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"count": 6723,
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"results": [
{
"identifier": "Meier-Gorlin syndrome 8.",
"acronym": "MGORS8.",
"accession": "DI-05038",
"synonyms": null,
"cross_references": "MeSH; D008844.",
"definition": "A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS8 inheritance is autosomal recessive. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Melanocytic nevus syndrome, congenital.",
"acronym": "CMNS.",
"accession": "DI-04099",
"synonyms": "Giant congenital pigmented nevus.; Giant pigmented hairy nevus.; GPHN.; Pigmented moles.; ",
"cross_references": "MeSH; D009508.",
"definition": "A syndrome characterized by congenital pigmentary skin lesions which can occur at any site and can cover most of the body surface. These lesions may or may not be hairy. Congenital melanocytic nevi are associated with neuromelanosis (the presence of melanin-producing cells within the brain parenchyma or leptomeninges). Less commonly they are associated with malignant melanoma in childhood, both in the skin and the central nervous system. CMNS patients also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip. ",
"keywords": null
},
{
"identifier": "Melanoma-astrocytoma syndrome.",
"acronym": "MASTS.",
"accession": "DI-01961",
"synonyms": null,
"cross_references": "MedGen; C1835042.",
"definition": "Characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 2.",
"acronym": "CMM2.",
"accession": "DI-01459",
"synonyms": "Cutaneous malignant melanoma 2.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 3.",
"acronym": "CMM3.",
"accession": "DI-01460",
"synonyms": "Cutaneous malignant melanoma 3.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 5.",
"acronym": "CMM5.",
"accession": "DI-02516",
"synonyms": "Cutaneous malignant melanoma 5.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 6.",
"acronym": "CMM6.",
"accession": "DI-03126",
"synonyms": "Cutaneous malignant melanoma 6.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 8.",
"acronym": "CMM8.",
"accession": "DI-03341",
"synonyms": "Cutaneous malignant melanoma 8.; Susceptibility to melanoma and renal cell carcinoma.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 9.",
"acronym": "CMM9.",
"accession": "DI-03701",
"synonyms": "Cutaneous malignant melanoma 9.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, uveal, 1.",
"acronym": "UVM1.",
"accession": "DI-06493",
"synonyms": null,
"cross_references": "MeSH; D008545.",
"definition": "Most common intraocular malignancy, arising from melanocytes in the iris, ciliary body, or choroid. Metastases develop in more than 30% of case patients, almost invariably in the liver, with poor prognosis. ",
"keywords": null
},
{
"identifier": "Melanoma, uveal, 2.",
"acronym": "UVM2.",
"accession": "DI-06494",
"synonyms": null,
"cross_references": "MeSH; D008545.",
"definition": "Most common intraocular malignancy, arising from melanocytes in the iris, ciliary body, or choroid. Metastases develop in more than 30% of case patients, almost invariably in the liver, with poor prognosis. ",
"keywords": null
},
{
"identifier": "Melanosis, neurocutaneous.",
"acronym": "NCMS.",
"accession": "DI-04100",
"synonyms": "Neuromelanosis.; ",
"cross_references": "MeSH; D020752.",
"definition": "A rare congenital disease characterized by the presence of giant or multiple melanocytic nevi on the skin, foci of melanin-producing cells within the brain parenchyma, and infiltration of leptomeninges by abnormal melanin deposits. Neurologic abnormalities include seizures, hydrocephalus, arachnoid cysts, tumors, and syringomyelia. Some patients may develop malignant melanoma. ",
"keywords": null
},
{
"identifier": "Melnick-Needles syndrome.",
"acronym": "MNS.",
"accession": "DI-01962",
"synonyms": null,
"cross_references": "MedGen; C0025237.",
"definition": "Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. ",
"keywords": null
},
{
"identifier": "Melorheostosis, isolated.",
"acronym": "MEL.",
"accession": "DI-01963",
"synonyms": null,
"cross_references": "MeSH; D008557.",
"definition": "A sclerosing bone disorder characterized by hyperostosis of the cortex of tubular bones, frequently involving one limb. The lesions may be accompanied by abnormalities of adjacent soft tissue, joint contractures, sclerodermatous skin lesions, muscle atrophy, or hemangioma. ",
"keywords": null
},
{
"identifier": "MEND syndrome.",
"acronym": "MEND.",
"accession": "DI-04527",
"synonyms": "Male EBP disorder with neurological defects.; ",
"cross_references": "MeSH; D043202.",
"definition": "An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities. ",
"keywords": null
},
{
"identifier": "Meningioma.",
"acronym": "MNGMA.",
"accession": "DI-04248",
"synonyms": "Familial meningioma.; ",
"cross_references": "MeSH; D008579.",
"definition": "A common neoplasm of the central nervous system derived from arachnoidal cells. The majority of meningiomas are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Most cases are sporadic. Familial occurrence of meningioma is rare. ",
"keywords": null
},
{
"identifier": "Menke-Hennekam syndrome 1.",
"acronym": "MKHK1.",
"accession": "DI-05487",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Menke-Hennekam syndrome 2.",
"acronym": "MKHK2.",
"accession": "DI-05488",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Menkes disease.",
"acronym": "MNK.",
"accession": "DI-00706",
"synonyms": "Kinky hair disease.; Menkes syndrome.; Steely hair disease.; ",
"cross_references": "MeSH; D007706.",
"definition": "An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Merosin-deficient congenital muscular dystrophy 1A.",
"acronym": "MDC1A.",
"accession": "DI-01969",
"synonyms": null,
"cross_references": "MedGen; C1842898.",
"definition": "Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI. ",
"keywords": null
}
]
}