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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4880&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4840&ordering=-synonyms",
"results": [
{
"identifier": "Craniofacial microsomia 1.",
"acronym": "CFM1.",
"accession": "DI-06354",
"synonyms": "Facioauriculovertebral sequence.; Facio-auriculo-vertebral spectrum.; FAV sequence.; Goldenhar syndrome.; Hemifacial microsomia.; HFM.; OAV dysplasia.; OAVS.; Oculoauricular vertebral dysplasia.; Oculoauriculovertebral spectrum.; Oculo-auriculo-vertebral spectrum.; ",
"cross_references": "MeSH; D006053.",
"definition": "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. CFM1 is an autosomal dominant form characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts. Affected individuals also present skeletal and cardiac abnormalities. ",
"keywords": null
},
{
"identifier": "Alazami syndrome.",
"acronym": "ALAZS.",
"accession": "DI-03653",
"synonyms": "Facial dysmorphism intellectual disability and primordial dwarfism.; ",
"cross_references": "MeSH; D008607.",
"definition": "A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "3MC syndrome 3.",
"acronym": "3MC3.",
"accession": "DI-04982",
"synonyms": "Facial clefting syndrome Gypsy type.; Malpuech facial clefting syndrome.; Malpuech syndrome.; ",
"cross_references": "MeSH; D005141.",
"definition": "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. ",
"keywords": null
},
{
"identifier": "Fanconi anemia complementation group D2.",
"acronym": "FANCD2.",
"accession": "DI-02763",
"synonyms": "FA4.; FACD.; FAD2.; FANCD.; Fanconi anemia complementation group D.; Fanconi pancytopenia type 4.; ",
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia complementation group C.",
"acronym": "FANCC.",
"accession": "DI-03112",
"synonyms": "FA3.; FAC.; FACC.; Fanconi pancytopenia type 3.; ",
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia complementation group B.",
"acronym": "FANCB.",
"accession": "DI-01600",
"synonyms": "FA2.; Fanconi pancytopenia type 2.; ",
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fundus albipunctatus.",
"acronym": "FALBI.",
"accession": "DI-04584",
"synonyms": "FA.; ",
"cross_references": "MeSH; D012164.",
"definition": "A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Factor XIII subunit A deficiency.",
"acronym": "FA13AD.",
"accession": "DI-01543",
"synonyms": "F13 deficiency type 2.; Type II F13 deficiency.; ",
"cross_references": "MeSH; D005177.",
"definition": "An autosomal recessive hematologic disorder characterized by a life- long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. ",
"keywords": null
},
{
"identifier": "Factor XIII subunit B deficiency.",
"acronym": "FA13BD.",
"accession": "DI-02829",
"synonyms": "F13 deficiency type 1.; Type I F13 deficiency.; ",
"cross_references": "MeSH; D005177.",
"definition": "An autosomal recessive hematologic disorder characterized by a life- long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. ",
"keywords": null
},
{
"identifier": "Factor XI deficiency.",
"acronym": "FA11D.",
"accession": "DI-01542",
"synonyms": "F11 deficiency.; Factor 11 deficiency.; Hemophilia C.; Plasma thromboplastin antecedent deficiency.; PTA deficiency.; Rosenthal factor deficiency.; Rosenthal syndrome.; ",
"cross_references": "MeSH; D005173.",
"definition": "A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate. ",
"keywords": null
},
{
"identifier": "Factor X deficiency.",
"acronym": "FA10D.",
"accession": "DI-03028",
"synonyms": "F10 deficiency.; Factor 10 deficiency.; Stuart-Prower factor deficiency.; ",
"cross_references": "MeSH; D005171.",
"definition": "A hemorrhagic disease with variable presentation. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. Some patients do not have clinical bleeding diathesis. ",
"keywords": null
},
{
"identifier": "Transaldolase deficiency.",
"acronym": "TALDOD.",
"accession": "DI-02377",
"synonyms": "Eyaid syndrome.; TALDO deficiency.; ",
"cross_references": "MeSH; D002239.",
"definition": "An inborn error of the pentose phosphate pathway resulting in early- onset multisystem disease. Clinical features include growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, telangiectases of the skin, pancytopenia, and bleeding tendency. ",
"keywords": null
},
{
"identifier": "Dyskeratosis congenita, autosomal dominant, 5.",
"acronym": "DKCA5.",
"accession": "DI-00998",
"synonyms": "Exudative retinopathy with bone marrow failure.; Revesz Debuse syndrome.; Revesz syndrome.; ",
"cross_references": "MeSH; D019871.",
"definition": "A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Extraoral halitosis due to methanethiol oxidase deficiency.",
"acronym": "EHMTO.",
"accession": "DI-05353",
"synonyms": "Extraoral halitosis due to MTO deficiency.; Extraoral halitosis with dimethylsulfoxiduria.; Methanethiol oxidase deficiency.; MTO deficiency.; ",
"cross_references": "MeSH; D006209.",
"definition": "An autosomal recessive malodor condition characterized by extraoral blood-borne halitosis resulting from the accumulation of sulfur- containing metabolites. In extraoral blood-borne halitosis, malodorant compounds are carried to the lungs, where they enter the breath. Affected individuals have a cabbage-like breath odor, high levels of methanethiol and dimethylsulfide in oral and nasal breath, and elevated urinary excretion of dimethylsulfoxide in the absence of intake of dimethylsulfide-containing food or use of sulfur-containing medication, lower-gastrointestinal problems, and known metabolic defects, such as methionine adenosyltransferase deficiency and tyrosinemia. ",
"keywords": null
},
{
"identifier": "Exfoliation syndrome.",
"acronym": "XFS.",
"accession": "DI-02667",
"synonyms": "Exfoliation glaucoma.; Exfoliative syndrome.; Glaucoma capsulare.; PEX.; Pseudoexfoliation of the lens.; Pseudoexfoliation syndrome.; Pseudo-exfoliation syndrome.; XFG.; ",
"cross_references": "MeSH; D017889.",
"definition": "A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 7.",
"acronym": "HHF7.",
"accession": "DI-01584",
"synonyms": "Exercise-induced hyperinsulinemic hypoglycemia.; ",
"cross_references": "MeSH; D007003.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF7 features include exercise-induced hyperinsulinism, loss of consciousness due to hypoglycemia, and hypoglycemic seizures. HHF7 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, exudative 2.",
"acronym": "EVR2.",
"accession": "DI-01127",
"synonyms": "EVRX.; Exudative vitreoretinopathy familial 2.; FEVRX.; FEVR X-linked.; X-linked familial exudative vitreoretinopathy.; ",
"cross_references": "MeSH; D012164.",
"definition": "A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. ",
"keywords": null
},
{
"identifier": "Goiter multinodular 1, with or without Sertoli-Leydig cell tumors.",
"acronym": "MNG1.",
"accession": "DI-03075",
"synonyms": "Euthyroid goiter.; Goiter nontoxic with intrathyroidal calcification.; Goiter non-toxic with intrathyroidal calcification.; Multinodular goiter adolescent.; Simple goiter.; ",
"cross_references": "MeSH; D006044.",
"definition": "A common disorder characterized by nodular overgrowth of the thyroid gland. Some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary. ",
"keywords": null
},
{
"identifier": "Hypogonadotropic hypogonadism 12 with or without anosmia.",
"acronym": "HH12.",
"accession": "DI-03572",
"synonyms": "Eunuchoidism, familial hypogonadotropic.; FIGD.; Gonadotropin deficiency, familial idiopathic.; ",
"cross_references": "MeSH; D007006.",
"definition": "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ",
"keywords": "KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Estrogen resistance.",
"acronym": "ESTRR.",
"accession": "DI-03869",
"synonyms": "Estrogen insensitivity.; ",
"cross_references": "MeSH; D004351.",
"definition": "A disorder characterized by partial or complete resistance to estrogens, in the presence of elevated estrogen serum levels. Clinical features include absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, reduced bone mineral density, osteoporosis, continued growth into adulthood and very tall adult stature. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. ",
"keywords": "KW-1285:Osteoporosis.; "
}
]
}