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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1820&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1780&ordering=synonyms",
"results": [
{
"identifier": "Aminoacylase-1 deficiency.",
"acronym": "ACY1D.",
"accession": "DI-00095",
"synonyms": "Encephalopathy associated with aminoacylase 1 deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids. ",
"keywords": null
},
{
"identifier": "Urocanase deficiency.",
"acronym": "UROCD.",
"accession": "DI-02405",
"synonyms": "Encephalopathy due to urocanase deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including intellectual disability, ataxia, episodic aggressive behavior or exaggerated affection-seeking. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 4.",
"acronym": "PCH4.",
"accession": "DI-02179",
"synonyms": "Encephalopathy fatal infantile with olivopontocerebellar hypoplasia.; ",
"cross_references": "MeSH; D009849.",
"definition": "A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Pitt-Hopkins syndrome.",
"acronym": "PTHS.",
"accession": "DI-02168",
"synonyms": "Encephalopathy severe epileptic with autonomic dysfunction.; ",
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Insulin-like growth factor 1 resistance.",
"acronym": "IGF1RES.",
"accession": "DI-02747",
"synonyms": "End-organ insensitivity to somatomedin.; IGF1 resistance.; Resistance to insulin-like growth factor I.; Resistance to somatomedin-C.; ",
"cross_references": "MeSH; D006130.",
"definition": "A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels. ",
"keywords": null
},
{
"identifier": "Endosteal hyperostosis, Worth type.",
"acronym": "WENHY.",
"accession": "DI-00450",
"synonyms": "Endosteal hyperostosis autosomal dominant.; Hyperostosis corticalis generalisata benign form of Worth with torus palatinus.; Osteosclerosis autosomal dominant.; Worth syndrome.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal dominant sclerosing bone dysplasia clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and longevity. ",
"keywords": null
},
{
"identifier": "Van Buchem disease.",
"acronym": "VBCH.",
"accession": "DI-01121",
"synonyms": "Endosteal hyperostosis autosomal recessive.; Hyperostosis corticalis generalisata.; Hyperphosphatasemia tarda.; ",
"cross_references": "MeSH; D010009.",
"definition": "VBCH is an autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated. ",
"keywords": null
},
{
"identifier": "Glycogen storage disease 13.",
"acronym": "GSD13.",
"accession": "DI-02013",
"synonyms": "Enolase 3 deficiency.; Enolase-beta deficiency.; Glycogenosis type XIII.; Glycogen storage disease XIII.; GSD XIII.; Muscle-specific enolase-beta deficiency.; ",
"cross_references": "MeSH; D006008.",
"definition": "A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Diarrhea 4, malabsorptive, congenital.",
"acronym": "DIAR4.",
"accession": "DI-01408",
"synonyms": "Enteric anendocrinosis.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. ",
"keywords": null
},
{
"identifier": "Enterokinase deficiency.",
"acronym": "ENTKD.",
"accession": "DI-01528",
"synonyms": "Enteropeptidase deficiency.; ",
"cross_references": "MedGen; C0268416.",
"definition": "Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive. ",
"keywords": null
},
{
"identifier": "Schimmelpenning-Feuerstein-Mims syndrome.",
"acronym": "SFM.",
"accession": "DI-03512",
"synonyms": "Epidermal nevus syndrome.; Jadassohn nevus phakomatosis.; JNP.; Linear sebaceous nevus syndrome.; Nevus sebaceus of Jadassohn.; Organoid nevus phakomatosis.; Schimmelpenning syndrome.; SFM syndrome.; Solomon syndrome.; SS.; ",
"cross_references": "MeSH; D054000.",
"definition": "A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis. ",
"keywords": null
},
{
"identifier": "Epidermolysis bullosa, junctional 1A, intermediate.",
"acronym": "JEB1A.",
"accession": "DI-00502",
"synonyms": "Epidermolysis bullosa atrophicans generalisata mitis.; Epidermolysis bullosa junctionalis Disentis type.; Epidermolysis bullosa junctionalis progressive.; Epidermolysis bullosa junctionalis severe non-lethal.; GABEB.; Generalized atrophic benign epidermolysis bullosa.; Generalized junctional epidermolysis bullosa mitis.; Non-Herlitz junctional epidermolysis bullosa.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1A is an autosomal recessive, non-lethal, adult form characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Transient bullous dermolysis of the newborn.",
"acronym": "TBDN.",
"accession": "DI-01103",
"synonyms": "Epidermolysis bullosa dystrophica dominant neonatal type.; ",
"cross_references": "MeSH; D016108.",
"definition": "TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 4, intermediate.",
"acronym": "JEB4.",
"accession": "DI-06341",
"synonyms": "Epidermolysis bullosa, generalized atrophic benign.; Epidermolysis bullosa, junctional, localisata variant.; Epidermolysis bullosa, junctional 4, non-Herlitz type.; GABEB.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB4 is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. JEB4 patients manifest blisters at birth or shortly afterward. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 2A, intermediate.",
"acronym": "JEB2A.",
"accession": "DI-06337",
"synonyms": "Epidermolysis bullosa, junctional 2A, generalized intermediate.; Epidermolysis bullosa, junctional 2A, non-Herlitz type.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 2B, severe.",
"acronym": "JEB2B.",
"accession": "DI-06338",
"synonyms": "Epidermolysis bullosa, junctional 2B, generalized severe.; Epidermolysis bullosa, junctional 2B, Herlitz type.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2B is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. It belongs to the severe spectrum of junctional epidermolysis bullosa (previously known as generalized severe or Herlitz type), characterized by onset of blistering over large regions of the body at birth or in early infancy. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Other complications can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities, dental enamel defects, and alopecia. Severe, junctional forms are associated with death in the first 6 to 24 months of life. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 3A, intermediate.",
"acronym": "JEB3A.",
"accession": "DI-06340",
"synonyms": "Epidermolysis bullosa, junctional 3A, generalized intermediate.; Epidermolysis bullosa, junctional 3A, non-Herlitz type.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB3A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 3B, severe.",
"acronym": "JEB3B.",
"accession": "DI-06339",
"synonyms": "Epidermolysis bullosa, junctional 3B, generalized severe.; Epidermolysis bullosa, junctional 3B, Herlitz type.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB3B is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. It belongs to the severe spectrum of junctional epidermolysis bullosa (previously known as generalized severe or Herlitz type), characterized by onset of blistering over large regions of the body at birth or in early infancy. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Other complications can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities, dental enamel defects, and alopecia. Severe, junctional forms are associated with death in the first 6 to 24 months of life. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 5A, intermediate.",
"acronym": "JEB5A.",
"accession": "DI-06342",
"synonyms": "Epidermolysis bullosa, junctional 5A, generalized intermediate.; Epidermolysis bullosa, junctional 5A, non-Herlitz type.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB5A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 1B, severe.",
"acronym": "JEB1B.",
"accession": "DI-00457",
"synonyms": "Epidermolysis bullosa, junctional, Herlitz type.; Epidermolysis letalis.; Junctional epidermolysis bullosa gravis.; Junctional epidermolysis bullosa Herlitz-Pearson type.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1B is an autosomal recessive, severe form characterized by bullous lesions appearing at birth, and extensive denudation of skin and mucous membranes that may be hemorrhagic. Death occurs usually within the first six months of life. Occasionally, children survive to teens. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
}
]
}