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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4080&ordering=-synonyms",
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"results": [
{
"identifier": "Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency.",
"acronym": "MMAM.",
"accession": "DI-00749",
"synonyms": "Methylmalonicaciduria due to methylmalonyl-CoA mutase deficiency.; Methylmalonic aciduria type mut.; Methylmalonicaciduria vitamin B12 unresponsive.; ",
"cross_references": "MeSH; D008661.",
"definition": "An often fatal disorder of organic acid metabolism. Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM is unresponsive to vitamin B12 therapy. ",
"keywords": null
},
{
"identifier": "Methylmalonic aciduria, transient, due to transcobalamin receptor defect.",
"acronym": "MMATC.",
"accession": "DI-02979",
"synonyms": "Methylmalonic acidemia TCblR type.; Methylmalonic aciduria due to transcobalamin receptor defect.; Methylmalonic aciduria type TCblR.; ",
"cross_references": "MeSH; D008661.",
"definition": "A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin. ",
"keywords": null
},
{
"identifier": "Methylmalonic aciduria and homocystinuria, cblC type.",
"acronym": "MAHCC.",
"accession": "DI-00744",
"synonyms": "Methylmalonic acidemia and homocystinuria cblC type.; Methylmalonic aciduria and homocystinuria vitamin B12-responsive.; Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. ",
"keywords": null
},
{
"identifier": "Methemoglobinemia CYB5R3-related.",
"acronym": "METHB-CYB5R3.",
"accession": "DI-01723",
"synonyms": "Methemoglobinemia congenital autosomal recessive.; Methemoglobinemia due to deficiency of methemoglobin reductase.; Methemoglobinemia type I.; Methemoglobinemia type II.; NADH-cytochrome b5 reductase deficiency.; NADH-cytochrome b5 reductase deficiency type I.; NADH-cytochrome b5 reductase deficiency type II.; NADH-dependent methemoglobin reductase deficiency.; ",
"cross_references": "MeSH; D008708.",
"definition": "A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms. ",
"keywords": null
},
{
"identifier": "Metatropic dysplasia.",
"acronym": "MTD.",
"accession": "DI-02481",
"synonyms": "Metatropic dwarfism.; ",
"cross_references": "MeSH; D001848.",
"definition": "A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Pyle disease.",
"acronym": "PYL.",
"accession": "DI-04785",
"synonyms": "Metaphyseal dysplasia, Pyle type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa with or without skeletal anomalies.",
"acronym": "RPSKA.",
"accession": "DI-05006",
"synonyms": "Metaphyseal chondrodysplasia with retinitis pigmentosa.; ",
"cross_references": "MeSH; D012174.",
"definition": "An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation. ",
"keywords": "KW-0242:Dwarfism.; KW-0682:Retinitis pigmentosa.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Metaphyseal dysplasia, Spahr type.",
"acronym": "MDST.",
"accession": "DI-04373",
"synonyms": "Metaphyseal chondrodysplasia, Spahr type.; Spahr type metaphyseal chondrodysplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Metaphyseal chondrodysplasia, Jansen type.",
"acronym": "MCDJ.",
"accession": "DI-01847",
"synonyms": "Metaphyseal chondrodysplasia, Murk Jansen type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.",
"acronym": "MECRCN.",
"accession": "DI-04674",
"synonyms": "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.; ",
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive disorder characterized by metabolic encephalomyopathic crises, hypoglycemia, hyperammonemia, episodic rhabdomyolysis, susceptibility to life-threatening cardiac tachyarrhythmias, developmental delay, intellectual disability, and mild diffuse cerebral atrophy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "KINSSHIP syndrome.",
"acronym": "KINS.",
"accession": "DI-06095",
"synonyms": "Mesomelic dysplasia, AFF3-related.; Mesomelic dysplasia, Steichen-Gersdorf type.; ",
"cross_references": "MeSH; D014564.",
"definition": "An autosomal dominant disease characterized by developmental delay, impaired intellectual development, seizures, short stature, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "ENDOVE syndrome, limb-brain type.",
"acronym": "ENDOVESLB.",
"accession": "DI-06037",
"synonyms": "Mesomelia of lower extremities with hand, foot, and brain anomalies.; MLEHFB.; ",
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive disorder characterized by marked mesomelic shortening of the lower limbs, severe hypoplasia of the tibia and fibula, absent talus, and rudimentary and short foot bones. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. Affected individuals manifest neurologic symptoms including seizures and generalized hypotonia. Brain imaging reveals absence of the cerebellum and hypoplasia of the brain stem. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "ENDOVE syndrome, limb-only type.",
"acronym": "ENDOVESL.",
"accession": "DI-06036",
"synonyms": "Mesomelia of lower extremities with hand and foot anomalies.; MLEHF.; ",
"cross_references": "MeSH; D013576.",
"definition": "An autosomal recessive disorder characterized by severe shortening and deformation of the legs and feet, 3/4 syndactyly of the hands, and toenails partially displaced to plantar surface. Radiographs show normal femora but severely shortened tibiae, triangular fibulae and malformed or absent bones in the feet. In addition, genitourinary anomalies have been observed. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Syndactyly, mesoaxial synostotic, with phalangeal reduction.",
"acronym": "MSSD.",
"accession": "DI-04323",
"synonyms": "Mesoaxial synostotic syndactyly, Malik-Percin type.; Syndactyly, Malik-Percin type.; Syndactyly, type IX.; ",
"cross_references": "MeSH; D013576.",
"definition": "An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes. ",
"keywords": null
},
{
"identifier": "Pitt-Hopkins-like syndrome 2.",
"acronym": "PTHSL2.",
"accession": "DI-03301",
"synonyms": "MeSH; D006985.; MeSH; D008607.; ",
"cross_references": "MedGen; C3280479.",
"definition": "A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. Other features include decreased reflexes in the upper extremities, constipation, strabismus, and protruding tongue with drooling. In contrast to patients with Pitt-Hopkins syndrome, PTHSL2 patients present with normal or only mildly to moderately delayed motor milestones. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Pitt-Hopkins-like syndrome 1.",
"acronym": "PTHSL1.",
"accession": "DI-03300",
"synonyms": "MeSH; D006985.; MeSH; D008607.; ",
"cross_references": "MedGen; C2750246.",
"definition": "A syndrome characterized by severe intellectual disability and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt- Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Nephrotic syndrome 5, with or without ocular abnormalities.",
"acronym": "NPHS5.",
"accession": "DI-03237",
"synonyms": "Mesangial sclerosis, diffuse renal, with ocular abnormalities.; ",
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. ",
"keywords": null
},
{
"identifier": "Rabson-Mendenhall syndrome.",
"acronym": "RMS.",
"accession": "DI-02242",
"synonyms": "Mendenhall syndrome.; ",
"cross_references": "MedGen; C0271695.",
"definition": "Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Multiple neoplasia 2A.",
"acronym": "MEN2A.",
"accession": "DI-02008",
"synonyms": "MEN2.; Multiple neoplasia type 2.; ",
"cross_references": "MedGen; C0025268.",
"definition": "The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism. ",
"keywords": null
},
{
"identifier": "Hyperpigmentation with or without hypopigmentation, familial progressive.",
"acronym": "FPHH.",
"accession": "DI-02576",
"synonyms": "Melanosis universalis hereditaria.; MUH.; ",
"cross_references": "MedGen; C1840392.",
"definition": "A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. Hyperpigmentation has variable intensity, and sometimes is associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules. ",
"keywords": null
}
]
}