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"count": 6723,
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"results": [
{
"identifier": "Spermatogenic failure, X-linked, 7.",
"acronym": "SPGFX7.",
"accession": "DI-06634",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder characterized by a significant reduction in sperm count and motility, and aberrant sperm morphology with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure, X-linked, 8.",
"acronym": "SPGFX8.",
"accession": "DI-06893",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder characterized by a significant reduction in progressive sperm motility, and aberrant sperm morphology. Patient sperm show head and midpiece defects with deformed and detached acrosomes, and flagellar defects. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure Y-linked 2.",
"acronym": "SPGFY2.",
"accession": "DI-02062",
"synonyms": "Azoospermia non-obstructive Y-linked.; Non-obstructive azoospermia and infertility.; Oligospermia non-obstructive Y-linked.; Oligozoospermia non-obstructive Y-linked.; Spermatogenic arrest Y-linked.; Spermatogenic failure nonobstructive Y-linked.; ",
"cross_references": "MeSH; D053713.",
"definition": "A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. ",
"keywords": null
},
{
"identifier": "Spherocytosis 1.",
"acronym": "SPH1.",
"accession": "DI-02321",
"synonyms": "Hereditary spherocytosis type 1.; HS1.; ",
"cross_references": "MeSH; D013103.",
"definition": "A form of spherocytosis, a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH1 is characterized by severe hemolytic anemia. Inheritance can be autosomal dominant or autosomal recessive. Patients with homozygous mutations have a more severe disorder. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Spherocytosis 2.",
"acronym": "SPH2.",
"accession": "DI-02322",
"synonyms": "Hereditary spherocytosis type 2.; HS2.; Spherocytosis, hereditary, 2.; Spherocytosis, type 2, autosomal dominant.; ",
"cross_references": "MeSH; D013103.",
"definition": "An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. ",
"keywords": null
},
{
"identifier": "Spherocytosis 3.",
"acronym": "SPH3.",
"accession": "DI-02323",
"synonyms": "Hereditary spherocytosis type 3.; HS3.; ",
"cross_references": "MedGen; C2678338.",
"definition": "Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Spherocytosis 4.",
"acronym": "SPH4.",
"accession": "DI-02324",
"synonyms": "HS4.; Spherocytosis, hereditary, 4.; Spherocytosis, type 4.; ",
"cross_references": "MeSH; D013103.",
"definition": "An autosomal dominant form of spherocytosis, a group of hematologic disorders characterized by the presence of numerous abnormally shaped erythrocytes which are generally spheroidal. Affected individuals have anemia, jaundice, and splenomegaly. Clinical severity is variable. Some individuals are asymptomatic, whereas others have severe hemolytic anemia requiring erythrocyte transfusion. ",
"keywords": null
},
{
"identifier": "Spherocytosis 5.",
"acronym": "SPH5.",
"accession": "DI-02325",
"synonyms": "Hereditary spherocytosis type 5.; HS5.; ",
"cross_references": "MedGen; C2675192.",
"definition": "Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. ",
"keywords": null
},
{
"identifier": "Spinal and bulbar muscular atrophy X-linked 1.",
"acronym": "SMAX1.",
"accession": "DI-01053",
"synonyms": "Bulbospinal muscular atrophy X-linked.; Bulbospinal neuronopathy X-linked recessive.; KD.; Kennedy disease.; Kennedy spinal and bulbar muscular atrophy.; SBMA.; Spinal and bulbar muscular atrophy.; XBSN.; ",
"cross_references": "MeSH; D014897.",
"definition": "An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy 1.",
"acronym": "SMA1.",
"accession": "DI-01055",
"synonyms": "Infantile muscular atrophy.; Proximal hereditary motor neuropathy type I.; SMA I.; SMA infantile acute form.; Spinal muscular atrophy type I.; Werdnig-Hoffman disease.; ",
"cross_references": "MeSH; D014897.",
"definition": "A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy 2.",
"acronym": "SMA2.",
"accession": "DI-01056",
"synonyms": "SMA II.; Spinal muscular atrophy infantile chronic form.; Spinal muscular atrophy intermediate type.; Spinal muscular atrophy type II.; ",
"cross_references": "MeSH; D014897.",
"definition": "An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy 3.",
"acronym": "SMA3.",
"accession": "DI-01057",
"synonyms": "Kugelberg-Welander syndrome.; KWS.; SMA III.; Spinal muscular atrophy mild childhood and adolescent form.; Spinal muscular atrophy type III.; Wohlfart-Kugelberg-Welander disease.; ",
"cross_references": "MeSH; D014897.",
"definition": "An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy 4.",
"acronym": "SMA4.",
"accession": "DI-01058",
"synonyms": "SMA IV.; Spinal muscular atrophy adult form.; Spinal muscular atrophy proximal adult autosomal recessive.; Spinal muscular atrophy type IV.; ",
"cross_references": "MeSH; D009134.",
"definition": "An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy, infantile, James type.",
"acronym": "SMAJI.",
"accession": "DI-05926",
"synonyms": null,
"cross_references": "MeSH; D009134.",
"definition": "An autosomal dominant form of spinal muscular atrophy, a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAJI is a severe disease characterized by hypotonia manifesting in the first weeks or months of life, delayed motor development, motor regression, and muscle weakness and atrophy primarily affecting distal muscles. Additional variable features include feeding difficulties, poor overall growth, foot deformities, kyphosis, hyperlordosis, scoliosis, vocal cord dysfunction, and respiratory insufficiency. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy, Jokela type.",
"acronym": "SMAJ.",
"accession": "DI-04345",
"synonyms": null,
"cross_references": "MeSH; D009134.",
"definition": "An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant.",
"acronym": "SMALED1.",
"accession": "DI-03433",
"synonyms": "Autosomal dominant childhood proximal spinal muscular atrophy.; Autosomal dominant juvenile proximal spinal muscular atrophy.; Autosomal dominant Kugelberg-Welander syndrome.; SMA-LED.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant.",
"acronym": "SMALED2A.",
"accession": "DI-03814",
"synonyms": null,
"cross_references": "MeSH; D009134.",
"definition": "An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant.",
"acronym": "SMALED2B.",
"accession": "DI-05467",
"synonyms": "Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.; ",
"cross_references": "MeSH; D009134.",
"definition": "An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy, proximal, adult, autosomal dominant.",
"acronym": "SMAPAD.",
"accession": "DI-01054",
"synonyms": "Finkel late-adult type SMA.; ",
"cross_references": "MeSH; D009134.",
"definition": "A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Spinal muscular atrophy with congenital bone fractures 1.",
"acronym": "SMABF1.",
"accession": "DI-04681",
"synonyms": "Spinal muscular atrophy, type I, with congenital bone fractures.; ",
"cross_references": "MeSH; D009134.",
"definition": "An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}