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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2140&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2100&ordering=synonyms",
"results": [
{
"identifier": "Factor XII deficiency.",
"acronym": "FA12D.",
"accession": "DI-00487",
"synonyms": "HAF deficiency.; Hageman factor deficiency.; ",
"cross_references": "MeSH; D005175.",
"definition": "An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre- operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection). ",
"keywords": null
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 1.",
"acronym": "CLN1.",
"accession": "DI-00810",
"synonyms": "Hagberg-Santavuori disease.; INCL.; Infantile neuronal ceroid lipofuscinosis.; Juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.; Neuronal ceroid lipofuscinosis with variable age at onset.; Santavuori disease.; Santavuori-Haltia disease.; ",
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Wiedemann-Steiner syndrome.",
"acronym": "WDSTS.",
"accession": "DI-03533",
"synonyms": "Hairy elbows short stature facial dysmorphism and developmental delay.; Hypertrichosis cubiti facial dysmorphism and developmental delay.; WSS.; ",
"cross_references": "MeSH; D006983.",
"definition": "A syndrome characterized by hairy elbows (hypertrichosis cubiti), intellectual disability, a distinctive facial appearance, and short stature. Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures. ",
"keywords": null
},
{
"identifier": "Neurodegeneration with brain iron accumulation 1.",
"acronym": "NBIA1.",
"accession": "DI-02126",
"synonyms": "Hallervorden-Spatz syndrome.; HARP.; HSS.; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration.; Pantothenate kinase-associated neurodegeneration.; PKAN.; PKAN neuroaxonal dystrophy juvenile-onset.; ",
"cross_references": "MeSH; D006211.",
"definition": "Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Acrocallosal syndrome.",
"acronym": "ACLS.",
"accession": "DI-00025",
"synonyms": "Hallux duplication postaxial polydactyly and absence of corpus callosum.; Schinzel acrocallosal syndrome.; ",
"cross_references": "MeSH; D055673.",
"definition": "An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and intellectual disability. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Pallister-Hall-like syndrome.",
"acronym": "PHLS.",
"accession": "DI-05902",
"synonyms": "Hamartoma of hypothalamus.; Hypothalamic hamartomas.; ",
"cross_references": "MeSH; D054975.",
"definition": "An autosomal recessive disorder characterized by a wide phenotypic spectrum of developmental anomalies affecting the brain, heart, skeleton and enteric nervous system. Clinical features include hypothalamic hamartoma, microcephaly, atrioventricular septal defect, postaxial polydactyly, narrow chest, shortening of long bones, and aganglionosis. ",
"keywords": null
},
{
"identifier": "Hand-foot-genital syndrome.",
"acronym": "HFG.",
"accession": "DI-01694",
"synonyms": "Hand-foot-uterus syndrome.; HFG syndrome.; HFU.; HFU syndrome.; ",
"cross_references": "MeSH; D017880.",
"definition": "A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. ",
"keywords": null
},
{
"identifier": "Angelman syndrome.",
"acronym": "AS.",
"accession": "DI-00121",
"synonyms": "Happy puppet syndrome.; ",
"cross_references": "MeSH; D017204.",
"definition": "A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open- mouthed expression revealing the tongue. ",
"keywords": null
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 4B.",
"acronym": "ARCI4B.",
"accession": "DI-00584",
"synonyms": "Harlequin fetus.; Harlequin ichthyosis.; HI.; Ichthyosis congenita harlequin fetus type.; ",
"cross_references": "MeSH; D017490.",
"definition": "A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 5.",
"acronym": "HLD5.",
"accession": "DI-00651",
"synonyms": "HCC.; Hypomyelination with congenital cataract.; ",
"cross_references": "MeSH; D020279.",
"definition": "A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed. ",
"keywords": "KW-0898:Cataract.; KW-1026:Leukodystrophy.; "
},
{
"identifier": "Hypercholesterolemia, familial, 3.",
"acronym": "FHCL3.",
"accession": "DI-01578",
"synonyms": "HCHOLA3.; Hypercholesterolemia, autosomal dominant, 3.; ",
"cross_references": "MeSH; D006937.",
"definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Spinocerebellar ataxia 17.",
"acronym": "SCA17.",
"accession": "DI-01079",
"synonyms": "HDL4.; Huntington disease-like 4.; ",
"cross_references": "MeSH; D020754.",
"definition": "Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Leukoencephalopathy, hereditary diffuse, with spheroids 2.",
"acronym": "HDLS2.",
"accession": "DI-06298",
"synonyms": "HDLS-S.; Leukoencephalopathy, hereditary diffuse, with spheroids, Swedish type.; Swedish type hereditary diffuse leukoencephalopathy with spheroids.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Wolfram-like syndrome autosomal dominant.",
"acronym": "WFSL.",
"accession": "DI-03292",
"synonyms": "Hearing loss progressive with optic atrophy and/or impaired glucose regulation.; ",
"cross_references": "MeSH; D014929.",
"definition": "A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle- frequency ranges. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Hemochromatosis 2A.",
"acronym": "HFE2A.",
"accession": "DI-01699",
"synonyms": "HEFE2.; Hemochromatosis type 2.; JH.; Juvenile hemochromatosis.; ",
"cross_references": "MeSH; D006432.",
"definition": "A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Hemangioma, capillary infantile.",
"acronym": "HCI.",
"accession": "DI-02546",
"synonyms": "Hemangioma hereditary capillary.; ",
"cross_references": "MeSH; D018324.",
"definition": "A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. ",
"keywords": null
},
{
"identifier": "Vascular malformation, primary intraosseous.",
"acronym": "VMPI.",
"accession": "DI-04828",
"synonyms": "Hemangioma, intraosseous.; Vascular malformation osseous.; VMOS.; ",
"cross_references": "MeSH; D054079.",
"definition": "An autosomal recessive, rare malformation characterized by non- neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. ",
"keywords": null
},
{
"identifier": "Hemochromatosis 4.",
"acronym": "HFE4.",
"accession": "DI-01701",
"synonyms": "Hemochromatosis autosomal dominant.; Hemochromatosis due to defect in ferroportin.; ",
"cross_references": "MeSH; D006432.",
"definition": "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. ",
"keywords": null
},
{
"identifier": "Hemochromatosis 3.",
"acronym": "HFE3.",
"accession": "DI-01715",
"synonyms": "Hemochromatosis due to defect in transferrin receptor 2.; ",
"cross_references": "MeSH; D006432.",
"definition": "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. ",
"keywords": null
},
{
"identifier": "Hemochromatosis 1.",
"acronym": "HFE1.",
"accession": "DI-01714",
"synonyms": "Hemochromatosis type 1.; Hereditary hemochromatosis.; HH.; HLAH.; Primary hereditary hemochromatosis.; ",
"cross_references": "MeSH; D006432.",
"definition": "A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. ",
"keywords": null
}
]
}