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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=160&ordering=-synonyms",
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"results": [
{
"identifier": "Amyotrophic lateral sclerosis 27, juvenile.",
"acronym": "ALS27.",
"accession": "DI-06629",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS27 is an autosomal dominant form manifesting as toe walking and gait abnormalities in early childhood. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Agenesis of the corpus callosum, X-linked, partial.",
"acronym": "ACCPX.",
"accession": "DI-02143",
"synonyms": null,
"cross_references": "MeSH; D055673.",
"definition": "A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. ",
"keywords": null
},
{
"identifier": "Anemia, sideroblastic, 4.",
"acronym": "SIDBA4.",
"accession": "DI-04677",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families. ",
"keywords": null
},
{
"identifier": "Alopecia-intellectual disability syndrome 4.",
"acronym": "APMR4.",
"accession": "DI-05812",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. ",
"keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Acro-dermato-ungual-lacrimal-tooth syndrome.",
"acronym": "ADULT syndrome.",
"accession": "DI-00028",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 20.",
"acronym": "ALS20.",
"accession": "DI-03881",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome.",
"acronym": "PAPPAS.",
"accession": "DI-05747",
"synonyms": null,
"cross_references": "MeSH; D004480.",
"definition": "An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. ",
"keywords": null
},
{
"identifier": "Alazami-Yuan syndrome.",
"acronym": "ALYUS.",
"accession": "DI-04825",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Acrocapitofemoral dysplasia.",
"acronym": "ACFD.",
"accession": "DI-00026",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles. ",
"keywords": null
},
{
"identifier": "Angioedema, hereditary, 6.",
"acronym": "HAE6.",
"accession": "DI-06126",
"synonyms": null,
"cross_references": "MeSH; D054179.",
"definition": "A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE6 is an autosomal dominant form with onset in adulthood. ",
"keywords": null
},
{
"identifier": "Acrodermatitis enteropathica, zinc-deficiency type.",
"acronym": "AEZ.",
"accession": "DI-00027",
"synonyms": null,
"cross_references": "MeSH; D000169.",
"definition": "A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. ",
"keywords": null
},
{
"identifier": "Aicardi-Goutieres syndrome 7.",
"acronym": "AGS7.",
"accession": "DI-04126",
"synonyms": null,
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 8.",
"acronym": "AGS8.",
"accession": "DI-06175",
"synonyms": null,
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. AGS8 inheritance is autosomal recessive. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia.",
"acronym": "ALS12.",
"accession": "DI-02705",
"synonyms": null,
"cross_references": "MeSH; D057180.",
"definition": "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Al-Gazali syndrome.",
"acronym": "ALGAZ.",
"accession": "DI-05819",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Acrodysostosis 2, with or without hormone resistance.",
"acronym": "ACRDYS2.",
"accession": "DI-03460",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. ",
"keywords": null
},
{
"identifier": "Al-Raqad syndrome.",
"acronym": "ARS.",
"accession": "DI-04480",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Alacrima, achalasia, and impaired intellectual development syndrome.",
"acronym": "AAMR.",
"accession": "DI-03937",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Acrofacial dysostosis, Cincinnati type.",
"acronym": "AFDCIN.",
"accession": "DI-04483",
"synonyms": null,
"cross_references": "MeSH; D008342.",
"definition": "A form of acrofacial dysostosis, a group of disorders characterized by malformations of the craniofacial skeleton and, in some patients, the limbs. AFDCIN patients may also have structural cardiac defects and neurologic abnormalities including developmental delay, hypotonia, motor delay and seizures. AFDCIN inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Atrial septal defect 4.",
"acronym": "ASD4.",
"accession": "DI-00152",
"synonyms": null,
"cross_references": "MeSH; D006344.",
"definition": "A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. ",
"keywords": "KW-0976:Atrial septal defect.; "
}
]
}