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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=640&ordering=synonyms",
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"results": [
{
"identifier": "Gitelman syndrome.",
"acronym": "GTLMNS.",
"accession": "DI-00510",
"synonyms": "Bartter syndrome Gitelman variant.; Bartter syndrome hypocalciuric variant.; Potassium and magnesium depletion.; Primary renotubular hypomagnesemia-hypokalemia with hypocalciuria.; ",
"cross_references": "MeSH; D053579.",
"definition": "An autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome. ",
"keywords": null
},
{
"identifier": "Bartter syndrome 4A, neonatal, with sensorineural deafness.",
"acronym": "BARTS4A.",
"accession": "DI-00176",
"synonyms": "Bartter syndrome, neonatal, with sensorineural deafness.; BSND.; Hyperprostanglandin E syndrome 4.; Hypokalemic alkalosis with hypercalciuria antenatal 4.; Infantile Bartter syndrome with sensorineural deafness.; Sensorineural deafness with mild renal dysfunction.; ",
"cross_references": "MeSH; D001477.",
"definition": "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness. ",
"keywords": "KW-0209:Deafness.; KW-0910:Bartter syndrome.; "
},
{
"identifier": "Bartter syndrome 5, antenatal, transient.",
"acronym": "BARTS5.",
"accession": "DI-04715",
"synonyms": "Bartter syndrome, type 5, antenatal, transient.; ",
"cross_references": "MeSH; D001477.",
"definition": "An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age. ",
"keywords": "KW-0910:Bartter syndrome.; "
},
{
"identifier": "Basal cell nevus syndrome 1.",
"acronym": "BCNS1.",
"accession": "DI-00177",
"synonyms": "Basal cell nevus syndrome.; Gorlin-Goltz syndrome.; Gorlin syndrome.; Multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies.; NBCCS.; Nevoid basal cell carcinoma syndrome.; ",
"cross_references": "MeSH; D001478.",
"definition": "A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. BCNS1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders.",
"acronym": "EPILX1.",
"accession": "DI-00470",
"synonyms": "Bathing epilepsy, X-linked.; Epilepsy, X-linked, with reflex bathing seizures.; ",
"cross_references": "MeSH; D019954.",
"definition": "A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 3.",
"acronym": "CLN3.",
"accession": "DI-00812",
"synonyms": "Batten disease.; JNCL.; Juvenile neuronal ceroid lipofuscinosis.; Spielmeyer-Sjogren disease.; Vogt-Spielmeyer disease.; ",
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane- bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Bazex-Dupre-Christol syndrome.",
"acronym": "BDCS.",
"accession": "DI-06694",
"synonyms": "Bazex syndrome.; BZX.; Follicular atrophoderma and basal cell carcinomas.; Follicular atrophoderma and basal cell epitheliomata.; ",
"cross_references": "MeSH; D007039.",
"definition": "An X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face and extensor surfaces of the elbows or knees, and the development of basocellular neoplasms including basal cell nevi and basal cell carcinomas from the second decade onwards. Other reported features include associated hair shaft abnormalities (pili torti and trichorrhexis nodosa) admixed with hypotrichosis, prominent milia affecting the face, hypohidrosis, pinched nose with hypoplastic nasal alae and prominent columella, atopic diathesis with comedones, keratosis pilaris, joint hypermobility, lingua plicata and hyperpigmentation of the forehead. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Opitz GBBB syndrome.",
"acronym": "GBBB.",
"accession": "DI-02094",
"synonyms": "BBBG1.; GGGB1.; Hypertelorism-hypospadias syndrome.; Hypertelorism with esophageal abnormality and hypospadias.; Opitz BBBG syndrome type I.; Opitz GBBB syndrome type I.; Opitz GBBB syndrome X-linked.; Opitz-G syndrome type I.; Opitz syndrome.; Opitz syndrome X-linked.; OS.; OSX.; Telecanthus-hypospadias syndrome.; ",
"cross_references": "MeSH; D007021.",
"definition": "A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects. ",
"keywords": null
},
{
"identifier": "Teebi hypertelorism syndrome 1.",
"acronym": "TBHS1.",
"accession": "DI-05364",
"synonyms": "BBB syndrome.; Brachycephalofrontonasal dysplasia.; Chromosome 22q11.2 deletion syndrome, Opitz phenotype.; GBBB syndrome.; G syndrome.; Hypertelorism, Teebi type.; Hypertelorism-hypospadias syndrome.; Hypertelorism with esophageal abnormality and hypospadias.; Hypospadias-dysphagia syndrome.; OGS2.; Opitz BBBG syndrome.; Opitz-Frias syndrome.; Opitz GBBB syndrome, autosomal dominant.; Opitz-G syndrome, type II.; Opitz oculogenitolaryngeal syndrome, type II.; TBHS.; Teebi hypertelorism syndrome.; ",
"cross_references": "MeSH; D006972.",
"definition": "A form of Teebi hypertelorism syndrome, a syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Some affected individuals have limb, urogenital, umbilical and cardiac defects. Developmental delay and/or impaired intellectual development have been observed in some patients. TBHS1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Basal ganglia disease, biotin-thiamine responsive.",
"acronym": "BBTGD.",
"accession": "DI-01284",
"synonyms": "BBGD.; Biotin-responsive basal ganglia disease.; BTBGD.; Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type.; Thiamine-responsive encephalopathy.; THMD2.; ",
"cross_references": "MeSH; D001480.",
"definition": "An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 91.",
"acronym": "RP91.",
"accession": "DI-06234",
"synonyms": "BCAMD.; Macular dystrophy, benign concentric annular.; Macular dystrophy, concentric annular.; MCDCA.; ",
"cross_references": "MeSH; D012174.",
"definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP91 is an autosomal dominant form with bone-spicule pigmentation, attenuation of retinal vessels, and optic disk pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Blepharocheilodontic syndrome 1.",
"acronym": "BCDS1.",
"accession": "DI-05103",
"synonyms": "BCDS.; BCD SYNDROME.; Blepharocheilodontic syndrome.; Clefting, ectropion, and conical teeth.; Ectropion, inferior, with cleft lip and/or palate.; Elschnig syndrome.; Lagophthalmia with bilateral cleft lip and palate.; ",
"cross_references": "MeSH; D014071.",
"definition": "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Leukemia, chronic lymphocytic.",
"acronym": "CLL.",
"accession": "DI-01350",
"synonyms": "B-cell chronic lymphocytic Leukemia.; Chronic lymphatic leukemia.; Chronic lymphoid leukemia.; ",
"cross_references": "MeSH; D015451.",
"definition": "A chronic leukemia in which functionally incompetent B-lymphocytes progressively accumulate in the bone marrow, blood, and lymphoid tissues. The clinical evolution of the disorder is heterogeneous, with some patients having indolent disease and others having aggressive disease and short survival. ",
"keywords": null
},
{
"identifier": "Epidermolytic hyperkeratosis 1.",
"acronym": "EHK1.",
"accession": "DI-00207",
"synonyms": "BCIE.; BIE.; Bullous congenital ichthyosiform erythroderma.; Bullous erythroderma ichthyosiformis congenita of Brocq.; Bullous ichthyosiform erythroderma.; Epidermolytic hyperkeratosis late-onset.; ",
"cross_references": "MeSH; D017488.",
"definition": "A skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK1 inheritance is autosomal dominant or autosomal recessive. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Maple syrup urine disease 1A.",
"acronym": "MSUD1A.",
"accession": "DI-01936",
"synonyms": "BCKD deficiency.; Branched-chain alpha-keto acid dehydrogenase deficiency.; Branched-chain ketoaciduria.; Classic maple syrup urine disease.; Intermediate maple syrup urine disease.; Intermittent maple syrup urine disease.; Keto acid decarboxylase deficiency.; Maple syrup urine disease type IA.; MSUD type IA.; Thiamine-responsive maple syrup urine disease.; ",
"cross_references": "MeSH; D008375.",
"definition": "A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. ",
"keywords": null
},
{
"identifier": "Hailey-Hailey disease.",
"acronym": "HHD.",
"accession": "DI-01693",
"synonyms": "BCPM.; Benign chronic pemphigus.; Pemphigus, benign familial.; ",
"cross_references": "MeSH; D016506.",
"definition": "An autosomal dominant cutaneous disorder characterized by erythema, skin blisters and erosions, and suprabasal acantholysis. Blisters and erosions most often affect the neck, armpits, skin folds, groin and genitals. ",
"keywords": null
},
{
"identifier": "Brachydactyly B1.",
"acronym": "BDB1.",
"accession": "DI-00196",
"synonyms": "BDB.; Brachydactyly type B.; ",
"cross_references": "MeSH; D059327.",
"definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature. ",
"keywords": null
},
{
"identifier": "Brachydactyly E1.",
"acronym": "BDE1.",
"accession": "DI-00199",
"synonyms": "BDE.; Brachydactyly type E.; ",
"cross_references": "MeSH; D059327.",
"definition": "A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. Brachydactyly type E1 is characterized by shortening limited to fourth metacarpals and/or metatarsals. ",
"keywords": null
},
{
"identifier": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma.",
"acronym": "DMSMFH.",
"accession": "DI-03464",
"synonyms": "BDMF.; Bone dysplasia with malignant fibrous histiocytoma.; Bone dysplasia with medullary fibrosarcoma.; DMS-MFH.; Limb-girdle myopathy with bone fragility.; ",
"cross_references": "MeSH; D051677.",
"definition": "An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. ",
"keywords": null
},
{
"identifier": "Platelet glycoprotein IV deficiency.",
"acronym": "PG4D.",
"accession": "DI-02170",
"synonyms": "BDPLT10.; Bleeding disorder platelet-type 10.; CD36 deficiency.; ",
"cross_references": "MeSH; D013921.",
"definition": "A disorder characterized by macrothrombocytopenia without notable hemostatic problems and bleeding tendency. Platelet glycoprotein IV deficiency can be divided into 2 subgroups. The type I phenotype is characterized by platelets and monocytes/macrophages exhibiting complete CD36 deficiency. The type II phenotype lacks the surface expression of CD36 in platelets, but expression in monocytes/macrophages is near normal. ",
"keywords": null
}
]
}