndrome, X-linked", "ATR, Nondeletion type", "ATRX", "ATRX syndrome", "Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked", "Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked", "Alpha-thalassemia X-linked intellectual disability syndrome", "Alpha-thalassemia-X-linked intellectual disability syndrome", "Alpha-thalassemia/intellectual disability syndrome, Nondeletion type", "Alpha-thalassemia/mental retardation syndrome, Nondeletion type", "XLMR hypotonic face syndrome" ], "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": "X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal." }, "child_count": 0, "reference_id": "MONDO:0010519" }, { "id": 11950, "label": "chondrodysplasia-pseudohermaphroditism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060644", "GARD:0016565", "MEDGEN:333149", "MESH:C536123", "OMIM:600092", "Orphanet:1422", "SCTID:720851007", "UMLS:C1838654" ], "synonyms": [ "Nivelon-Nivelon-Mabille syndrome", "chondrodysplasia-disorder of sex development syndrome", "chondrodysplasia-pseudohermaphroditism syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0010814" }, { "id": 11960, "label": "disorder of sex development-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004550", "MEDGEN:325469", "MESH:C535693", "OMIM:600122", "Orphanet:2983", "SCTID:719450007", "UMLS:C1838611" ], "synonyms": [ "Verloes-Gillerot-Fryns syndrome", "pseudohermaphroditism-intellectual disability syndrome", "Male pseudohermaphroditism intellectual disability syndrome, Verloes type", "Verloes Gillerot Fryns syndrome", "Verloes syndrome", "disorder of sex development intellectual disability", "male pseudohermaphroditism/intellectual disability syndrome, Verloes type", "male pseudohermaphroditism/mental retardation syndrome, Verloes type" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A rare syndrome with 46,XY disorder of sex development characterized 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." }, "child_count": 0, "reference_id": "MONDO:0010824" }, { "id": 12851, "label": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 11904, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0051055", "GARD:0017034", "MEDGEN:1727162", "MESH:C567773", "OMIM:607080", "Orphanet:168563", "UMLS:C5436061" ], "synonyms": [ "46XY gonadal dysgenesis with minifascicular neuropathy", "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011766" }, { "id": 13190, "label": "sudden infant death-dysgenesis of the testes syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6815, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012382", "MEDGEN:332428", "MESH:C563856", "OMIM:608800", "Orphanet:168593", "UMLS:C1837371" ], "synonyms": [ "SIDDT", "sudden infant death - dysgenesis of the testes", "sudden infant death with dysgenesis of the testes syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." }, "child_count": 0, "reference_id": "MONDO:0012124" }, { "id": 13227, "label": "Meacham syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003432", "MEDGEN:373234", "MESH:C538162", "OMIM:608978", "Orphanet:3097", "SCTID:722461004", "UMLS:C1837026", "icd11.foundation:1307620543" ], "synonyms": [ "Meacham syndrome", "Meacham-Winn-Culler syndrome", "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome", "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype", "Meacham Winn Culler syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." }, "child_count": 0, "reference_id": "MONDO:0012164" }, { "id": 14432, "label": "Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7151, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050546", "GARD:0017033", "MEDGEN:462405", "MESH:C566130", "NCIT:C131422", "OMIM:613743", "Orphanet:168558", "UMLS:C3151055" ], "synonyms": [ "XY sex reversal-adrenal failure", "XY sex reversal-adrenal failure syndrome", "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete", "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete", "cholesterol side-chain cleavage deficiency", "p450scc deficiency", "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency", "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "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." }, "child_count": 0, "reference_id": "MONDO:0013400" }, { "id": 16399, "label": "distal monosomy 9p", "isLeaf": true, "isRoot": false, "parents": [ 9339, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018732", "MEDGEN:539240", "MESH:C538025", "Orphanet:1642", "SCTID:763530000", "UMLS:C0265425" ], "synonyms": [ "distal deletion 9p", "distal monosomy type 9p", "monosomy 9pter", "telomeric deletion 9p" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma." }, "child_count": 0, "reference_id": "MONDO:0015605" }, { "id": 16947, "label": "dysmorphism-short stature-deafness-disorder of sex development syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018764", "MEDGEN:1383129", "Orphanet:2282", "UMLS:C4518561" ], "synonyms": [ "Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "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." }, "child_count": 0, "reference_id": "MONDO:0016433" }, { "id": 17141, "label": "46,XY partial gonadal dysgenesis", "isLeaf": false, "isRoot": false, "parents": [ 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017211", "MEDGEN:1388250", "Orphanet:251510", "SCTID:725045004", "UMLS:C4510744" ], "synonyms": [ "46,XY PGD", "46,XY partial testicular dysgenesis" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." }, "child_count": 7, "reference_id": "MONDO:0016674" }, { "id": 18152, "label": "testicular agenesis", "isLeaf": true, "isRoot": false, "parents": [ 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005819", "MEDGEN:98344", "Orphanet:325124", "SCTID:371015003", "UMLS:C0405582", "icd11.foundation:1382370664" ], "synonyms": [ "bilateral anorchia", "absence of testes", "anorchia", "congenital absence of testes", "empty scrotum" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017967" }, { "id": 18153, "label": "46,XY ovotesticular disorder of sex development", "isLeaf": true, "isRoot": false, "parents": [ 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021469", "MEDGEN:394582", "Orphanet:325345", "SCTID:763683004", "UMLS:C2697358" ], "synonyms": [ "46,XY ovotesticular DSD" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "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." }, "child_count": 0, "reference_id": "MONDO:0017968" }, { "id": 18782, "label": "penile agenesis", "isLeaf": true, "isRoot": false, "parents": [ 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004272", "MEDGEN:278031", "MESH:C536649", "NCIT:C99009", "Orphanet:49", "SCTID:59981001", "UMLS:C1387005" ], "synonyms": [ "Aphallia", "Aphallus", "congenital absence of penis", "penis agenesis", "agenesis of the penis", "micropenis", "penis agenesia" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities." }, "child_count": 0, "reference_id": "MONDO:0018846" }, { "id": 19031, "label": "androgen insensitivity syndrome", "isLeaf": false, "isRoot": false, "parents": [ 5714, 19710 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4674", "GARD:0005803", "ICD10CM:E34.5", "ICD9:259.5", "ICD9:259.51", "ICD9:259.8", "MEDGEN:21102", "MESH:D013734", "MedDRA:10056292", "NANDO:2200391", "NCIT:C27226", "OMIM:300068", "Orphanet:754", "SCTID:12313004", "UMLS:C0039585" ], "synonyms": [ "AIS", "Goldberg-Maxwell syndrome", "Morris syndrome", "androgen insensitivity syndrome", "androgen insensitivity, X-linked recessive", "androgen resistance syndrome", "testicular feminization syndrome", "AR deficiency", "DHTR deficiency", "Feminisation - testicular", "androgen receptor deficiency", "dihydrotestosterone receptor deficiency", "testicular feminization syndrome (formerly)" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS)." }, "child_count": 4, "reference_id": "MONDO:0019154" }, { "id": 23131, "label": "male pseudohermaphroditism due to defective lh molecule", "isLeaf": true, "isRoot": false, "parents": [ 19710 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003356", "HGNC:6584", "MEDGEN:372012", "MESH:C535692", "UMLS:C1835303" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0043120" } ], "roots": [ { "id": 4277, "label": "disorder of sexual differentiation" } ] }