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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5080&ordering=synonyms",
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{
"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 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": "Cardiomyopathy, dilated, 1P.",
"acronym": "CMD1P.",
"accession": "DI-00222",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1OO.",
"acronym": "CMD1OO.",
"accession": "DI-06603",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1OO inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"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/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": "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": "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.",
"acronym": "PEERB.",
"accession": "DI-05486",
"synonyms": null,
"cross_references": "MeSH; D012206.",
"definition": "An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"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": "Cardiomyopathy, dilated, 1NN.",
"acronym": "CMD1NN.",
"accession": "DI-04172",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1MM.",
"acronym": "CMD1MM.",
"accession": "DI-03872",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1M.",
"acronym": "CMD1M.",
"accession": "DI-00219",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Ehlers-Danlos syndrome, musculocontractural type 2.",
"acronym": "EDSMC2.",
"accession": "DI-03960",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Ehlers-Danlos syndrome, periodontal type, 2.",
"acronym": "EDSPD2.",
"accession": "DI-04849",
"synonyms": null,
"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. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1LL.",
"acronym": "CMD1LL.",
"accession": "DI-03860",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1L.",
"acronym": "CMD1L.",
"accession": "DI-00218",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "El Hayek-Chahrour neurodevelopmental syndrome.",
"acronym": "NEDEHC.",
"accession": "DI-06902",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by lack of speech, intellectual disability, autism, and developmental delay. ",
"keywords": "KW-0991:Intellectual disability.; KW-1269:Autism.; "
}
]
}