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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2080&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2040&ordering=-synonyms",
"results": [
{
"identifier": "Hemolytic uremic syndrome, atypical, 7.",
"acronym": "AHUS7.",
"accession": "DI-03798",
"synonyms": null,
"cross_references": "MeSH; D065766.",
"definition": "An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system. ",
"keywords": "KW-1068:Hemolytic uremic syndrome.; "
},
{
"identifier": "Early-onset hypertension with severe exacerbation in pregnancy.",
"acronym": "EOHSEP.",
"accession": "DI-01513",
"synonyms": null,
"cross_references": "MeSH; D006973.",
"definition": "Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion. ",
"keywords": null
},
{
"identifier": "Ayme-Gripp syndrome.",
"acronym": "AYGRP.",
"accession": "DI-04468",
"synonyms": null,
"cross_references": "MeSH; D019066.",
"definition": "A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Facial paresis, hereditary congenital, 3.",
"acronym": "HCFP3.",
"accession": "DI-03507",
"synonyms": null,
"cross_references": "MeSH; D005158.",
"definition": "A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 19.",
"acronym": "ALS19.",
"accession": "DI-03940",
"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": "Hoxha-Aliu syndrome.",
"acronym": "HXAL.",
"accession": "DI-06816",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by mild intellectual disability, eyelid ptosis, and limb anomalies including brachydactyly, clinodactyly, dysplastic or absent nails, brachytelephalangy, short metacarpals, and toe syndactyly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Azoospermia, obstructive, with nephrolithiasis.",
"acronym": "OAZON.",
"accession": "DI-06054",
"synonyms": null,
"cross_references": "MeSH; D053040.",
"definition": "An X-linked recessive, male infertility disorder characterized by epidydimal obstruction, hypercalciuria and kidney stones. ",
"keywords": null
},
{
"identifier": "Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type.",
"acronym": "ECTD12.",
"accession": "DI-04948",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia 13, hair/tooth type.",
"acronym": "ECTD13.",
"accession": "DI-04968",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.",
"acronym": "ECTD14.",
"accession": "DI-05382",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, and mild facial dysmorphism. Some patients have decreased sweating. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia 15, hypohidrotic/hair type.",
"acronym": "ECTD15.",
"accession": "DI-05636",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD15 is an autosomal recessive form characterized by hypotrichosis and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "B-cell expansion with NFKB and T-cell anergy.",
"acronym": "BENTA.",
"accession": "DI-04476",
"synonyms": null,
"cross_references": "MeSH; D008218.",
"definition": "An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. ",
"keywords": null
},
{
"identifier": "2,4-dienoyl-CoA reductase deficiency.",
"acronym": "DECRD.",
"accession": "DI-04240",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. ",
"keywords": null
},
{
"identifier": "Heterotaxy, visceral, 9, autosomal, with male infertility.",
"acronym": "HTX9.",
"accession": "DI-05875",
"synonyms": null,
"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. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Ectodermal dysplasia 7, hair/nail type.",
"acronym": "ECTD7.",
"accession": "DI-04166",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Ectodermal dysplasia 9, hair/nail type.",
"acronym": "ECTD9.",
"accession": "DI-03620",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia). ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate C.",
"acronym": "CMTDIC.",
"accession": "DI-00265",
"synonyms": null,
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type C is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Heterotaxy, visceral, 8, autosomal.",
"acronym": "HTX8.",
"accession": "DI-04866",
"synonyms": null,
"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. HTX8 inheritance is autosomal recessive. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies.",
"acronym": "EDFAOB.",
"accession": "DI-05728",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A neuroectodermal syndrome characterized by linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Patients show no intellectual or neurologic impairment. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Myopathy, myofibrillar, 11.",
"acronym": "MFM11.",
"accession": "DI-06043",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM11 is an autosomal recessive form characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions. ",
"keywords": "KW-1060:Myofibrillar myopathy.; "
}
]
}