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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6360&ordering=-synonyms",
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"results": [
{
"identifier": "Immunodeficiency, common variable, 5.",
"acronym": "CVID5.",
"accession": "DI-02802",
"synonyms": "Antibody deficiency due to CD20 defect.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 3.",
"acronym": "CVID3.",
"accession": "DI-02800",
"synonyms": "Antibody deficiency due to CD19 defect.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 4.",
"acronym": "CVID4.",
"accession": "DI-02801",
"synonyms": "Antibody deficiency due to BAFFR defect.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Familial cold autoinflammatory syndrome 3.",
"acronym": "FCAS3.",
"accession": "DI-03380",
"synonyms": "Antibody deficiency and immune dysregulation PLACG2-associated.; FACU.; Familial atypical cold urticaria.; PLAID.; ",
"cross_references": "MeSH; D056587.",
"definition": "An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 1.",
"acronym": "ASGD1.",
"accession": "DI-00123",
"synonyms": "Anterior segment mesenchymal dysgenesis.; Anterior segment ocular dysgenesis.; ASMD.; ASOD.; Familial ocular anterior segment mesenchymal dysgenesis.; ",
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ",
"keywords": null
},
{
"identifier": "Axenfeld-Rieger syndrome 3.",
"acronym": "RIEG3.",
"accession": "DI-01266",
"synonyms": "Anterior chamber cleavage syndrome.; Anterior segment mesenchymal dysgenesis.; Axenfeld anomaly.; Axenfeld-Rieger anomaly.; Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss.; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss.; Rieger anomaly.; Rieger syndrome type 3.; ",
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Corneal dystrophy, epithelial basement membrane.",
"acronym": "EBMD.",
"accession": "DI-01535",
"synonyms": "Anterior basement membrane corneal dystrophy.; Cogan corneal dystrophy.; Map-dot-fingerprint type corneal dystrophy.; Microcystic corneal dystrophy.; ",
"cross_references": "MeSH; D003317.",
"definition": "A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Hypogonadotropic hypogonadism 1 with or without anosmia.",
"acronym": "HH1.",
"accession": "DI-00617",
"synonyms": "Anosmic hypogonadism.; Dysplasia olfactogenitalis of De Morsier.; HHA.; Hypogonadotropic hypogonadism and anosmia.; KAL1.; Kallmann syndrome 1.; KMS.; ",
"cross_references": "MeSH; D017436.",
"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": "46,XY sex reversal 11.",
"acronym": "SRXY11.",
"accession": "DI-05803",
"synonyms": "Anorchia, familial.; Testicular regression, embryonic.; Testicular regression syndrome.; TRS.; XY gonadal agenesis/dysgenesis syndrome.; ",
"cross_references": "MeSH; D006061.",
"definition": "An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia. ",
"keywords": null
},
{
"identifier": "Ophthalmoacromelic syndrome.",
"acronym": "OAS.",
"accession": "DI-03004",
"synonyms": "Anophthalmia-syndactyly.; Microphthalmia with limb anomalies.; MLA.; Waardenburg anophthalmia syndrome.; ",
"cross_references": "MeSH; D008850.",
"definition": "A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 9.",
"acronym": "MCOPS9.",
"accession": "DI-00767",
"synonyms": "Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm.; Anophthalmia/microphthalmia and pulmonary hypoplasia.; Matthew-Wood syndrome.; PDAC.; PMD.; Pulmonary agenesis, microphthalmia, and diaphragmatic defect.; Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect.; Spear syndrome.; ",
"cross_references": "MeSH; D008850.",
"definition": "A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 1.",
"acronym": "MCOPS1.",
"accession": "DI-04013",
"synonyms": "ANOP1.; Lenz dysplasia.; Lenz microphthalmia syndrome.; MAA.; MCOPS4.; Microphthalmia, syndromic 4.; Microphthalmia or anophthalmos with associated anomalies.; ",
"cross_references": "MeSH; D008850.",
"definition": "A rare syndrome defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Anomalies of the digits, teeth, and ears are hallmarks of MCOPS1. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected MCOPS1 individuals. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Nail disorder, non-syndromic congenital, 4.",
"acronym": "NDNC4.",
"accession": "DI-01185",
"synonyms": "Anonychia/hyponychia congenita.; Anonychia congenita totalis.; Hyponychia congenita.; ",
"cross_references": "MeSH; D009260.",
"definition": "A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies. ",
"keywords": null
},
{
"identifier": "Dentin dysplasia 2.",
"acronym": "DTDP2.",
"accession": "DI-01477",
"synonyms": "Anomalous dysplasia of dentin.; Coronal dentin dysplasia.; Dentin dysplasia Shields type II.; Pulpal dysplasia.; Pulp stones.; ",
"cross_references": "MeSH; D003805.",
"definition": "A dental defect in which the deciduous teeth are opalescent. The permanent teeth are of normal shape, form, and color in most cases. The root length is normal. On radiographs, the pulp chambers of permanent teeth are obliterated, have a thistle-tube deformity and contain pulp stones. ",
"keywords": null
},
{
"identifier": "Stapes ankylosis with broad thumb and toes.",
"acronym": "SABTS.",
"accession": "DI-02339",
"synonyms": "Ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly.; Stapes ankylosis syndrome without symphalangism.; Teunissen-Cremers syndrome.; ",
"cross_references": "MeSH; D009140.",
"definition": "An autosomal dominant disorder characterized by hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism. ",
"keywords": null
},
{
"identifier": "Spondyloarthropathy 1.",
"acronym": "SPDA1.",
"accession": "DI-02696",
"synonyms": "Ankylosing spondylarthritis.; Ankylosing spondylitis.; Bechterew Syndrome.; Marie-Strumpell spondylitis.; Psoriatic arthritis.; Reactive arthritis.; Reiter syndrome.; Rheumatoid spondylitis.; Spondylarthritis ankylopoietica.; Spondylitis ankylosans.; ",
"cross_references": "MeSH; D016918.",
"definition": "A chronic rheumatic disease with multifactorial inheritance. It includes a spectrum of related disorders comprising ankylosing spondylitis, a subset of psoriatic arthritis, reactive arthritis (e.g. Reiter syndrome), arthritis associated with inflammatory bowel disease and undifferentiated spondyloarthropathy. These disorders may occur simultaneously or sequentially in the same patient, probably representing various phenotypic expressions of the same disease. Ankylosing spondylitis is the form of rheumatoid arthritis affecting the spine and is considered the prototype of seronegative spondyloarthropathies. It produces pain and stiffness as a result of inflammation of the sacroiliac, intervertebral, and costovertebral joints. ",
"keywords": null
},
{
"identifier": "Cryptophthalmos, unilateral or bilateral, isolated.",
"acronym": "CRYPTOP.",
"accession": "DI-05544",
"synonyms": "Ankyloblepharon, simple.; cryptophthalmos with microphthalmia and Peters anomaly.; ",
"cross_references": "MeSH; D005141.",
"definition": "An autosomal dominant, rare condition characterized by congenital eyelid malformation with an underlying malformed eye. It can be bilateral or unilateral and is classified into complete (typical), incomplete (atypical) and abortive (congenital symblepharon) forms. The skin of patients with complete cryptophthalmos extends uninterrupted from the forehead to the cheek, whereas incomplete cryptophthalmos exists when there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form. ",
"keywords": null
},
{
"identifier": "Gillespie syndrome.",
"acronym": "GLSP.",
"accession": "DI-01661",
"synonyms": "Aniridia, cerebellar ataxia and mental deficiency.; ",
"cross_references": "MeSH; D015783.",
"definition": "A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Rapp-Hodgkin syndrome.",
"acronym": "RHS.",
"accession": "DI-00428",
"synonyms": "Anhidrotic ectodermal dysplasia with cleft lip/palate.; Ectodermal dysplasia, Rapp-Hodgkin type.; EDRH.; Rapp-Hodgkin ectodermal dysplasia.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow- growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. RHS inheritance is autosomal dominant. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Anhidrosis, isolated, with normal sweat glands.",
"acronym": "ANHD.",
"accession": "DI-04405",
"synonyms": "Anhidrosis, familial generalized, with normal sweat glands.; Dann-Epstein-Sohar syndrome.; ",
"cross_references": "MeSH; D007007.",
"definition": "An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal. ",
"keywords": null
}
]
}