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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3500&ordering=-synonyms",
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"results": [
{
"identifier": "Psoriasis 2.",
"acronym": "PSORS2.",
"accession": "DI-03462",
"synonyms": "Psoriasis.; Psoriasis vulgaris.; PV.; ",
"cross_references": "MeSH; D011565.",
"definition": "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. ",
"keywords": null
},
{
"identifier": "Psoriasis 11.",
"acronym": "PSORS11.",
"accession": "DI-02669",
"synonyms": "Psoriasis.; Psoriasis vulgaris.; PV.; ",
"cross_references": "MeSH; D011565.",
"definition": "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. ",
"keywords": null
},
{
"identifier": "Psoriasis 1.",
"acronym": "PSORS1.",
"accession": "DI-02231",
"synonyms": "Psoriasis.; Psoriasis vulgaris.; PV.; ",
"cross_references": "MeSH; D011565.",
"definition": "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. ",
"keywords": null
},
{
"identifier": "Psoriasis 7.",
"acronym": "PSORS7.",
"accession": "DI-02668",
"synonyms": "Psoriasis.; Psoriasis vulgaris.; PV.; ",
"cross_references": "MeSH; D011565.",
"definition": "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. ",
"keywords": null
},
{
"identifier": "Mungan syndrome.",
"acronym": "MGS.",
"accession": "DI-05340",
"synonyms": "Pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and cardiac abnormalities.; Visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities.; ",
"cross_references": "MeSH; D007418.",
"definition": "An autosomal recessive disease characterized by visceral neuromyopathy, intestinal dysmotility and chronic intestinal pseudoobstruction, megaduodenum, long-segment Barrett esophagus, and a variety of cardiac valve or septal defects such as membranous ventricular septal defect, pulmonary and tricuspid valve regurgitation. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia Maroteaux type.",
"acronym": "SEDM.",
"accession": "DI-02969",
"synonyms": "Pseudo-Morquio syndrome type 2.; SED Maroteaux type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia. Intelligence is normal. ",
"keywords": null
},
{
"identifier": "Pseudohypoaldosteronism 1B3, autosomal recessive.",
"acronym": "PHA1B3.",
"accession": "DI-06538",
"synonyms": "Pseudohypoaldosteronism, type IB3, autosomal recessive.; ",
"cross_references": "MeSH; D011546.",
"definition": "A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. ",
"keywords": null
},
{
"identifier": "Pseudohypoaldosteronism 1B2, autosomal recessive.",
"acronym": "PHA1B2.",
"accession": "DI-06537",
"synonyms": "Pseudohypoaldosteronism, type IB2, autosomal recessive.; ",
"cross_references": "MeSH; D011546.",
"definition": "A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. ",
"keywords": null
},
{
"identifier": "Aromatase deficiency.",
"acronym": "AROD.",
"accession": "DI-00134",
"synonyms": "Pseudohermaphroditism female due to placental aromatase deficiency.; ",
"cross_references": "MeSH; D058489.",
"definition": "A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries. ",
"keywords": "KW-0657:Pseudohermaphroditism.; "
},
{
"identifier": "Pseudoachondroplasia.",
"acronym": "PSACH.",
"accession": "DI-02227",
"synonyms": "Pseudoachondroplastic dysplasia.; Spondyloepiphyseal dysplasia pseudoachondroplastic.; ",
"cross_references": "MeSH; D010009.",
"definition": "A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease. ",
"keywords": null
},
{
"identifier": "Phosphoribosylpyrophosphate synthetase superactivity.",
"acronym": "PRPS1 superactivity.",
"accession": "DI-02162",
"synonyms": "PRPS-related gout.; ",
"cross_references": "MedGen; C1970827.",
"definition": "Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. ",
"keywords": null
},
{
"identifier": "Proteasome-associated autoinflammatory syndrome 3.",
"acronym": "PRAAS3.",
"accession": "DI-05286",
"synonyms": "Proteasome-associated autoinflammatory syndrome 3, digenic.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis- induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic. ",
"keywords": null
},
{
"identifier": "Colorblindness, partial, protan series.",
"acronym": "CBP.",
"accession": "DI-02145",
"synonyms": "Protanopia.; Red colorblindness.; ",
"cross_references": "MeSH; D003117.",
"definition": "A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. ",
"keywords": null
},
{
"identifier": "Obesity, early-onset, with adrenal insufficiency and red hair.",
"acronym": "OBAIRH.",
"accession": "DI-02211",
"synonyms": "Pro-opiomelanocortinin deficiency.; ",
"cross_references": "MeSH; D009765.",
"definition": "An autosomal recessive disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Choroideremia.",
"acronym": "CHM.",
"accession": "DI-01347",
"synonyms": "Progressive tapetochoroidal dystrophy.; TCD.; ",
"cross_references": "MeSH; D015794.",
"definition": "An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. ",
"keywords": null
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.",
"acronym": "PEOB5.",
"accession": "DI-05301",
"synonyms": "Progressive external ophthalmoplegia, autosomal recessive 5.; ",
"cross_references": "MeSH; D017246.",
"definition": "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show numerous COX-deficient ragged-red fibers, increased mtDNA deletions, and extensive variable mtDNA rearrangements. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.",
"acronym": "PEOB4.",
"accession": "DI-04802",
"synonyms": "Progressive external ophthalmoplegia, autosomal recessive 4.; ",
"cross_references": "MeSH; D017246.",
"definition": "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.",
"acronym": "PEOB3.",
"accession": "DI-04801",
"synonyms": "Progressive external ophthalmoplegia, autosomal recessive 3.; ",
"cross_references": "MeSH; D017246.",
"definition": "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6.",
"acronym": "PEOA6.",
"accession": "DI-03758",
"synonyms": "Progressive external ophthalmoplegia autosomal dominant 6.; ",
"cross_references": "MeSH; D017246.",
"definition": "A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
},
{
"identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5.",
"acronym": "PEOA5.",
"accession": "DI-02544",
"synonyms": "Progressive external ophthalmoplegia autosomal dominant 5.; ",
"cross_references": "MeSH; D017246.",
"definition": "A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. ",
"keywords": "KW-0935:Progressive external ophthalmoplegia.; "
}
]
}