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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2400",
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"results": [
{
"identifier": "Fibromuscular dysplasia, multifocal.",
"acronym": "FMDMF.",
"accession": "DI-06112",
"synonyms": null,
"cross_references": "MeSH; D005352.",
"definition": "An autosomal dominant vascular disorder with incomplete penetrance, characterized by fibrous tissue and webs developing in the artery wall and leading to multiple arterial stenoses. Patients with multifocal fibromuscular dysplasia can develop arterial tortuosity, macroaneurysms, and dissections. Arterial rupture may occur. ",
"keywords": null
},
{
"identifier": "Fibrosis, neurodegeneration, and cerebral angiomatosis.",
"acronym": "FINCA.",
"accession": "DI-05458",
"synonyms": "FINCA syndrome.; ",
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma- like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 1.",
"acronym": "CFEOM1.",
"accession": "DI-00352",
"synonyms": "Blepharoptosis with absent eye movements.; Congenital ophthalmoplegia.; FEOM1.; ",
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 2.",
"acronym": "CFEOM2.",
"accession": "DI-00353",
"synonyms": "Congenital fibrosis of extraocular muscles autosomal recessive.; Exotropic strabismus fixus.; FEOM2.; ",
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 3A.",
"acronym": "CFEOM3A.",
"accession": "DI-02509",
"synonyms": "Congenital fibrosis of extraocular muscles 3A with or without extraocular involvement.; FEOM3.; TUBB3 syndrome.; ",
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 3B.",
"acronym": "CFEOM3B.",
"accession": "DI-04509",
"synonyms": null,
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 5.",
"acronym": "CFEOM5.",
"accession": "DI-04337",
"synonyms": null,
"cross_references": "MeSH; D009886.",
"definition": "An ocular motility disorder characterized by congenital dysinnervation of various cranial nerves to ocular muscles. Clinical features are ophthalmoplegia, anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. ",
"keywords": null
},
{
"identifier": "Ficolin 3 deficiency.",
"acronym": "FCN3D.",
"accession": "DI-03103",
"synonyms": "Defect in lectin complement activation pathway, 3.; FCN3 deficiency.; Immunodeficiency due to ficolin 3 deficiency.; LCAPD3.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers. Affected individuals have normal levels of lymphocytes, normal T-cell responses, and normal antibodies, but a selective deficient antibody response to pneumococcal polysaccharide vaccine. ",
"keywords": null
},
{
"identifier": "Filippi syndrome.",
"acronym": "FLPIS.",
"accession": "DI-04307",
"synonyms": null,
"cross_references": "MeSH; D019066.",
"definition": "A rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Fish-eye disease.",
"acronym": "FED.",
"accession": "DI-00500",
"synonyms": "Alpha-LCAT deficiency.; Dyslipoproteinemic corneal dystrophy.; ",
"cross_references": "MeSH; D007863.",
"definition": "A disorder of lipoprotein metabolism due to partial lecithin- cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish- eye'). ",
"keywords": null
},
{
"identifier": "Fleck retina, familial benign.",
"acronym": "FRFB.",
"accession": "DI-03359",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. ",
"keywords": null
},
{
"identifier": "Fliedner-Zweier syndrome.",
"acronym": "FZS.",
"accession": "DI-06763",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by variable features including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Floating-Harbor syndrome.",
"acronym": "FLHS.",
"accession": "DI-03389",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. ",
"keywords": null
},
{
"identifier": "Focal cortical dysplasia 2.",
"acronym": "FCORD2.",
"accession": "DI-04980",
"synonyms": "CDT.; CDTBC.; CDTD.; Cortical dysplasia of Taylor.; Cortical dysplasia of Taylor, dysplasia only.; Cortical dysplasia of Taylor with balloon cells.; Cortical dysplasia of Taylor without balloon cells.; FCD2.; FCD IIA.; FCD IIB.; FCDT.; FCORD2A.; FCORD2B.; Focal cortical dysplasia, type II.; Focal cortical dysplasia, type IIA.; Focal cortical dysplasia, type IIB.; Focal cortical dysplasia of Taylor.; Focal cortical dysplasia type 2.; ",
"cross_references": "MeSH; D001927.",
"definition": "A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Focal cortical dysplasia of Taylor balloon cell type.",
"acronym": "FCDBC.",
"accession": "DI-01618",
"synonyms": null,
"cross_references": "MedGen; C1846389.",
"definition": "Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development. ",
"keywords": null
},
{
"identifier": "Focal dermal hypoplasia.",
"acronym": "FODH.",
"accession": "DI-01619",
"synonyms": "DHOF.; FDH.; Goltz Gorlin syndrome.; Goltz-Gorlin syndrome.; Goltz syndrome.; ",
"cross_references": "MeSH; D005489.",
"definition": "A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present. ",
"keywords": null
},
{
"identifier": "Focal facial dermal dysplasia 3, Setleis type.",
"acronym": "FFDD3.",
"accession": "DI-03079",
"synonyms": "Bitemporal forceps marks syndrome.; Facial ectodermal dysplasia.; FFDD type II.; FFDD type III.; Focal facial dermal dysplasia type II.; Focal facial dermal dysplasia type III.; Setleis syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Focal facial dermal dysplasia 4.",
"acronym": "FFDD4.",
"accession": "DI-03636",
"synonyms": "FFDD type IV.; Focal facial dermal dysplasia type IV.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Focal segmental glomerulosclerosis 1.",
"acronym": "FSGS1.",
"accession": "DI-01620",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Focal segmental glomerulosclerosis 10.",
"acronym": "FSGS10.",
"accession": "DI-05975",
"synonyms": "Glomerular basement membrane disease, nail-patella syndrome type.; Nail-patella-like renal disease.; NPLRD.; ",
"cross_references": "MeSH; D005923.",
"definition": "An autosomal dominant form of focal segmental glomerulosclerosis, a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
}
]
}