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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2660&ordering=synonyms",
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"results": [
{
"identifier": "Thiamine-responsive megaloblastic anemia syndrome.",
"acronym": "TRMA.",
"accession": "DI-02365",
"synonyms": "Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness.; Rogers syndrome.; Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type).; Thiamine-responsive anemia syndrome.; Thiamine-responsive myelodysplasia.; THMD1.; ",
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Megalocornea 1, X-linked.",
"acronym": "MGC1.",
"accession": "DI-03435",
"synonyms": "Megalocornea.; MGCN.; ",
"cross_references": "MeSH; D003316.",
"definition": "An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. ",
"keywords": null
},
{
"identifier": "Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome.",
"acronym": "FAMMMPC.",
"accession": "DI-01558",
"synonyms": "Melanoma-pancreatic cancer syndrome.; ",
"cross_references": "MeSH; D009386.",
"definition": "An inherited cancer predisposition syndrome characterized by an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer. ",
"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
},
{
"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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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
}
]
}