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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2080",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2040",
"results": [
{
"identifier": "Ectodermal dysplasia 9, hair/nail type.",
"acronym": "ECTD9.",
"accession": "DI-03620",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia). ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia and immunodeficiency 1.",
"acronym": "EDAID1.",
"accession": "DI-00424",
"synonyms": "Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema.; Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked.; Ectodermal dysplasia anhidrotic with immune deficiency.; Ectodermal dysplasia hypohidrotic with immunodeficiency.; EDA-ID.; HED-ID.; Hyper-IgM immunodeficiency X-linked with ectodermal dysplasia hypohidrotic.; NEMO deficiency.; OLEDAID.; XHM-ED.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAID1 is an X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, and may be fatal in childhood. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia and immunodeficiency 2.",
"acronym": "EDAID2.",
"accession": "DI-00425",
"synonyms": "Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant.; Ectodermal dysplasia hypohidrotic with immunodeficiency.; HED-ID.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.",
"acronym": "EEMS.",
"accession": "DI-00433",
"synonyms": "Albrectsen-Svendsen syndrome.; EEM syndrome.; Ohdo-Hirayama-Terawaki syndrome.; ",
"cross_references": "MeSH; D017880.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia, Margarita Island type.",
"acronym": "EDMI.",
"accession": "DI-00426",
"synonyms": "Cleft lip/palate-ectodermal dysplasia syndrome.; CLPED1.; Ectodermal dysplasia Margarita type.; Ectodermal dysplasia type 4.; ED4.; Margarita Island ectodermal dysplasia.; Syndactyly-ectodermal dysplasia-cleft lip/palate.; Zlotogora-Ogur syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia/short stature syndrome.",
"acronym": "ECTDS.",
"accession": "DI-04239",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "An autosomal recessive ectodermal dysplasia syndrome characterized by nail dystrophy and/or loss, oral mucosa and/or tongue pigmentation, abnormal dentition, keratoderma affecting the margins of the palms and soles, focal hyperkeratosis of the dorsal aspects of the hands and feet, and short stature. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; "
},
{
"identifier": "Ectodermal dysplasia-skin fragility syndrome.",
"acronym": "EDSFS.",
"accession": "DI-00429",
"synonyms": "Ectodermal dysplasia/skin fragility syndrome.; McGrath syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia-syndactyly syndrome 1.",
"acronym": "EDSS1.",
"accession": "DI-02899",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies.",
"acronym": "EDFAOB.",
"accession": "DI-05728",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A neuroectodermal syndrome characterized by linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Patients show no intellectual or neurologic impairment. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ectopia lentis 1, isolated, autosomal dominant.",
"acronym": "ECTOL1.",
"accession": "DI-01839",
"synonyms": null,
"cross_references": "MeSH; D004479.",
"definition": "An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. ",
"keywords": null
},
{
"identifier": "Ectopia lentis 2, isolated, autosomal recessive.",
"acronym": "ECTOL2.",
"accession": "DI-01244",
"synonyms": null,
"cross_references": "MeSH; D004479.",
"definition": "An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. ",
"keywords": null
},
{
"identifier": "Ectopia lentis et pupillae.",
"acronym": "ECTOLP.",
"accession": "DI-03690",
"synonyms": null,
"cross_references": "MeSH; D011681.",
"definition": "An ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy. ",
"keywords": null
},
{
"identifier": "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.",
"acronym": "EEC3.",
"accession": "DI-00434",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant syndrome characterized by ectrodactyly of hands and feet, ectodermal dysplasia and facial clefting. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Ehlers-Danlos syndrome, arthrochalasia type, 1.",
"acronym": "EDSARTH1.",
"accession": "DI-00442",
"synonyms": "Arthrochalasis multiplex congenita.; EDS7A.; EDS VIIA.; EDS VII mutant procollagen type.; Ehlers-Danlos syndrome 7A.; Ehlers-Danlos syndrome arthrochalasic type.; Ehlers-Danlos syndrome type VIIA, autosomal dominant.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal dominant form characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Ehlers-Danlos syndrome, arthrochalasia type, 2.",
"acronym": "EDSARTH2.",
"accession": "DI-05166",
"synonyms": "EDS7B.; EDS VIIB.; Ehlers-Danlos syndrome, type VIIB, autosomal dominant.; Ehlers-Danlos syndrome 7B.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Ehlers-Danlos syndrome, cardiac valvular type.",
"acronym": "EDSCV.",
"accession": "DI-01317",
"synonyms": "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Ehlers-Danlos syndrome, classic-like.",
"acronym": "EDSCLL1.",
"accession": "DI-01097",
"synonyms": "EDS due to TNX deficiency.; Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency.; Ehlers-Danlos syndrome due to tenascin X deficiency.; Tenascin-X deficiency.; TNX deficiency.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL1 patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL1 inheritance is autosomal recessive. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Ehlers-Danlos syndrome, classic-like, 2.",
"acronym": "EDSCLL2.",
"accession": "DI-05255",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Ehlers-Danlos syndrome, classic type, 1.",
"acronym": "EDSCL1.",
"accession": "DI-00436",
"synonyms": "EDS1.; EDS I.; Ehlers-Danlos syndrome, gravis type.; Ehlers-Danlos syndrome, severe classic type.; Ehlers-Danlos syndrome, type I.; Ehlers-Danlos syndrome 1.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Ehlers-Danlos syndrome, classic type, 2.",
"acronym": "EDSCL2.",
"accession": "DI-00437",
"synonyms": "EDS2.; EDS II.; Ehlers-Danlos syndrome, type II.; Ehlers-Danlos syndrome 2.; Ehlers-Danlos syndrome mild classic type.; Ehlers-Danlos syndrome mitis type.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
}
]
}