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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1540&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1500&ordering=synonyms",
"results": [
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 15.",
"acronym": "GPIBD15.",
"accession": "DI-05160",
"synonyms": "Developmental delay, epilepsy, cerebellar atrophy, and osteopenia.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. ",
"keywords": null
},
{
"identifier": "Chung-Jansen syndrome.",
"acronym": "CHUJANS.",
"accession": "DI-05259",
"synonyms": "Developmental delay, intellectual disability, obesity, and dysmorphic features.; DIDOD.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Rajab interstitial lung disease with brain calcifications 1.",
"acronym": "RILDBC1.",
"accession": "DI-05269",
"synonyms": "Developmental delay, small stature, microcephaly, and brain calcifications.; NEDBLLA.; Neurodevelopmental disorder with brain, liver, and lung abnormalities.; Rajab syndrome.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination. ",
"keywords": null
},
{
"identifier": "DEEAH syndrome.",
"acronym": "DEEAH.",
"accession": "DI-05908",
"synonyms": "Developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by moderate to severe global developmental delay, impaired intellectual development, poor or absent speech, and endocrine, pancreatic exocrine and autonomic dysfunction, as well as hematologic abnormalities. Additional features include facial dysmorphism, seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "DEGCAGS syndrome.",
"acronym": "DEGCAGS.",
"accession": "DI-06209",
"synonyms": "Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, coarse facial features, and abnormalities of the cardiovascular, gastrointestinal, genitourinary and skeletal system. Other common features included anemia or pancytopenia, immunodeficiency and recurrent infections, and sensorineural hearing impairment. Death in childhood may occur. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Kartagener syndrome.",
"acronym": "KTGS.",
"accession": "DI-00623",
"synonyms": "Dextrocardia-bronchiectasis-sinusitis syndrome.; Immotile cilia syndrome Kartagener type.; Primary ciliary dyskinesia Kartagener type.; Siewert syndrome.; ",
"cross_references": "MeSH; D007619.",
"definition": "An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Heterotaxy, visceral, 1, X-linked.",
"acronym": "HTX1.",
"accession": "DI-02463",
"synonyms": "Dextrocardia with other cardiac malformations.; Laterality X-linked.; Situs inversus with complex cardiac defects and splenic defects X-linked.; ",
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1.",
"acronym": "DFNA39/DGI1.",
"accession": "DI-01206",
"synonyms": "DFNA39/dentinogenesis imperfecta 1 syndrome.; DFNA39/DGI1 syndrome.; DGI1/DFNA39 syndrome.; ",
"cross_references": "MeSH; D006319.",
"definition": "A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 59.",
"acronym": "DFNB59.",
"accession": "DI-00877",
"synonyms": "DFNB59 auditory neuropathy.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Hyperoxaluria primary 2.",
"acronym": "HP2.",
"accession": "DI-01779",
"synonyms": "D-glycerate dehydrogenase deficiency.; Glyceric aciduria.; Glyoxylate reductase/hydroxypyruvate reductase deficiency.; Hyperoxaluria primary type II.; L-glyceric aciduria.; Oxalosis II.; PH2.; Primary hyperoxaluria type II.; ",
"cross_references": "MeSH; D006960.",
"definition": "A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease. ",
"keywords": null
},
{
"identifier": "D-glyceric aciduria.",
"acronym": "D-GA.",
"accession": "DI-03131",
"synonyms": "D-glyceric acidemia.; Glycerate kinase deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe intellectual disability and early death, to milder manifestations with only speech delay or even normal development. ",
"keywords": null
},
{
"identifier": "Megaloblastic anemia due to dihydrofolate reductase deficiency.",
"acronym": "DHFRD.",
"accession": "DI-03110",
"synonyms": "DHFR deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. ",
"keywords": null
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 10.",
"acronym": "HMND10.",
"accession": "DI-06528",
"synonyms": "DHMN10.; HMN10.; Neuronopathy, distal hereditary motor, 10.; Neuronopathy, distal hereditary motor, type X.; Neuropathy, distal hereditary motor, type X.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND10 is characterized by length- dependent motor neuropathy primarily affecting the lower limbs, and onset of distal muscle weakness and atrophy in early childhood resulting in walking difficulties and gait abnormalities. Some affected individuals have pyramidal signs, including hyperreflexia. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 3.",
"acronym": "HMND3.",
"accession": "DI-00401",
"synonyms": "dHMN2B.; dHMN II.; Distal hereditary motor neuropathy type IIB.; HMN2B.; HMN IIB.; Neuronopathy, distal hereditary motor, 2B.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 4.",
"acronym": "HMND4.",
"accession": "DI-02769",
"synonyms": "dHMN2C.; dHMN IIC.; Distal hereditary motor neuropathy type IIC.; HMN2C.; HMN IIC.; Neuronopathy, distal hereditary motor, 2C.; Neuropathy, distal hereditary motor, autosomal dominant 4.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 12.",
"acronym": "HMND12.",
"accession": "DI-03508",
"synonyms": "DHMN5B.; DHMN VB.; Distal hereditary motor neuropathy type VB.; DSMAVB.; HMN5B.; HMN VB.; Neuronopathy, distal hereditary motor, 5B.; Spinal muscular atrophy distal type VB.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND12 is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 13.",
"acronym": "HMND13.",
"accession": "DI-05984",
"synonyms": "DHMN5C.; Distal hereditary motor neuronopathy type VC.; Distal spinal muscular atrophy type 5C.; DSMA5C.; DSMAVC.; HMN5C.; Neuronopathy, distal hereditary motor, 5C.; Neuronopathy, distal hereditary motor, type VC.; Spinal muscular atrophy, distal, type 5C.; Spinal muscular atrophy, distal, type VC.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND13 is characterized by distal muscular atrophy primarily affecting the upper limbs. Lower limb involvement may occur at the same time or later. Clinical features are highly variable even within families, and include poor fine hand motor skills, difficulty walking, foot deformities, spasticity and hyperreflexia. Some HMND13 patients show axonal peripheral neuropathy and distal sensory impairment. HMND13 inheritance is autosomal dominant with incomplete penetrance. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 5.",
"acronym": "HMND5.",
"accession": "DI-00402",
"synonyms": "dHMN5.; DHMN5A.; dHMN V.; DHMN VA.; Distal hereditary motor neuronopathy type VA.; Distal hereditary motor neuropathy type V.; Distal hereditary motor neuropathy type VA.; DSMAV.; DSMA-V.; DSMAVA.; HMN5A.; HMN V.; HMN VA.; Neuronopathy, distal hereditary motor, 5A.; Spinal muscular atrophy distal type V.; Spinal muscular atrophy distal type VA.; Spinal muscular atrophy distal with upper limb predominance.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 1.",
"acronym": "HMNR1.",
"accession": "DI-00403",
"synonyms": "dHMN6.; dHMN VI.; Diaphragmatic spinal muscular atrophy.; Distal hereditary motor neuropathy type VI.; DSMA1.; HMN6.; HMN VI.; Neuronopathy, distal hereditary motor, 6.; Severe infantile axonal neuronopathy with respiratory failure.; Severe infantile axonal neuropathy with respiratory failure.; SIANRF.; SMARD1.; Spinal muscular atrophy distal autosomal recessive 1.; Spinal muscular atrophy with respiratory distress 1.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 7.",
"acronym": "HMND7.",
"accession": "DI-03689",
"synonyms": "dHMN7A.; DHMNVP.; Distal hereditary motor neuronopathy type VIIA.; Distal hereditary motor neuropathy type VIIA.; Distal hereditary motor neuropathy with vocal cord paralysis.; Distal spinal muscular atrophy with vocal cord paralysis.; Harper-Young myopathy.; HMN7A.; HMN VIIA.; Neuronopathy, distal hereditary motor, 7A.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND7 is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
}
]
}