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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4840&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4800&ordering=identifier",
"results": [
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 14.",
"acronym": "HMND14.",
"accession": "DI-00404",
"synonyms": "dHMN7B.; Distal hereditary motor neuropathy type VIIB.; Distal hereditary motor neuropathy with vocal cord paralysis type VIIB.; HMN7B.; HMN VIIB.; Lower motor neuron disease dynactin type.; Neuronopathy, distal hereditary motor, 7B.; PLMND.; Progressive lower motor neuron disease.; ",
"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 2.",
"acronym": "HMND2.",
"accession": "DI-00400",
"synonyms": "Charcot-Marie-Tooth disease spinal IIA.; dHMN2A.; Distal hereditary motor neuropathy type IIA.; HMN2A.; HMN IIA.; Neuronopathy, distal hereditary motor, 2A.; Spinal muscular atrophy distal adult autosomal dominant IIA.; ",
"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 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 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 dominant 6.",
"acronym": "HMND6.",
"accession": "DI-03987",
"synonyms": "Autosomal dominant spinal muscular atrophy distal calf-predominant.; dHMN2D.; dHMN IID.; Distal hereditary motor neuropathy type IID.; HMN2D.; HMN IID.; Neuronopathy, distal hereditary motor, 2D.; ",
"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.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal dominant 8.",
"acronym": "HMND8.",
"accession": "DI-02688",
"synonyms": "DHMN8.; Distal spinal muscular atrophy, congenital non-progressive.; HMN8.; Neuronopathy, distal hereditary motor, 8.; Neuropathy, distal hereditary motor, type VIII.; Spinal muscular atrophy congenital benign with contractures.; ",
"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 9.",
"acronym": "HMND9.",
"accession": "DI-05119",
"synonyms": "DHMN9.; HMN9.; Neuronopathy, distal hereditary motor, 9.; Neuronopathy, distal hereditary motor, type IX.; Neuropathy, distal hereditary motor, type IX.; ",
"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. HMND9 is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and 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 recessive 10.",
"acronym": "HMNR10.",
"accession": "DI-06778",
"synonyms": "Neuropathy, distal hereditary motor, autosomal recessive 10.; VRK1-related motor neuron disease.; ",
"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. HMNR10 is a slowly progressive form characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs, and resulting in gait abnormalities. Upper limb involvement is seen in some patients. HMNR10 has mostly juvenile or adult onset, although symptoms may manifest in infancy or childhood in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 2.",
"acronym": "HMNR2.",
"accession": "DI-04545",
"synonyms": "Distal spinal muscular atrophy, autosomal recessive, 2.; DSMA2.; Hereditary motor neuropathy, Jerash type.; HMNJ.; Motor neuropathy, distal, Jerash type.; Neuronopathy, distal hereditary motor, Jerash type.; Neuropathy, distal hereditary motor, Jerash type.; Spinal muscular atrophy, Jerash type.; ",
"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. HMNR2 is characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 4.",
"acronym": "HMNR4.",
"accession": "DI-00405",
"synonyms": "Distal spinal muscular atrophy, autosomal recessive, 4.; DSMA4.; Neuropathy, distal hereditary motor, autosomal recessive 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. HMNR4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 5.",
"acronym": "HMNR5.",
"accession": "DI-03602",
"synonyms": "Distal spinal muscular atrophy, autosomal recessive, 5.; DSMA5.; Neuropathy, distal hereditary motor, autosomal recessive 5.; ",
"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. HMNR5 is characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 6.",
"acronym": "HMNR6.",
"accession": "DI-06488",
"synonyms": "Distal spinal muscular atrophy, autosomal recessive, 6.; DSMA6.; Neuropathy, distal hereditary motor, autosomal recessive 6.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of distal spinal muscular atrophy, 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 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. HMNR6 is characterized by onset of distal muscle weakness in early infancy. Affected individuals often present at birth with distal joint contractures or foot deformities and show delayed motor development, often with inability to walk or frequent falls. Patients often show respiratory distress or diaphragmatic palsy. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 8.",
"acronym": "HMNR8.",
"accession": "DI-05855",
"synonyms": "SORDD.; ",
"cross_references": "MeSH; D009468.",
"definition": "An autosomal recessive disorder characterized by motor axonal neuropathy, slowly progressive distal muscle weakness mainly affecting the lower limbs, difficulty walking, and increased serum sorbitol. Additional variable features are distal sensory impairment, upper limb tremor, scoliosis, and mild hearing loss. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, autosomal recessive 9.",
"acronym": "HMNR9.",
"accession": "DI-06769",
"synonyms": "Neuropathy, distal hereditary motor, autosomal recessive 9.; ",
"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. HMNR9 is a slowly progressive form characterized by juvenile onset of distal muscle weakness and atrophy particularly affecting the lower limbs, although most patients also have upper limb involvement. Additional features include pes cavus, foot drop, and inability to walk on the heels or tiptoes. Some patients may have mild sensory abnormalities or pyramidal signs. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuronopathy, distal hereditary motor, X-linked.",
"acronym": "HMNX.",
"accession": "DI-02799",
"synonyms": "Distal spinal muscular atrophy, X-linked, 3.; DSMAX.; Neuropathy, distal hereditary motor, X-linked.; SMAX3.; Spinal muscular atrophy distal X-linked recessive.; ",
"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, hereditary motor, autosomal recessive 7.",
"acronym": "HMNR7.",
"accession": "DI-06035",
"synonyms": "HMNMYO.; Neuropathy, hereditary motor, autosomal recessive 7.; Neuropathy, hereditary motor, with myopathic features.; ",
"cross_references": "MeSH; D009468.",
"definition": "An autosomal recessive, neuromyopathic disorder that manifests in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Affected individuals have difficulty climbing stairs and problems standing on the heels. Most patients have foot deformities, and some may have leg muscle atrophy. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Neuroocular syndrome 1.",
"acronym": "NOC1.",
"accession": "DI-06229",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant form of neuroocular syndrome, a group of disorders characterized by developmental delay, impaired intellectual development and ocular anomalies as primary findings. Variable eye abnormalities include anophthalmia, microphthalmia, and coloboma. Other common features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}