{ "id": 19578, "label": "inherited primary ovarian failure", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019852", "properties": { "xrefs": [ "GARD:0019294", "MEDGEN:443920", "OMIMPS:311360", "Orphanet:95710", "UMLS:C2930861" ], "synonyms": [ "hereditary primary ovarian failure", "inherited POI", "inherited premature ovarian failure", "inherited primary ovarian insufficiency", "non-acquired premature ovarian failure" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome." }, "isLeaf": false, "isRoot": false, "child_count": 41, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 7067, "label": "primary ovarian failure", "isLeaf": false, "isRoot": false, "parents": [ 4064 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5426", "EFO:0004266", "ICD10CM:E28.3", "ICD9:253.4", "ICD9:256.39", "MEDGEN:38820", "MESH:D016649", "NANDO:2100139", "NCIT:C113352", "Orphanet:619", "SCTID:370999003", "SCTID:65846009", "UMLS:C0085215" ], "synonyms": [ "primary ovarian failure", "female hypergonadotropic hypogonadism", "hypergonadotrophic ovarian failure", "hypergonadotropic hypogonadism", "hypergonadotropic hypogonadism (female)", "premature menopause", "premature ovarian failure", "premature ovarian insufficiency", "primary female hypogonadism" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries." }, "child_count": 4, "reference_id": "MONDO:0005387" }, { "id": 16330, "label": "hereditary endocrine growth disease", "isLeaf": false, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020012", "MEDGEN:1842942", "MESH:D006130", "Orphanet:156643", "UMLS:C5680637" ], "synonyms": [ "genetic endocrine growth disease", "growth disorder" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 8, "reference_id": "MONDO:0015514" }, { "id": 20362, "label": "female infertility", "isLeaf": false, "isRoot": false, "parents": [ 4379, 6779 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0008560", "ICD10CM:N97", "ICD10WHO:N97", "ICD9:628.8", "ICD9:628.9", "MEDGEN:5795", "MESH:D007247", "SCTID:6738008", "UMLS:C0021361", "icd11.foundation:1237004558" ], "synonyms": [ "female infertility", "female reproductive system infertility", "female reproductive system infertility disorder", "infertility disorder of female reproductive system", "female sterility", "female sub-fertility", "female subfertility", "postpartum sterility", "sterility, female", "sterility, postpartum", "sub fertility, female", "sub-fertility, female", "subfertility, female" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Diminished or absent ability of a female to achieve conception." }, "child_count": 8, "reference_id": "MONDO:0021124" } ], "children": [ { "id": 8606, "label": "blepharophimosis, ptosis, and epicanthus inversus syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 9827, 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14778", "GARD:0000023", "MEDGEN:66312", "MESH:C562419", "NORD:862", "OMIM:110100", "Orphanet:126", "SCTID:715391004", "UMLS:C0220663" ], "synonyms": [ "BPES", "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome", "blepharophimosis types 1 and 2", "blepharophimosis, epicanthus inversus, and ptosis, type 1", "blepharophimosis, epicanthus inversus, and ptosis, type 2", "blepharophimosis, ptosis, and epicanthus inversus", "blepharophimosis, ptosis, and epicanthus inversus syndrome", "blepharophimosis, ptosis, epicanthus inversus syndrome", "blepharophimosis-epicanthus inversus-ptosis syndrome", "BPES type 1", "BPES with Duane retraction syndrome", "BPES with ovarian failure", "BPES with premature ovarian failure", "BPES without ovarian failure", "BPES, type 1", "BPES, type 2", "BPES, type I, autosomal recessive", "blepharophimosis syndrome type 1", "blepharophimosis, ptosis, and epicanthus inversus syndrome type 1", "blepharophimosis, ptosis, epicanthus inversus with ovarian failure" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)." }, "child_count": 15, "reference_id": "MONDO:0007201" }, { "id": 9998, "label": "congenital lipoid adrenal hyperplasia due to STAR deficency", "isLeaf": false, "isRoot": false, "parents": [ 18518, 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001465", "MEDGEN:83341", "OMIM:201710", "Orphanet:90790", "SCTID:44231009", "UMLS:C0342474" ], "synonyms": [ "CLAH", "lipoid adrenal hyperplasia", "LCAH", "adrenal hyperplasia 1", "congenital adrenal hyperplasia lipoid", "lipoid congenital adrenal hyperplasia", "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." }, "child_count": 4, "reference_id": "MONDO:0008725" }, { "id": 10107, "label": "ataxia telangiectasia", "isLeaf": false, "isRoot": false, "parents": [ 16075, 19578, 24046 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12704", "GARD:0005862", "ICD9:334.8", "MEDGEN:439", "MESH:D001260", "MedDRA:10003594", "NANDO:1200331", "NANDO:2200705", "NCIT:C2887", "NORD:816", "OMIM:208900", "Orphanet:100", "SCTID:68504005", "UMLS:C0004135" ], "synonyms": [ "Louis-Bar syndrome", "ataxia - telangiectasia", "ataxia telangiectasia", "ataxia telangiectasia syndrome", "AT", "AT, complementation group A", "AT, complementation group C", "AT, complementation group D", "AT, complementation group E", "AT1", "ataxia - telangiectasia variant", "ataxia-telangiectasia", "cerebello-oculocutaneous telangiectasia", "immunodeficiency with ataxia telangiectasia" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer." }, "child_count": 3, "reference_id": "MONDO:0008840" }, { "id": 10499, "label": "classic galactosemia", "isLeaf": true, "isRoot": false, "parents": [ 18269, 19578, 24856 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111459", "GARD:0013639", "MEDGEN:82777", "NANDO:1200851", "NANDO:2200532", "OMIM:230400", "Orphanet:79239", "SCTID:10899004", "UMLS:C0268151", "icd11.foundation:2011000259" ], "synonyms": [ "GALT deficiency", "classic galactosemia", "galactose-1-phosphate uridyltransferase deficiency", "galactosemia type 1", "classical galactosemia, homozygous duarte-type", "Galt deficiency", "galactose-1-phosphate uridylyltransferase deficiency", "galactosemia", "galactosemia, Duarte variant", "galactosemia, classic", "transferase deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." }, "child_count": 0, "reference_id": "MONDO:0009258" }, { "id": 10538, "label": "46 XX gonadal dysgenesis", "isLeaf": false, "isRoot": false, "parents": [ 4130, 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14450", "GARD:0005671", "MEDGEN:146899", "MESH:D023961", "NANDO:2200384", "NCIT:C120197", "OMIMPS:233300", "Orphanet:243", "SCTID:95198001", "UMLS:C0685837", "icd11.foundation:1742528605" ], "synonyms": [ "46,XX complete gonadal dysgenesis", "46,XX gonadal dysgenesis", "46,XX ovarian dysgenesis", "46,XX pure gonadal dysgenesis", "FSH-RO", "XX female gonadal dysgenesis", "XX-GD", "follicular stimulating hormone-resistant ovaries", "hypergonadotropic ovarian dysgenesis", "XX gonadal dysgenesis", "ovarian dysgenesis" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." }, "child_count": 22, "reference_id": "MONDO:0009299" }, { "id": 11517, "label": "premature ovarian failure 2A", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080858", "GARD:0024719", "MEDGEN:336902", "MESH:C564498", "OMIM:300511", "UMLS:C1845293" ], "synonyms": [ "DIAPH2 primary ovarian failure", "premature ovarian failure 2A", "premature ovarian failure 2A, X-linked dominant", "premature ovarian failure type 2A", "primary ovarian failure caused by mutation in DIAPH2", "POF2A" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene." }, "child_count": 0, "reference_id": "MONDO:0010350" }, { "id": 11537, "label": "premature ovarian failure 2B", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080859", "GARD:0024721", "MEDGEN:337159", "MESH:C564476", "OMIM:300604", "UMLS:C1845105" ], "synonyms": [ "POF1B primary ovarian failure", "premature ovarian failure 2B", "premature ovarian failure 2B, X-linked recessive", "premature ovarian failure type 2B", "primary ovarian failure caused by mutation in POF1B", "POF2B" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene." }, "child_count": 0, "reference_id": "MONDO:0010373" }, { "id": 11848, "label": "premature ovarian failure 1", "isLeaf": false, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080857", "GARD:0002811", "ICD9:256.39", "MEDGEN:1644269", "OMIM:311360", "Orphanet:642691", "UMLS:C4552079" ], "synonyms": [ "ovarian failure, premature", "FMR1 primary ovarian failure", "fragile x-associated primary ovarian insufficiency", "premature ovarian failure 1", "premature ovarian failure type 1", "primary ovarian failure caused by mutation in FMR1", "FMR1-related premature ovarian failure", "FMR1-related primary ovarian insufficiency", "Pof1", "familial premature ovarian failure", "fragile X-associated primary ovarian insufficiency", "hypergonadotropic ovarian failure, X-linked", "idiopathic familial premature ovarian failure", "premature ovarian failure, X-linked" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene." }, "child_count": 1, "reference_id": "MONDO:0010706" }, { "id": 12055, "label": "Satoyoshi syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6660, 6756, 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000160", "MEDGEN:318882", "MESH:C536616", "MedDRA:10070579", "OMIM:600705", "Orphanet:3130", "SCTID:763630007", "UMLS:C1833454" ], "synonyms": [ "Komuragaeri disease", "Satoyoshi syndrome", "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities", "muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities", "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system." }, "child_count": 0, "reference_id": "MONDO:0010922" }, { "id": 13232, "label": "premature ovarian failure 3", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080860", "GARD:0024851", "MEDGEN:373230", "MESH:C563816", "OMIM:608996", "UMLS:C1837008" ], "synonyms": [ "premature ovarian failure 3", "premature ovarian failure type 3", "Pof3" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012169" }, { "id": 13438, "label": "osteosclerosis-ichthyosis-premature ovarian failure syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009904", "MEDGEN:355875", "MESH:C536064", "OMIM:609993", "Orphanet:75325", "SCTID:722114007", "UMLS:C1864942" ], "synonyms": [ "sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome", "osteosclerosis with ichthyosis and POF", "osteosclerosis with ichthyosis and premature ovarian failure", "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals." }, "child_count": 0, "reference_id": "MONDO:0012387" }, { "id": 13729, "label": "premature ovarian failure 5", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080862", "GARD:0024882", "MEDGEN:409743", "MESH:C566921", "OMIM:611548", "UMLS:C1969060" ], "synonyms": [ "NOBOX primary ovarian failure", "premature ovarian failure 5", "premature ovarian failure type 5", "primary ovarian failure caused by mutation in NOBOX", "Pof5" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene." }, "child_count": 0, "reference_id": "MONDO:0012689" }, { "id": 13901, "label": "premature ovarian failure 6", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080863", "GARD:0024891", "MEDGEN:394115", "MESH:C567351", "OMIM:612310", "UMLS:C2676742" ], "synonyms": [ "FIGLA primary ovarian failure", "premature ovarian failure 6", "premature ovarian failure type 6", "primary ovarian failure caused by mutation in FIGLA", "Pof6" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene." }, "child_count": 0, "reference_id": "MONDO:0012861" }, { "id": 14103, "label": "premature ovarian failure 7", "isLeaf": true, "isRoot": false, "parents": [ 19578, 29369 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080864", "GARD:0024899", "MEDGEN:414115", "MESH:C567838", "OMIM:612964", "UMLS:C2751825" ], "synonyms": [ "adrenocortical insufficiency", "NR5A1 primary ovarian failure", "premature ovarian failure 7", "premature ovarian failure type 7", "primary ovarian failure caused by mutation in NR5A1", "Pof7", "adrenal insufficiency, Nr5A1-related" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene." }, "child_count": 0, "reference_id": "MONDO:0013065" }, { "id": 14336, "label": "aromatase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 19578, 21520 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000365", "MEDGEN:743307", "MESH:C537436", "NCIT:C120144", "OMIM:613546", "Orphanet:91", "UMLS:C1960539", "icd11.foundation:260189446" ], "synonyms": [ "aromatase deficiency", "congenital estrogen deficiency", "congenital oestrogen deficiency", "pseudohermaphroditism, female, due to placental aromatase deficiency" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." }, "child_count": 0, "reference_id": "MONDO:0013301" }, { "id": 15324, "label": "premature ovarian failure 8", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080865", "GARD:0024985", "MEDGEN:816697", "OMIM:615723", "UMLS:C3810367" ], "synonyms": [ "STAG3 primary ovarian failure", "premature ovarian failure 8", "premature ovarian failure type 8", "primary ovarian failure caused by mutation in STAG3", "POF8" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene." }, "child_count": 0, "reference_id": "MONDO:0014321" }, { "id": 15325, "label": "premature ovarian failure 9", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080866", "GARD:0024986", "MEDGEN:816706", "OMIM:615724", "UMLS:C3810376" ], "synonyms": [ "HFM1 primary ovarian failure", "premature ovarian failure 9", "premature ovarian failure type 9", "primary ovarian failure caused by mutation in HFM1", "Pof9" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene." }, "child_count": 0, "reference_id": "MONDO:0014322" }, { "id": 15519, "label": "46,XX ovarian dysgenesis-short stature syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080496", "GARD:0017760", "MEDGEN:863846", "OMIM:616185", "Orphanet:444048", "UMLS:C4015409" ], "synonyms": [ "ovarian dysgenesis type 4", "ODG4", "ovarian dysgenesis 4" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014520" }, { "id": 15827, "label": "premature ovarian failure 11", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080868", "DOID:0080869", "GARD:0025024", "MEDGEN:934750", "OMIM:616946", "UMLS:C4310783" ], "synonyms": [ "ERCC6 primary ovarian failure", "POF11", "premature ovarian failure 11", "premature ovarian failure 11; POF11", "premature ovarian failure type 11", "primary ovarian failure caused by mutation in ERCC6" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene." }, "child_count": 0, "reference_id": "MONDO:0014843" }, { "id": 15828, "label": "premature ovarian failure 12", "isLeaf": true, "isRoot": false, "parents": [ 19578, 29372 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025025", "MEDGEN:934749", "OMIM:616947", "UMLS:C4310782" ], "synonyms": [ "POF12", "SYCE1 primary ovarian failure", "premature ovarian failure 12", "premature ovarian failure 12; POF12", "premature ovarian failure type 12", "primary ovarian failure caused by mutation in SYCE1" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene." }, "child_count": 0, "reference_id": "MONDO:0014844" }, { "id": 17631, "label": "Perrault syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16918, 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050857", "GARD:0002542", "MEDGEN:151934", "NORD:2031", "OMIMPS:233400", "Orphanet:2855", "SCTID:93466004", "UMLS:C0685838", "icd11.foundation:256968598" ], "synonyms": [ "Perrault syndrome", "XX gonodal dysgenesis-deafness syndrome", "gonadal dysgenesis, XX type, with deafness" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit." }, "child_count": 21, "reference_id": "MONDO:0017312" }, { "id": 18229, "label": "trisomy X", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19578, 24425, 24461 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005672", "MEDGEN:113140", "MESH:C535318", "NCIT:C129718", "NORD:1798", "Orphanet:3375", "SCTID:35111009", "UMLS:C0221033", "icd11.foundation:423644907" ], "synonyms": [ "47,XXX", "47,XXX syndrome", "Triplo-X syndrome", "XXX syndrome", "triple X syndrome", "trisomy X", "trisomy type X", "47 XXX syndrome", "Triplo X syndrome", "triple-X chromosome syndrome", "triple-X female" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." }, "child_count": 0, "reference_id": "MONDO:0018066" }, { "id": 19317, "label": "Turner syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4130, 4370, 18156, 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3491", "GARD:0007831", "ICD10CM:Q96.0", "ICD10WHO:Q96", "ICD9:758.7", "MEDGEN:21734", "MESH:D014424", "MedDRA:10045181", "NANDO:2200410", "NCIT:C26900", "NORD:1806", "Orphanet:881", "SCTID:38804009", "UMLS:C0041408", "icd11.foundation:1987089698" ], "synonyms": [ "gonadal dysgenesis", "45,X gonadal dysgenesis", "45,X syndrome", "45,X/46,XX syndrome", "45,X0 syndrome", "45X syndrome", "karyotype 45, X", "monosomy X", "45, X syndrome", "Bonnevie-Ullrich syndrome", "Schereshevkii Turner syndrome", "Turner Varny syndrome", "Ullrich-Turner syndrome", "chromosome X monosomy X", "genital dwarfism", "genital dwarfism, Turner type", "gonadal dysgenesis (45,X)", "gonadal dysgenesis Turner type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome." }, "child_count": 12, "reference_id": "MONDO:0019499" }, { "id": 19335, "label": "tetrasomy X", "isLeaf": true, "isRoot": false, "parents": [ 19578, 21951, 24425 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007754", "ICD9:758.81", "MEDGEN:120544", "MESH:C536502", "Orphanet:9", "SCTID:10567003", "UMLS:C0265496", "icd11.foundation:1181464236" ], "synonyms": [ "48,XXXX syndrome", "quadruple X", "tetra X", "tetrasomy type X", "48 XXXX", "48 XXXX syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." }, "child_count": 0, "reference_id": "MONDO:0019525" }, { "id": 19646, "label": "X small rings", "isLeaf": true, "isRoot": false, "parents": [ 19578, 24425, 24487 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019345", "MEDGEN:1641475", "Orphanet:96201", "SCTID:766760004", "UMLS:C4707824" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures." }, "child_count": 0, "reference_id": "MONDO:0019926" }, { "id": 22084, "label": "premature ovarian failure 17", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080874", "GARD:0025647", "MEDGEN:1748767", "OMIM:619146", "UMLS:C5436889" ], "synonyms": [ "POF17", "premature ovarian failure 17" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030870" }, { "id": 22143, "label": "premature ovarian failure 18", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112269", "GARD:0025666", "MEDGEN:1785989", "OMIM:619203", "UMLS:C5543095" ], "synonyms": [ "POF18", "premature ovarian failure 18" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030939" }, { "id": 22162, "label": "premature ovarian failure 20", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025670", "MEDGEN:1808256", "OMIM:619938", "UMLS:C5677011" ], "synonyms": [ "POF20", "premature ovarian failure 20" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030975" }, { "id": 22171, "label": "premature ovarian failure 19", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112278", "GARD:0025673", "MEDGEN:1779702", "OMIM:619245", "UMLS:C5543229" ], "synonyms": [ "POF19", "premature ovarian failure 19" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030985" }, { "id": 22533, "label": "premature ovarian failure 16", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080873", "GARD:0018044", "MEDGEN:1684679", "OMIM:618723", "UMLS:C5231474" ], "synonyms": [ "POF16", "PREMATURE OVARIAN FAILURE 16" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032881" }, { "id": 23320, "label": "premature ovarian failure 13", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080870", "GARD:0025891", "MEDGEN:1393321", "OMIM:617442", "UMLS:C4479510" ], "synonyms": [ "premature ovarian failure 13", "POF13" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044317" }, { "id": 23432, "label": "premature ovarian failure 10", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080867", "GARD:0025908", "MEDGEN:898849", "OMIM:612885", "UMLS:C4225402" ], "synonyms": [ "premature ovarian failure 10", "Pof10", "menopause, natural, Age At, quantitative trait locus 3" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488)." }, "child_count": 0, "reference_id": "MONDO:0044776" }, { "id": 23433, "label": "premature ovarian failure 14", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080871", "GARD:0025909", "GTR:AN1172965", "MEDGEN:1646133", "OMIM:618014", "UMLS:C4693941" ], "synonyms": [ "premature ovarian failure 14", "GDF9-related primary ovarian insufficiency", "POF14" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044777" }, { "id": 23652, "label": "premature ovarian failure 15", "isLeaf": true, "isRoot": false, "parents": [ 5177, 19578 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080872", "GARD:0025989", "MEDGEN:1648369", "OMIM:618096", "UMLS:C4748170" ], "synonyms": [ "premature ovarian failure 15", "POF15" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0054862" }, { "id": 24918, "label": "premature ovarian failure 4", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026498", "MEDGEN:336904", "UMLS:C1845295" ], "synonyms": [ "POF4" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800317" }, { "id": 25609, "label": "premature ovarian failure 21", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026790", "MEDGEN:1841035", "OMIM:620311", "UMLS:C5830399" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957216" }, { "id": 25756, "label": "premature ovarian failure 22", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026881", "MEDGEN:1849005", "OMIM:620548", "UMLS:C5882707" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957822" }, { "id": 25806, "label": "premature ovarian failure 23", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026916", "MEDGEN:1845723", "OMIM:620686", "UMLS:C5882747" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0958035" }, { "id": 25994, "label": "premature ovarian failure 24", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027097", "MEDGEN:1858807", "OMIM:620840", "UMLS:C5935624" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0970995" }, { "id": 26133, "label": "premature ovarian failure 25", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027332", "MEDGEN:1875040", "OMIM:621002", "UMLS:C5975510" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975843" }, { "id": 26185, "label": "premature ovarian failure 26", "isLeaf": true, "isRoot": false, "parents": [ 19578 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027426", "MEDGEN:1875121", "OMIM:621065", "UMLS:C5975591" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976129" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 7067, "label": "primary ovarian failure" }, { "id": 16330, "label": "hereditary endocrine growth disease" }, { "id": 20362, "label": "female infertility" } ] }