Human Disease List
GET /api/human_diseases/?format=api&offset=3520&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3540&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3500&ordering=-identifier", "results": [ { "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 1.", "acronym": "IBD1.", "accession": "DI-01452", "synonyms": "Crohn disease.; Crohn disease-associated growth failure.; Inflammatory bowel disease (Crohn disease) 1.; Regional enteritis.; Ulcerative colitis.; ", "cross_references": "MeSH; D003424.", "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": "Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations.", "acronym": "IEHDCM.", "accession": "DI-03003", "synonyms": null, "cross_references": "MeSH; D007160.", "definition": "A condition with biological features of autoimmune lymphoproliferative syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell counts, and elevated IL10 and FASL levels. Affected individuals suffer from recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction sometimes accompanied by generalized seizures. The episodes can be triggered by varicella zoster virus (VZV), measles mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and Epstein-Barr virus (EBV). ", "keywords": null }, { "identifier": "Infantile striatonigral degeneration.", "acronym": "SNDI.", "accession": "DI-01821", "synonyms": "Familial striatal degeneration.; IBSN.; Infantile bilateral striatal necrosis.; ", "cross_references": "MedGen; C0795996.", "definition": "Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and intellectual disability. ", "keywords": null }, { "identifier": "Infantile sialic acid storage disorder.", "acronym": "ISSD.", "accession": "DI-01820", "synonyms": "N-acetylneuraminic acid storage disease.; NSD.; ", "cross_references": "MedGen; C2930923.", "definition": "Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. ", "keywords": null }, { "identifier": "Infantile-onset ascending spastic paralysis.", "acronym": "IAHSP.", "accession": "DI-01823", "synonyms": null, "cross_references": "MedGen; C2931441.", "definition": "Characterized by progressive spasticity and weakness of limbs. ", "keywords": null }, { "identifier": "Infantile liver failure syndrome 3.", "acronym": "ILFS3.", "accession": "DI-05669", "synonyms": null, "cross_references": "MeSH; D017093.", "definition": "A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first months or years of life. ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads. ", "keywords": null }, { "identifier": "Infantile liver failure syndrome 2.", "acronym": "ILFS2.", "accession": "DI-04550", "synonyms": null, "cross_references": "MeSH; D017093.", "definition": "A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ", "keywords": null }, { "identifier": "Infantile liver failure syndrome 1.", "acronym": "ILFS1.", "accession": "DI-03895", "synonyms": null, "cross_references": "MeSH; D017093.", "definition": "A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ", "keywords": null }, { "identifier": "Infantile cerebellar-retinal degeneration.", "acronym": "ICRD.", "accession": "DI-03409", "synonyms": null, "cross_references": "MeSH; D019636.", "definition": "A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.", "acronym": "CASGID.", "accession": "DI-05490", "synonyms": null, "cross_references": "MeSH; D012873.", "definition": "An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Indifference to pain, congenital, autosomal recessive.", "acronym": "CIP.", "accession": "DI-01231", "synonyms": "Asymbolia for pain.; Channelopathy-associated insensitivity to pain.; Congenital analgesia autosomal recessive.; ", "cross_references": "MeSH; D000699.", "definition": "A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating. ", "keywords": null }, { "identifier": "Incontinentia pigmenti.", "acronym": "IP.", "accession": "DI-00597", "synonyms": "Bloch-Sulzberger syndrome.; Familial incontinentia pigmenti male-lethal type.; Familial incontinentia pigmenti type II.; IP2.; ", "cross_references": "MeSH; D007184.", "definition": "A genodermatosis usually prenatally lethal in males. In affected females, it causes abnormalities of the skin, hair, eyes, nails, teeth, skeleton, heart, and central nervous system. The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. ", "keywords": null }, { "identifier": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3.", "acronym": "IBMPFD3.", "accession": "DI-03882", "synonyms": "MSP3.; Multisystem proteinopathy 3.; ", "cross_references": "MeSH; D057180.", "definition": "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. ", "keywords": null }, { "identifier": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2.", "acronym": "IBMPFD2.", "accession": "DI-03892", "synonyms": "MSP2.; Multisystem proteinopathy 2.; ", "cross_references": "MeSH; D057180.", "definition": "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. ", "keywords": null }, { "identifier": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1.", "acronym": "IBMPFD1.", "accession": "DI-01817", "synonyms": "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.; Limb-girdle muscular dystrophy with Paget disease of bone.; Lower motor neuron degeneration with Paget-like bone disease.; Pagetoid amyotrophic lateral sclerosis.; Pagetoid neuroskeletal syndrome.; ", "cross_references": "MeSH; D057180.", "definition": "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. ", "keywords": null }, { "identifier": "Inclusion body myopathy and brain white matter abnormalities.", "acronym": "IBMWMA.", "accession": "DI-06329", "synonyms": "MSP6.; Multisystem proteinopathy 6.; ", "cross_references": "MeSH; D057180.", "definition": "An autosomal dominant, adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Cognitive impairment or frontotemporal dementia occurs in some patients. ", "keywords": null }, { "identifier": "Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis.", "acronym": "MORMS.", "accession": "DI-02533", "synonyms": "MORM syndrome.; ", "cross_references": "MeSH; D058499.", "definition": "An autosomal recessive disorder characterized by moderate intellectual disability, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. ", "keywords": "KW-0550:Obesity.; KW-0991:Intellectual disability.; " }, { "identifier": "Impaired intellectual development, anterior maxillary protrusion, and strabismus.", "acronym": "MRAMS.", "accession": "DI-02951", "synonyms": null, "cross_references": "MeSH; D008607.", "definition": "A syndrome characterized by severe intellectual disability, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Impaired intellectual development and distinctive facial features with or without cardiac defects.", "acronym": "MRFACD.", "accession": "DI-04642", "synonyms": "Asadollahi-Rauch syndrome.; ", "cross_references": "MeSH; D008607.", "definition": "An autosomal dominant syndrome characterized by intellectual disability, delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries. ", "keywords": "KW-0991:Intellectual disability.; " } ] }