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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2400&ordering=synonyms",
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"results": [
{
"identifier": "Hyaline fibromatosis syndrome.",
"acronym": "HFS.",
"accession": "DI-01850",
"synonyms": "Infantile systemic hyalinosis.; ISH.; JHF.; Juvenile hyaline fibromatosis.; Systemic hyalinosis.; ",
"cross_references": "MeSH; D057770.",
"definition": "An autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 5.",
"acronym": "SPGF5.",
"accession": "DI-01927",
"synonyms": "Infertility associated with multi-tailed spermatozoa and excessive DNA.; Male infertility with large-headed multiflagellar polyploid spermatozoa.; ",
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 98 with autoinflammation, X-linked.",
"acronym": "IMD98.",
"accession": "DI-06381",
"synonyms": "Inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8.; INFLTR8.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked disorder characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Features include mouth ulcers, fever, poor early growth, hepatosplenomegaly, lymphadenopathy, polyarthritis, and non- infectious enteritis. ",
"keywords": null
},
{
"identifier": "Inflammatory bowel disease 10.",
"acronym": "IBD10.",
"accession": "DI-02658",
"synonyms": "Inflammatory bowel disease (Crohn disease) 10.; ",
"cross_references": "MeSH; D015212.",
"definition": "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ",
"keywords": null
},
{
"identifier": "Inflammatory bowel disease 19.",
"acronym": "IBD19.",
"accession": "DI-03080",
"synonyms": "Inflammatory bowel disease (Crohn disease) 19.; ",
"cross_references": "MeSH; D015212.",
"definition": "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ",
"keywords": null
},
{
"identifier": "Inflammatory bowel disease 31, autosomal recessive.",
"acronym": "IBD31.",
"accession": "DI-06149",
"synonyms": "Inflammatory bowel disease, early-onset, autosomal recessive.; Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive.; ",
"cross_references": "MeSH; D015212.",
"definition": "A form of inflammatory bowel disease, a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology and a multifactorial inheritance pattern. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. IBD31 patients suffer from infantile ulcerative colitis and present with recurrent bloody diarrhea with anemia and leukocytosis, extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum. ",
"keywords": null
},
{
"identifier": "Pseudofolliculitis barbae.",
"acronym": "PFB.",
"accession": "DI-05647",
"synonyms": "Ingrown hairs.; Pili incarnati.; ",
"cross_references": "MeSH; D006201.",
"definition": "A common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It primarily affects curly haired males. The etiology of PFB is multifactorial. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type.",
"acronym": "SDSX.",
"accession": "DI-02342",
"synonyms": "Intellectual deficit X-linked Stocco Dos Santos type.; ",
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by severe intellectual disability with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cortical dysplasia, complex, with other brain malformations 13.",
"acronym": "CDCBM13.",
"accession": "DI-03425",
"synonyms": "Intellectual developmental disorder, autosomal dominant 13.; MRD13.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay with impaired intellectual development. Some patients show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. CDCBM13 is associated with variable neuronal migration defects resulting in cortical malformations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Schuurs-Hoeijmakers syndrome.",
"acronym": "SHMS.",
"accession": "DI-03667",
"synonyms": "Intellectual developmental disorder, autosomal dominant 17.; MRD17.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant intellectual developmental disorder characterized by intellectual disability in combination with distinct craniofacial features and genital abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Houge-Janssens syndrome 1.",
"acronym": "HJS1.",
"accession": "DI-04419",
"synonyms": "Intellectual developmental disorder, autosomal dominant 35.; MRD35.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Additional more variable features may include macrocephaly and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Houge-Janssens syndrome 2.",
"acronym": "HJS2.",
"accession": "DI-04420",
"synonyms": "Intellectual developmental disorder, autosomal dominant 36.; MRD36.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Some patients may develop seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, FRA12A type.",
"acronym": "IDDFR12A.",
"accession": "DI-06375",
"synonyms": "Intellectual developmental disorder, autosomal dominant, FRA12A type.; ",
"cross_references": "MeSH; D038901.",
"definition": "An autosomal dominant disorder characterized by impaired intellectual development with or without other anomalies, in association with a folate-sensitive chromosomal fragile site at 12q13. Main features are global developmental delay, significant learning disability, epileptic seizures, and behavioral problems. The disorder can be inherited without phenotypic effects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy.",
"acronym": "MRT18.",
"accession": "DI-03250",
"synonyms": "Intellectual developmental disorder, autosomal recessive 18.; ",
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Tolchin-Le Caignec syndrome.",
"acronym": "TOLCAS.",
"accession": "DI-05890",
"synonyms": "Intellectual developmental disorder with behavioral abnormalities and variable bone defects.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, attention deficit and hyperactivity disorder, and aggressive episodes. Highly variable, additional features include osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Hao-Fountain syndrome.",
"acronym": "HAFOUS.",
"accession": "DI-05866",
"synonyms": "Intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, varying degrees of intellectual disability, autism spectrum disorder, poor or absent speech, and mild facial dysmorphism. Most patients develop seizures. Additional variable features include hypotonia, hypogonadism in males, and ocular anomalies. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Methylmalonic aciduria and homocystinuria, cblX type.",
"acronym": "MAHCX.",
"accession": "DI-03561",
"synonyms": "Intellectual developmental disorder, X-linked 3.; Methylmalonic aciduria and homocysteinemia , cblX type.; MRX3.; XLID3.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy, failure to thrive, impaired intellectual development, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Partington syndrome.",
"acronym": "PRTS.",
"accession": "DI-02147",
"synonyms": "Intellectual developmental disorder, X-linked, syndromic 1.; MRX36.; MRXS1.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked developmental disorder characterized by intellectual disability, episodic dystonic hand movements, lower limb spasticity, and dysarthria. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia.",
"acronym": "MICPCH.",
"accession": "DI-00709",
"synonyms": "Intellectual developmental disorder, X-linked, syndromic, Najm type.; MICPCH syndrome.; MRXSNA.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of intellectual disability alone or associated with nystagmus. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency.",
"acronym": "MRXGH.",
"accession": "DI-01968",
"synonyms": "Intellectual developmental disorder, X-linked, with panhypopituitarism.; MRGH.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by the association of variable degrees of intellectual disability with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}