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"count": 6723,
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"results": [
{
"identifier": "Erythrokeratodermia variabilis et progressiva 3.",
"acronym": "EKVP3.",
"accession": "DI-05019",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 4.",
"acronym": "EKVP4.",
"accession": "DI-05020",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 5.",
"acronym": "EKVP5.",
"accession": "DI-05138",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 6.",
"acronym": "EKVP6.",
"accession": "DI-05634",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP6 inheritance is autosomal dominant. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 7.",
"acronym": "EKVP7.",
"accession": "DI-06018",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP7 is an autosomal recessive form characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet, as well as erythematous annular skin lesions. Pruritus, woolly hair, and dystrophic nails may also be present. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Erythropoietic protoporphyria, X-linked dominant.",
"acronym": "XLDPT.",
"accession": "DI-00485",
"synonyms": null,
"cross_references": "MeSH; D046351.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. ",
"keywords": null
},
{
"identifier": "Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia.",
"acronym": "CDLSMD.",
"accession": "DI-05601",
"synonyms": null,
"cross_references": "MeSH; D001847.",
"definition": "A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia. ",
"keywords": null
},
{
"identifier": "Essential hypertension.",
"acronym": "EHT.",
"accession": "DI-02647",
"synonyms": null,
"cross_references": "MeSH; D006973.",
"definition": "A condition in which blood pressure is consistently higher than normal with no identifiable cause. ",
"keywords": null
},
{
"identifier": "Ethylmalonic encephalopathy.",
"acronym": "EE.",
"accession": "DI-01539",
"synonyms": null,
"cross_references": "MedGen; C1865349.",
"definition": "Autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria. ",
"keywords": null
},
{
"identifier": "Exercise intolerance, riboflavin-responsive.",
"acronym": "RREI.",
"accession": "DI-04667",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis.",
"acronym": "EPIDACH.",
"accession": "DI-01540",
"synonyms": null,
"cross_references": "MedGen; C2675184.",
"definition": "Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. ",
"keywords": null
},
{
"identifier": "Fabry disease.",
"acronym": "FD.",
"accession": "DI-01544",
"synonyms": null,
"cross_references": "MedGen; C1970820.",
"definition": "Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. ",
"keywords": null
},
{
"identifier": "Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome.",
"acronym": "FHEIG.",
"accession": "DI-05531",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by delayed motor and intellectual development, poor speech, seizures, generalized hypertrichosis and facial dysmorphic features, including hypotonic facies, bitemporal narrowing, micrognathia, deep-set eyes, bushy eyebrows and long eyelashes, low-set ears, short deep philtrum, gingival overgrowth, prominent upper and lower vermilion, and everted upper lip. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.",
"acronym": "FPVEPD.",
"accession": "DI-05120",
"synonyms": null,
"cross_references": "MeSH; D003389.",
"definition": "An autosomal dominant congenital disorder characterized by non- progressive bilateral facial palsy, velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia and impaired gag reflex, and bilateral ptosis. ",
"keywords": null
},
{
"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": "Facioscapulohumeral muscular dystrophy 3, digenic.",
"acronym": "FSHD3.",
"accession": "DI-06196",
"synonyms": null,
"cross_references": "MeSH; D020391.",
"definition": "A form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. FSHD3 is a digenic form characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease. ",
"keywords": null
},
{
"identifier": "Facioscapulohumeral muscular dystrophy 4, digenic.",
"acronym": "FSHD4.",
"accession": "DI-06197",
"synonyms": null,
"cross_references": "MeSH; D020391.",
"definition": "A digenic form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. With disease progression, other muscles may also become affected. There is significant clinical variability and incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Calcification of joints and arteries.",
"acronym": "CALJA.",
"accession": "DI-03016",
"synonyms": null,
"cross_references": "MeSH; D002114.",
"definition": "A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. ",
"keywords": null
},
{
"identifier": "Familial adenomatous polyposis 3.",
"acronym": "FAP3.",
"accession": "DI-04455",
"synonyms": null,
"cross_references": "MeSH; D018256.",
"definition": "A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. ",
"keywords": null
},
{
"identifier": "Familial adenomatous polyposis 4.",
"acronym": "FAP4.",
"accession": "DI-04840",
"synonyms": null,
"cross_references": "MeSH; D018256.",
"definition": "A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. ",
"keywords": null
}
]
}