{ "id": 16526, "label": "congenital hypogonadotropic hypogonadism", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015770", "properties": { "xrefs": [ "GARD:0020135", "MEDGEN:859097", "NANDO:1200383", "NCIT:C120162", "Orphanet:174590", "SCTID:722944006", "UMLS:C3899503", "icd11.foundation:1752075408" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)." }, "isLeaf": false, "isRoot": false, "child_count": 25, "parents": [ { "id": 18569, "label": "hypogonadotropic hypogonadism", "isLeaf": false, "isRoot": false, "parents": [ 4278, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090070", "DOID:7455", "GARD:0016533", "HP:0000044", "ICD9:253.4", "MEDGEN:82883", "NANDO:1200388", "NANDO:2100138", "NANDO:2200382", "NCIT:C113347", "OMIMPS:147950", "Orphanet:432", "SCTID:33927004", "UMLS:C0271623" ], "synonyms": [ "Normosmic idiopathic hypogonadotropic hypogonadism", "central hypogonadism", "gonadotropic deficiency", "hypogonadism, hypogonadotropic", "hypogonadotropic hypogonadism", "hypogonadotropic hypogonadism with or without anosmia", "low gonadotropins (secondary hypogonadism)", "nIHH", "normosmic congenital hypogonadotropic hypogonadism", "secondary hypogonadism", "congenital idiopathic hypogonadotropic hypogonadism", "isolated congenital gonadotropin deficiency", "hypogonadotropism", "isolated hypogonadotropic hypogonadism" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis." }, "child_count": 20, "reference_id": "MONDO:0018555" }, { "id": 19562, "label": "non-acquired pituitary hormone deficiency", "isLeaf": false, "isRoot": false, "parents": [ 16072, 16330 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019272", "MEDGEN:1842784", "Orphanet:95488", "UMLS:C5681572" ], "categories": [ { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 10, "reference_id": "MONDO:0019824" } ], "children": [ { "id": 8636, "label": "brachytelephalangy-dysmorphism-Kallmann syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16089, 16526, 18362, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016562", "MEDGEN:444052", "MESH:C537101", "OMIM:113480", "Orphanet:1295", "UMLS:C2931421" ], "synonyms": [ "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" ], "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": "Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986." }, "child_count": 0, "reference_id": "MONDO:0007231" }, { "id": 9139, "label": "hypogonadotropic hypogonadism 7 with or without anosmia", "isLeaf": true, "isRoot": false, "parents": [ 16526 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090078", "GARD:0002897", "ICD9:253.4", "MEDGEN:87440", "MESH:C562785", "NANDO:1200382", "OMIM:146110", "SCTID:123953004", "UMLS:C0342384" ], "synonyms": [ "hypogonadotropic hypogonadism 7 with or without anosmia", "hypogonadotropic hypogonadism 7 without anosmia", "HH7", "hypogonadism, isolated hypogonadotropic", "idiopathic hypogonadotropic hypogonadism" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported." }, "child_count": 0, "reference_id": "MONDO:0007794" }, { "id": 9606, "label": "Prader-Willi syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 16088, 16526, 18950, 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11983", "GARD:0005575", "ICD10CM:Q87.11", "ICD9:759.81", "MEDGEN:46057", "MESH:D011218", "MedDRA:10036476", "NANDO:1200678", "NANDO:2200411", "NCIT:C75463", "NORD:1602", "OMIM:176270", "Orphanet:739", "SCTID:89392001", "UMLS:C0032897", "icd11.foundation:393773440" ], "synonyms": [ "Prader-Labhart-Willi syndrome", "Prader-Willi syndrome", "Prader-Willi-Labhart syndrome", "Willi-Prader syndrome", "PWS", "Prader-Willi syndrome chromosome region", "Prader-Willi-like syndrome associated with chromosome 6", "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet", "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet" ], "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": "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." }, "child_count": 35, "reference_id": "MONDO:0008300" }, { "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": 10197, "label": "cerebellar ataxia-hypogonadism syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16526, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111587", "GARD:0003314", "MEDGEN:349137", "MESH:C565870", "OMIM:212840", "Orphanet:1173", "UMLS:C1859305" ], "synonyms": [ "Gordon-Holmes syndrome", "luteinizing hormone-releasing hormone deficiency with ataxia", "GDHS", "Gordon Holmes syndrome", "LHRH deficiency and ataxia", "cerebellar ataxia - hypogonadism", "cerebellar ataxia and hypogonadotropic hypogonadism", "luteinizing hormone releasing hormone, deficiency of with ataxia", "luteinizing hormone-releasing hormone, deficiency of, with ataxia" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome." }, "child_count": 2, "reference_id": "MONDO:0008935" }, { "id": 10223, "label": "CHARGE syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16088, 16526, 20691, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050834", "GARD:0000029", "ICD9:759.89", "MEDGEN:75567", "MESH:D058747", "MedDRA:10064063", "NANDO:1200464", "NANDO:2200972", "NCIT:C75100", "NORD:920", "Orphanet:138", "SCTID:47535005", "UMLS:C0265354", "icd11.foundation:52086532" ], "synonyms": [ "CHARGE association", "CHARGE syndrome", "Hall-Hittner syndrome", "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association", "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association", "coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome", "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies", "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's)." }, "child_count": 5, "reference_id": "MONDO:0008965" }, { "id": 10238, "label": "ataxia-hypogonadism-choroidal dystrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16526, 24045 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111265", "GARD:0000944", "MEDGEN:347798", "MESH:C565850", "OMIM:215470", "Orphanet:1180", "SCTID:715984007", "UMLS:C1859093" ], "synonyms": [ "BNHS", "Boucher-Neuhauser syndrome", "Boucher-Neuhchäuser syndrome", "Boucher-Neuhäuser syndrome", "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism", "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy", "ataxia - hypogonadism - choroidal dystrophy" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome." }, "child_count": 0, "reference_id": "MONDO:0008980" }, { "id": 10650, "label": "Woodhouse-Sakati syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16526, 18404, 23452 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112264", "GARD:0005592", "ICD9:759.89", "MEDGEN:83337", "MESH:C536742", "OMIM:241080", "Orphanet:3464", "SCTID:237616002", "UMLS:C0342286", "icd11.foundation:1893572805" ], "synonyms": [ "Woodhouse-Sakati syndrome", "diabetes-hypogonadism-deafness-intellectual disability syndrome", "woodhouse-Sakati syndrome", "extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia", "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia", "hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome", "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome", "hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities", "hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities", "woodhouse Sakati syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia." }, "child_count": 0, "reference_id": "MONDO:0009419" }, { "id": 10738, "label": "Laurence-Moon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7611, 16087, 16526 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1930", "GARD:0012635", "ICD9:253.4", "MEDGEN:44078", "MESH:D007849", "MedDRA:10056710", "NCIT:C34760", "NORD:1932", "OMIM:245800", "Orphanet:2377", "SCTID:232059000", "UMLS:C0023138", "icd11.foundation:458834940" ], "synonyms": [ "LMS", "Laurence-Moon syndrome", "LNMS", "Laurence-MOON syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy." }, "child_count": 0, "reference_id": "MONDO:0009514" }, { "id": 11438, "label": "X-linked adrenal hypoplasia congenita", "isLeaf": false, "isRoot": false, "parents": [ 2902, 4427, 16074, 16526, 16815 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080156", "GARD:0000555", "MEDGEN:87442", "NANDO:1200403", "NANDO:2200357", "NCIT:C123725", "OMIM:300200", "Orphanet:95702", "SCTID:93235007", "UMLS:C0342482" ], "synonyms": [ "AHC", "adrenal hypoplasia congenita", "X-linked adrenal hypoplasia congenita", "X-linked congenital adrenal hypoplasia", "adrenal hypoplasia, congenital, X-linked recessive", "AHC with HHG", "AHC with isolated gonadotropin deficiency", "Addison disease, X-linked", "X-linked AHC", "adrenal hypoplasia, congenital", "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism", "adrenal hypoplasia, congenital, with precocious puberty", "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism", "cytomegalic adrenocortical hypoplasia", "cytomegalic congenital adrenal hypoplasia", "mineralocorticoid deficiency, isolated" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism." }, "child_count": 5, "reference_id": "MONDO:0010264" }, { "id": 12090, "label": "obesity due to prohormone convertase I deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16526, 19055 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111698", "GARD:0016689", "MEDGEN:318777", "MESH:C563423", "NORD:109523", "OMIM:600955", "Orphanet:71528", "SCTID:722053001", "UMLS:C1833053" ], "synonyms": [ "PCI deficiency", "PCSK1 Deficiency", "obesity and endocrinopathy due to impaired processing of prohormones", "proprotein convertase 1/3 deficiency" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones." }, "child_count": 0, "reference_id": "MONDO:0010961" }, { "id": 12437, "label": "arhinia, choanal atresia, and microphthalmia", "isLeaf": true, "isRoot": false, "parents": [ 16089, 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027263", "MEDGEN:355084", "MESH:C537429", "OMIM:603457", "Orphanet:1135", "Orphanet:2250", "SCTID:720511000", "UMLS:C1863878" ], "synonyms": [ "BAMS", "Bosma Arhinia Microphthalmia Syndrome", "Bosma Henkin Christiansen syndrome", "Bosma arhinia microphthalmia syndrome", "Bosma arhinia-microphthalmia syndrome", "Bosma-Henkin-Christiansen syndrome", "arhinia choanal atresia microphthalmia", "arrhinia-choanal atresia-microphthalmia syndrome", "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome", "congenital absence of nose and anterior nasopharynx" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any syndromic disease characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence that occurs due to variation in the SMCHD1 gene." }, "child_count": 0, "reference_id": "MONDO:0011323" }, { "id": 13834, "label": "ANE syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 16526, 18727 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112244", "GARD:0016987", "MEDGEN:394313", "MESH:C567425", "OMIM:612079", "Orphanet:157954", "UMLS:C2677535" ], "synonyms": [ "ANE syndrome", "alopecia-progressive neurological defect-endocrinopathy syndrome", "alopecia, neurologic defects, and endocrinopathy syndrome", "anes" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." }, "child_count": 0, "reference_id": "MONDO:0012794" }, { "id": 14137, "label": "combined pituitary hormone deficiencies, genetic form", "isLeaf": false, "isRoot": false, "parents": [ 4427, 6876, 16526, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010602", "MEDGEN:906592", "OMIMPS:613038", "Orphanet:95494", "SCTID:718182008", "UMLS:C4273747" ], "synonyms": [ "familial congenital hypopituitarism", "genetic hypopituitarism", "multiple pituitary hormone deficiencies, genetic forms", "pituitary hormone deficiency, combined", "combined pituitary hormone deficiencies, genetic forms", "familial hypopituitarism" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy." }, "child_count": 36, "reference_id": "MONDO:0013099" }, { "id": 15001, "label": "obesity due to congenital leptin deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16526, 19055 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111334", "GARD:0013015", "MEDGEN:767138", "NORD:110641", "OMIM:614962", "Orphanet:66628", "UMLS:C3554224", "icd11.foundation:591009309" ], "synonyms": [ "Congenital Leptin Deficiency", "obesity, morbid, due to leptin deficiency", "LEPD", "leptin deficiency or dysfunction", "obesity, morbid, nonsyndromic 1" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia." }, "child_count": 0, "reference_id": "MONDO:0013991" }, { "id": 15002, "label": "obesity due to leptin receptor gene deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16526, 19055 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017083", "MEDGEN:767139", "NCIT:C120386", "NORD:109401", "OMIM:614963", "Orphanet:179494", "UMLS:C3554225", "icd11.foundation:997823205" ], "synonyms": [ "LEPR Deficiency", "obesity due to leptin receptor gene deficiency", "obesity, morbid, due to leptin receptor deficiency", "leptin receptor deficiency", "obesity, morbid, nonsyndromic 2" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013992" }, { "id": 15496, "label": "polyendocrine-polyneuropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017787", "MEDGEN:863698", "OMIM:616113", "Orphanet:453533", "UMLS:C4015261" ], "synonyms": [ "polyendocrine-polyneuropathy syndrome", "PEPNS" ], "categories": [ { "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:0014497" }, { "id": 16915, "label": "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000324", "MEDGEN:928748", "Orphanet:2230", "SCTID:721842008", "UMLS:C4303079" ], "synonyms": [ "Salti-Salem syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia." }, "child_count": 0, "reference_id": "MONDO:0016384" }, { "id": 16917, "label": "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001234", "MEDGEN:419479", "MESH:C538075", "Orphanet:2235", "UMLS:C2931722" ], "synonyms": [ "Chang-Davidson-Carlson syndrome" ], "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 the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents." }, "child_count": 0, "reference_id": "MONDO:0016386" }, { "id": 17017, "label": "Kallmann syndrome-heart disease syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16088, 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018767", "MEDGEN:928566", "Orphanet:2326", "UMLS:C4302897" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome." }, "child_count": 0, "reference_id": "MONDO:0016515" }, { "id": 17048, "label": "isolated congenital hypogonadotropic hypogonadism", "isLeaf": false, "isRoot": false, "parents": [ 16526 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020643", "MEDGEN:1842176", "Orphanet:238666", "UMLS:C5679849" ], "synonyms": [ "nonsyndromic congenital hypogonadotropic hypogonadism" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome." }, "child_count": 1, "reference_id": "MONDO:0016553" }, { "id": 17245, "label": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 9332, 16526, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003698", "MEDGEN:419697", "MESH:C535806", "Orphanet:2560", "UMLS:C2931024" ], "synonyms": [ "Moebius axonal neuropathy hypogonadism", "Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type" ], "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" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism." }, "child_count": 0, "reference_id": "MONDO:0016819" }, { "id": 17713, "label": "hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16526, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021174", "MEDGEN:1663043", "Orphanet:293967", "UMLS:C4751123" ], "synonyms": [ "hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017406" }, { "id": 18437, "label": "Prader-Willi-like syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4427, 16088, 16526, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021641", "MEDGEN:816207", "Orphanet:398073", "UMLS:C3809877" ], "synonyms": [ "PWS-like" ], "categories": [ { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities." }, "child_count": 12, "reference_id": "MONDO:0018354" }, { "id": 29392, "label": "Martsolf syndrome 1", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16526, 21280 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111586", "GARD:0003406", "MEDGEN:1778114", "MESH:C536028", "OMIM:212720", "Orphanet:1387", "SCTID:722380003", "UMLS:C5542298" ], "synonyms": [ "MARTSOLF syndrome", "Martsolf syndrome", "cataract-intellectual disability-hypogonadism syndrome", "cataract-mental retardation-hypogonadism", "cataract-intellectual disability-hypogonadism" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism." }, "child_count": 0, "reference_id": "MONDO:8000008" } ], "roots": [ { "id": 18569, "label": "hypogonadotropic hypogonadism" }, { "id": 19562, "label": "non-acquired pituitary hormone deficiency" } ] }