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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3620&ordering=synonyms",
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"results": [
{
"identifier": "Diamond-Blackfan anemia 12.",
"acronym": "DBA12.",
"accession": "DI-03972",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 11.",
"acronym": "DBA11.",
"accession": "DI-03608",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diamond-Blackfan anemia 10.",
"acronym": "DBA10.",
"accession": "DI-02685",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diarrhea 13.",
"acronym": "DIAR13.",
"accession": "DI-06658",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "An autosomal recessive disorder characterized by neonatal onset of recurrent vomiting and diarrhea, leading to severe failure to thrive. ",
"keywords": null
},
{
"identifier": "Diabetes, deafness, developmental delay, and short stature syndrome.",
"acronym": "DDDS.",
"accession": "DI-06812",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive, multisystem disorder characterized by childhood-onset non-autoimmune diabetes mellitus, short stature, bilateral sensorineural deafness, developmental delay, mildly impaired intellectual development, and microcephaly. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; "
},
{
"identifier": "Diabetes mellitus, permanent neonatal, 4.",
"acronym": "PNDM4.",
"accession": "DI-05825",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. PNDM4 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 2.",
"acronym": "ADMIO2.",
"accession": "DI-04749",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome. ",
"keywords": null
},
{
"identifier": "Amyloidosis, hereditary systemic 6.",
"acronym": "AMYLD6.",
"accession": "DI-06896",
"synonyms": null,
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Diabetes mellitus, ketosis-prone.",
"acronym": "KPD.",
"accession": "DI-02784",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Corticosteroid-binding globulin deficiency.",
"acronym": "CBG deficiency.",
"accession": "DI-01433",
"synonyms": null,
"cross_references": "MedGen; C1969107.",
"definition": "Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue. ",
"keywords": null
},
{
"identifier": "Developmental dysplasia of the hip 3.",
"acronym": "DDH3.",
"accession": "DI-06830",
"synonyms": null,
"cross_references": "MeSH; D000082602.",
"definition": "An autosomal dominant form of congenital dysplasia of the hip, a common skeletal anomaly in which the normal seating of the femoral head in the acetabulum is disrupted. Its severity ranges from mild instability of the femoral head with slight capsular laxity, permitting minimal lateral displacement, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. ",
"keywords": null
},
{
"identifier": "Developmental delay, language impairment, and ocular abnormalities.",
"acronym": "DEVLO.",
"accession": "DI-06554",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mild motor delay, mildly impaired intellectual development, and significant speech impairment. Most affected individuals have microcephaly and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures.",
"acronym": "DEDISB.",
"accession": "DI-06472",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mild to moderately impaired intellectual development, language delay, motor deficits, and behavioral abnormalities including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures. More variable features include dysmorphic facial features, mild ocular anomalies, and non-specific findings on brain imaging. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Developmental delay, impaired speech, and behavioral abnormalities.",
"acronym": "DDISBA.",
"accession": "DI-06193",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy.",
"acronym": "DIGFAN.",
"accession": "DI-06005",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by developmental delay, intellectual disability, hypotonia, poor growth, short stature, microcephaly, and variable craniofacial dysmorphism. Patients often present weakness, hyporeflexia, and electrophysiologic abnormalities consistent with an axonal sensorimotor peripheral neuropathy. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. Disease severity is highly variable. ",
"keywords": "KW-0242:Dwarfism.; KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities.",
"acronym": "DEHMBA.",
"accession": "DI-06262",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay, speech delay, mild to severe intellectual disability, hypotonia, musculoskeletal features, and behavioral abnormalities including autistic features. Skeletal anomalies include joint hypermobility, chronic musculoskeletal pain, scoliosis, and pectus defects. Affected individuals also have non-specific and variable dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, hypotonia, and impaired language.",
"acronym": "DEDHIL.",
"accession": "DI-06489",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, language difficulties, hypotonia, and gastrointestinal problems. Brain imaging shows variable structural abnormalities affecting the cerebellum, corpus collosum, and white matter. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 11.",
"acronym": "CLN11.",
"accession": "DI-03493",
"synonyms": null,
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 1.",
"acronym": "ADMIO1.",
"accession": "DI-04194",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; "
},
{
"identifier": "Amyloidosis, hereditary systemic 5.",
"acronym": "AMYLD5.",
"accession": "DI-06895",
"synonyms": null,
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD5 primarily affects the viscera, and the predominant clinical features are renal dysfunction of varying severity, and intra-abdominal bleeding. Inheritance is autosomal dominant. ",
"keywords": "KW-1008:Amyloidosis.; "
}
]
}