HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1380&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1340&ordering=-synonyms",
"results": [
{
"identifier": "Ectodermal dysplasia 7, hair/nail type.",
"acronym": "ECTD7.",
"accession": "DI-04166",
"synonyms": null,
"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 such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 6.",
"acronym": "DKCB6.",
"accession": "DI-04424",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Epileptic encephalopathy, infantile or early childhood, 1.",
"acronym": "IECEE1.",
"accession": "DI-05114",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 1.",
"acronym": "DKCB1.",
"accession": "DI-00408",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Brain small vessel disease 3.",
"acronym": "BSVD3.",
"accession": "DI-05511",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 40.",
"acronym": "IMD40.",
"accession": "DI-04461",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation. ",
"keywords": null
},
{
"identifier": "Branched-chain ketoacid dehydrogenase kinase deficiency.",
"acronym": "BCKDKD.",
"accession": "DI-03567",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1269:Autism.; "
},
{
"identifier": "Congenital disorder of glycosylation 1W, autosomal recessive.",
"acronym": "CDG1WAR.",
"accession": "DI-04006",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome.",
"acronym": "BCAHH.",
"accession": "DI-06584",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature. ",
"keywords": "KW-0209:Deafness.; KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.",
"acronym": "PEBEL2.",
"accession": "DI-05478",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Congenital myopathy 2B, severe infantile, autosomal recessive.",
"acronym": "CMYP2B.",
"accession": "DI-06621",
"synonyms": null,
"cross_references": "MeSH; D020512.",
"definition": "An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported. ",
"keywords": null
},
{
"identifier": "Deafness, congenital heart defects, and posterior embryotoxon.",
"acronym": "DCHE.",
"accession": "DI-05252",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Currarino syndrome.",
"acronym": "CURRAS.",
"accession": "DI-01458",
"synonyms": null,
"cross_references": "MedGen; C1867775.",
"definition": "The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 103.",
"acronym": "DFNB103.",
"accession": "DI-04268",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Encephalopathy, acute, infection-induced, 9.",
"acronym": "IIAE9.",
"accession": "DI-05581",
"synonyms": null,
"cross_references": "MeSH; D004684.",
"definition": "An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection- induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 1D.",
"acronym": "ARCL1D.",
"accession": "DI-06874",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1D features include skin laxity, thin and translucent skin with easy bruising, facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations. Skin laxity may progress with age. ",
"keywords": null
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 7.",
"acronym": "EKVP7.",
"accession": "DI-06018",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP7 is an autosomal recessive form characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet, as well as erythematous annular skin lesions. Pruritus, woolly hair, and dystrophic nails may also be present. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 6.",
"acronym": "EPM6.",
"accession": "DI-03161",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Aplasia cutis-enamel dysplasia.",
"acronym": "ACED.",
"accession": "DI-06886",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by congenital absence of a portion of skin of the scalp with or without skull defects, enamel hypoplasia, and neurodevelopmental delay with autism spectrum disorder. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Inflammatory bowel disease 14.",
"acronym": "IBD14.",
"accession": "DI-02656",
"synonyms": null,
"cross_references": "MeSH; D015212.",
"definition": "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ",
"keywords": null
}
]
}