{ "id": 6875, "label": "endocrine system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005151", "properties": { "xrefs": [ "DOID:28", "EFO:0001379", "ICD9:259.8", "ICD9:259.9", "MEDGEN:4043", "MESH:D004700", "NANDO:1100009", "NANDO:2100109", "NCIT:C3009", "SCTID:362969004", "UMLS:C0014130" ], "synonyms": [ "disease of endocrine system", "disease or disorder of endocrine system", "disorder of endocrine system", "endocrine disease", "endocrine disorder", "endocrine system disease", "endocrine system disease or disorder", "endocrine system disorder", "endocrinopathy", "thyroid or other glandular disorders" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the endocrine system." }, "isLeaf": false, "isRoot": false, "child_count": 48, "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": 2997, "label": "autoimmune disorder of endocrine system", "isLeaf": false, "isRoot": false, "parents": [ 6875, 8586 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060005", "ICD9:279.49", "MEDGEN:575099", "SCTID:237822008", "UMLS:C0342552" ], "synonyms": [ "endocrine system autoimmune disease", "endocrine system hypersensitivity reaction type II disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A hypersensitivity reaction type II disease that involves the endocrine system." }, "child_count": 26, "reference_id": "MONDO:0000569" }, { "id": 3463, "label": "parathyroid gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11201", "EFO:0005754", "ICD9:252", "ICD9:252.8", "ICD9:252.9", "MEDGEN:893009", "MESH:D010279", "NCIT:C26844", "SCTID:73132005", "UMLS:C4025822", "icd11.foundation:962023213" ], "synonyms": [ "disease of parathyroid gland", "disease or disorder of parathyroid gland", "disorder of parathyroid gland", "parathyroid disease", "parathyroid gland disease", "parathyroid gland disease or disorder", "parathyroid gland diseases", "parathyroid gland disorder", "parathyroid gland disorders" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the parathyroid gland." }, "child_count": 4, "reference_id": "MONDO:0001223" }, { "id": 4223, "label": "endocrine gland neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6798, 6875 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003769", "ICD9:239.7", "MEDGEN:4044", "NCIT:C3010", "SCTID:387922007", "UMLS:C0014132" ], "synonyms": [ "endocrine gland neoplasm (disease)", "endocrine gland tumor", "endocrine gland tumour", "endocrine neoplasm", "endocrine system neoplasm", "endocrine system tumor", "endocrine system tumour", "endocrine tumor", "endocrine tumour", "neoplasm of endocrine gland", "tumor of endocrine gland", "tumour of endocrine gland", "malignant endocrine tumor", "malignant endocrine tumour" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma." }, "child_count": 28, "reference_id": "MONDO:0002082" }, { "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": 4455, "label": "pancreas disorder", "isLeaf": false, "isRoot": false, "parents": [ 6151, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:26", "EFO:0009605", "ICD10CM:K86.9", "ICD9:577.8", "ICD9:577.9", "MEDGEN:14583", "MESH:D010182", "NCIT:C26842", "SCTID:3855007", "UMLS:C0030286", "icd11.foundation:1726554290" ], "synonyms": [ "disease of pancreas", "disease or disorder of pancreas", "disorder of pancreas", "pancreas disease", "pancreas disease or disorder", "pancreatic disorder", "disease, pancreatic", "diseases, pancreatic", "pancreatic disease" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms." }, "child_count": 28, "reference_id": "MONDO:0002356" }, { "id": 5187, "label": "thyroid gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:50", "EFO:1000627", "ICD10CM:E00-E07", "ICD9:240-246", "ICD9:246.8", "ICD9:246.9", "MEDGEN:1378579", "MESH:D013959", "NCIT:C26893", "SCTID:14304000", "UMLS:C4317107", "Wikipedia:Thyroid_disease" ], "synonyms": [ "disease of thyroid gland", "disease or disorder of thyroid gland", "disorder of thyroid gland", "thyroid disease", "thyroid gland disease", "thyroid gland disease or disorder", "thyroid gland diseases", "thyroid gland disorder", "thyroid gland disorders" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the thyroid gland." }, "child_count": 12, "reference_id": "MONDO:0003240" }, { "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": 5325, "label": "thymus gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778, 6875, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:533", "GARD:0023497", "ICD9:254", "ICD9:254.9", "MEDGEN:57585", "NCIT:C26962", "SCTID:20673009", "UMLS:C0154199" ], "synonyms": [ "Thymus disorder", "disease of thymus", "disease or disorder of thymus", "disorder of thymus", "disorder of thymus gland", "thymus disease", "thymus disease or disorder", "thymus disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma." }, "child_count": 9, "reference_id": "MONDO:0003393" }, { "id": 6878, "label": "liver disorder", "isLeaf": false, "isRoot": false, "parents": [ 4586, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:409", "EFO:0001421", "ICD10CM:K70-K77", "ICD9:573.8", "ICD9:573.9", "MEDGEN:893061", "MESH:D008107", "NCIT:C3196", "SCTID:235856003", "UMLS:C4021780", "icd11.foundation:1784240230" ], "synonyms": [ "disease of liver", "disease or disorder of liver", "disorder of liver", "hepatic disease", "hepatic disorder", "liver and intrahepatic bile duct disorder", "liver disease", "liver disease or disorder", "liver disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the liver." }, "child_count": 64, "reference_id": "MONDO:0005154" }, { "id": 7151, "label": "adrenal gland disorder", "isLeaf": false, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9553", "EFO:0005539", "ICD9:255", "ICD9:255.8", "ICD9:255.9", "MEDGEN:892577", "MESH:D000307", "NCIT:C26690", "SCTID:30171000", "UMLS:C4021794" ], "synonyms": [ "adrenal gland disease", "adrenal gland disease or disorder", "adrenal gland diseases", "adrenal gland disorder", "adrenal gland disorders", "disease of adrenal gland", "disease or disorder of adrenal gland", "disorder of adrenal gland" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease involving the adrenal gland." }, "child_count": 18, "reference_id": "MONDO:0005495" }, { "id": 7419, "label": "hyperinsulinemic hypoglycemia", "isLeaf": false, "isRoot": false, "parents": [ 6875, 19082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13317", "EFO:0007318", "GARD:0021849", "HP:0000825", "MEDGEN:351247", "NANDO:2100143", "NANDO:2200399", "OMIMPS:256450", "Orphanet:443095", "SCTID:42681006", "UMLS:C1864903" ], "synonyms": [ "hyperinsulinemia hypoglycemia", "hyperinsulinemic hypoglycemia (disease)", "nesidioblastosis" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11." }, "child_count": 10, "reference_id": "MONDO:0005803" }, { "id": 7855, "label": "non-neoplastic bile duct disorder", "isLeaf": false, "isRoot": false, "parents": [ 4900, 6875 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000400", "MEDGEN:476793", "NCIT:C35774", "UMLS:C3275160" ], "synonyms": [ "non-neoplastic bile duct disorder" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia." }, "child_count": 10, "reference_id": "MONDO:0006322" }, { "id": 8200, "label": "endocrine tuberculosis", "isLeaf": false, "isRoot": false, "parents": [ 6875, 18237 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024464", "MEDGEN:52884", "MESH:D014383", "UMLS:C0041310" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis." }, "child_count": 2, "reference_id": "MONDO:0006743" }, { "id": 8656, "label": "campomelic dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 6875, 7171, 16088, 19475 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050463", "GARD:0010027", "ICD9:733.29", "MEDGEN:354620", "MESH:D055036", "NCIT:C84609", "NORD:884", "OMIM:114290", "Orphanet:140", "SCTID:74928006", "UMLS:C1861922", "icd11.foundation:913761638" ], "synonyms": [ "CMD", "Campomelic Syndrome", "campomelic dwarfism", "campomelic dysplasia", "acampomelic campomelic dysplasia", "CMPD1", "Cmd1", "Cmpd", "Cmpd1/Sra1", "acampomelic campomelic dysplasia with autosomal Sex reversal", "campomelic dysplasia with autosomal Sex reversal", "camptomelic dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations)." }, "child_count": 0, "reference_id": "MONDO:0007251" }, { "id": 9778, "label": "polycystic ovary syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11612", "EFO:0000660", "ICD10CM:E28.2", "ICD9:256.4", "MEDGEN:10836", "MESH:D011085", "NANDO:2100149", "NANDO:2200409", "NCIT:C26862", "OMIM:184700", "Orphanet:3185", "SCTID:69878008", "UMLS:C0032460", "icd11.foundation:1213633323" ], "synonyms": [ "PCOS", "Stein-Leventhal syndrome", "polycystic ovarian disease", "polycystic ovaries", "polycystic ovary syndrome", "PCOS1", "polycystic ovary syndrome 1", "PCO1", "hyperandrogenemia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." }, "child_count": 0, "reference_id": "MONDO:0008487" }, { "id": 10178, "label": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5121, 6875, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111584", "GARD:0003373", "MEDGEN:162901", "NCIT:C174217", "OMIM:212112", "Orphanet:2229", "SCTID:719451006", "UMLS:C0796031" ], "synonyms": [ "Malouf syndrome", "Najjar syndrome", "cardiogenital syndrome", "cardiomyopathy with primary testicular failure", "cardiomyopathy, congestive, with hypergonadotropic hypogonadism", "cardiomyopathy, dilated, with hypergonadotropic hypogonadism", "cardiomyopathy, dilated, with premature ovarian failure", "dilated cardiomyopathy with hypergonadotropic hypogonadism", "genital anomaly with cardiomyopathy" ], "categories": [ { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH)." }, "child_count": 0, "reference_id": "MONDO:0008915" }, { "id": 10394, "label": "hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6875, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002049", "MEDGEN:384046", "MESH:C565604", "OMIM:225050", "Orphanet:1882", "SCTID:239050000", "UMLS:C1857052" ], "synonyms": [ "HEDH syndrome", "another syndrome", "ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia", "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia", "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia", "hypohidrotic ectodermal dysplasia with hypothyroidism", "hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009150" }, { "id": 10511, "label": "genito-palato-cardiac syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6875, 16089 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002460", "MEDGEN:341558", "MESH:C537683", "OMIM:231060", "Orphanet:2075", "UMLS:C1856466", "icd11.foundation:2011995320" ], "synonyms": [ "Gardner-Silengo-Wachtel syndrome", "GENITOPALATOCARDIAC syndrome", "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect", "genito palato cardiac syndrome" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies." }, "child_count": 0, "reference_id": "MONDO:0009270" }, { "id": 10647, "label": "hypoinsulinemic hypoglycemia and body hemihypertrophy", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6875, 19480 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112263", "GARD:0017352", "MEDGEN:480014", "OMIM:240900", "Orphanet:293964", "UMLS:C3278384" ], "synonyms": [ "HIHGHH", "hypoinsulinemic hypoglycemia with hemihypertrophy" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009416" }, { "id": 10666, "label": "Bamforth-Lazarus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050655", "GARD:0000414", "MEDGEN:343420", "MESH:C537901", "OMIM:241850", "Orphanet:1226", "SCTID:722375007", "UMLS:C1855794", "icd11.foundation:1747690671" ], "synonyms": [ "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome", "Bamforth syndrome", "Bamforth-Lazarus syndrome", "hypothyroidism-cleft palate syndrome", "hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate", "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases." }, "child_count": 0, "reference_id": "MONDO:0009437" }, { "id": 12475, "label": "blepharophimosis - intellectual disability syndrome, SBBYS type", "isLeaf": true, "isRoot": false, "parents": [ 3111, 4370, 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060290", "GARD:0016618", "ICD9:759.89", "MEDGEN:350209", "MESH:C536717", "NANDO:1200681", "NANDO:2200982", "OMIM:603736", "Orphanet:3047", "SCTID:699298009", "UMLS:C1863557" ], "synonyms": [ "Ohdo syndrome, SBBYS variant", "SBBYSS", "SBBYSS syndrome", "Say-Barber-Biesecker-Young-Simpson syndrome", "blepharophimosis - intellectual disability syndrome, SBBYS type", "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome", "Young-Simpson syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested." }, "child_count": 0, "reference_id": "MONDO:0011365" }, { "id": 14696, "label": "Wolfram-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6875, 24687 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080584", "GARD:0017683", "MEDGEN:481988", "MESH:C565631", "OMIM:614296", "Orphanet:411590", "SCTID:734022008", "UMLS:C3280358" ], "synonyms": [ "Wolfram-like syndrome", "WFSL", "Wolfram-like syndrome, autosomal dominant", "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings." }, "child_count": 0, "reference_id": "MONDO:0013673" }, { "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": 16071, "label": "polyendocrinopathy", "isLeaf": false, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019800", "MEDGEN:1826133", "Orphanet:101956", "UMLS:C5681797" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 7, "reference_id": "MONDO:0015126" }, { "id": 16072, "label": "pituitary deficiency", "isLeaf": false, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019801", "Orphanet:101957", "icd11.foundation:292840069" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 5, "reference_id": "MONDO:0015127" }, { "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": 16440, "label": "diencephalic syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006276", "ICD9:253.8", "MEDGEN:90981", "NCIT:C116955", "NORD:1052", "Orphanet:1672", "SCTID:237733001", "UMLS:C0342436", "icd11.foundation:879659089" ], "synonyms": [ "Russell diencephalic cachexia", "Russell syndrome", "diencephalic cachexia", "diencephalic syndrome of childhood", "diencephalic syndrome of emaciation", "diencephalic syndrome of infancy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors." }, "child_count": 0, "reference_id": "MONDO:0015663" }, { "id": 17019, "label": "muscular pseudohypertrophy-hypothyroidism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008270", "MEDGEN:82860", "Orphanet:2349", "SCTID:716338001", "UMLS:C0270958" ], "synonyms": [ "Kocher-Debre-Semelaigne syndrome", "Kocher-Debré-Semelaigne syndrome", "Hoffman syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism." }, "child_count": 0, "reference_id": "MONDO:0016521" }, { "id": 17049, "label": "neonatal iodine exposure", "isLeaf": true, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020644", "MEDGEN:1669806", "Orphanet:238688", "UMLS:C4751432" ], "synonyms": [ "iodine antenatal exposure" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates." }, "child_count": 0, "reference_id": "MONDO:0016554" }, { "id": 17641, "label": "disorders of vitamin D metabolism", "isLeaf": false, "isRoot": false, "parents": [ 6875, 7182 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021132", "MEDGEN:1842308", "Orphanet:289098", "UMLS:C5681017" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 2, "reference_id": "MONDO:0017322" }, { "id": 17715, "label": "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010407", "MEDGEN:1670711", "NCIT:C121944", "NORD:1648", "Orphanet:293987", "UMLS:C4751121" ], "synonyms": [ "ROHHAD", "ROHHAD syndrome", "ROHHADNET", "Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation", "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome", "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndrome", "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation", "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome", "rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin." }, "child_count": 0, "reference_id": "MONDO:0017408" }, { "id": 18029, "label": "duplication of the pituitary gland", "isLeaf": true, "isRoot": false, "parents": [ 6799, 6875, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021381", "MEDGEN:1663161", "Orphanet:314621", "UMLS:C4755258" ], "synonyms": [ "DPG-plus syndrome", "Duplication of the pituitary gland-plus syndrome", "hypophyseal duplication" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017808" }, { "id": 18499, "label": "familial hypocalciuric hypercalcemia", "isLeaf": false, "isRoot": false, "parents": [ 3771, 6875, 17416, 18954, 22225 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060699", "GARD:0010828", "MEDGEN:369200", "NCIT:C123262", "OMIMPS:145980", "Orphanet:405", "SCTID:237885008", "UMLS:C1809471", "icd11.foundation:81374726" ], "synonyms": [ "familial benign hypercalcemia", "familial benign hypocalciuric hypercalcemia", "FBH", "FBHH", "FHH", "hypocalciuric hypercalcemia" ], "categories": [ { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." }, "child_count": 15, "reference_id": "MONDO:0018458" }, { "id": 18619, "label": "hypothalamic adipsic hypernatraemia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6799, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021850", "MEDGEN:1814472", "NANDO:2200325", "Orphanet:443101", "UMLS:C5681196" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018620" }, { "id": 19032, "label": "Leydig cell hypoplasia", "isLeaf": false, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112259", "GARD:0003244", "MEDGEN:449533", "MESH:C562567", "MedDRA:10024406", "Orphanet:755", "UMLS:C0860158", "icd11.foundation:472787488" ], "synonyms": [ "46,XY DSD due to LH resistance or LHB deficiency", "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", "46,XY disorder of sex development due to LH resistance or LHB deficiency", "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", "Male pseudohermaphroditism due to LH resistance or LHB deficiency", "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency", "46,XY disorder of sex development due to LH defects", "LH resistance due to LH receptor deactivation", "Leydig cell agenesis", "Male hypergonadotropic hypogonadism due to LHCGR defect" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person." }, "child_count": 2, "reference_id": "MONDO:0019155" }, { "id": 19055, "label": "inherited obesity", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6875, 12246 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018935", "MEDGEN:885912", "OMIM:601665", "Orphanet:77828", "UMLS:C4054476" ], "synonyms": [ "genetic obesity", "genetic obesity (disease)", "leanness, inherited, autosomal recessive", "monogenic obesity", "obesity, association with, Autosomal recessive", "obesity, early-onset, susceptibility to, Autosomal recessive", "obesity, late-onset, Autosomal recessive", "obesity, mild, early-onset, Autosomal recessive", "obesity, severe, Autosomal recessive", "obesity, severe, and type II diabetes, Autosomal recessive", "obesity, susceptibility to, Autosomal recessive" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 21, "reference_id": "MONDO:0019182" }, { "id": 19231, "label": "beta thalassemia", "isLeaf": false, "isRoot": false, "parents": [ 3252, 6875, 17501 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12241", "GARD:0000871", "ICD10CM:D56.1", "ICD9:282.44", "ICD9:282.49", "MEDGEN:2611", "MESH:D017086", "MedDRA:10043391", "NANDO:2201274", "NCIT:C34375", "NORD:1765", "Orphanet:848", "SCTID:65959000", "UMLS:C0005283", "icd11.foundation:2063292324" ], "synonyms": [ "Beta thalassemia intermedia", "Beta thalassemia minor", "Thalassemias, beta-", "erythroblastic anaemia", "erythroblastic anemia", "thalassemia major", "thalassemia, Hispanic gamma-delta-beta" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)." }, "child_count": 9, "reference_id": "MONDO:0019402" }, { "id": 22244, "label": "thyroid hormone metabolism, abnormal", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:355288", "OMIMPS:609698", "UMLS:C1864761" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0031432" }, { "id": 23822, "label": "neuroendocrine disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799, 6875 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1843486", "UMLS:C0541403" ], "synonyms": [ "neuroendocrine system disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli." }, "child_count": 8, "reference_id": "MONDO:0100070" }, { "id": 24245, "label": "NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027999" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998." }, "child_count": 9, "reference_id": "MONDO:0100520" }, { "id": 24647, "label": "parneoplastic endocrine syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6875, 20314 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Paraneoplastic syndrome that involves the endocrine system." }, "child_count": 4, "reference_id": "MONDO:0700252" }, { "id": 24967, "label": "17,20-lyase deficiency, isolated", "isLeaf": true, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028052", "MEDGEN:479479", "Orphanet:90796", "UMLS:C3277849" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800378" }, { "id": 24968, "label": "17-alpha-hydroxylase/17,20-lyase deficiency, combined complete", "isLeaf": true, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800379" }, { "id": 24969, "label": "17-alpha-hydroxylase/17,20-lyase deficiency, combined partial", "isLeaf": true, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:865627", "UMLS:C4017190" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800380" }, { "id": 25052, "label": "disorder of GNAS inactivation", "isLeaf": false, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028065" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC)." }, "child_count": 5, "reference_id": "MONDO:0800466" }, { "id": 26171, "label": "acquired hypothalamic obesity", "isLeaf": true, "isRoot": false, "parents": [ 6875 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027424", "MEDGEN:1876719", "Orphanet:689401", "UMLS:C6012378" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975922" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }