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"count": 6723,
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"results": [
{
"identifier": "Retinitis pigmentosa 77.",
"acronym": "RP77.",
"accession": "DI-04926",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP77 inheritance is autosomal recessive. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Skin creases, congenital symmetric circumferential, 2.",
"acronym": "CSCSC2.",
"accession": "DI-04629",
"synonyms": null,
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. ",
"keywords": null
},
{
"identifier": "Skin fragility-woolly hair syndrome.",
"acronym": "SFWHS.",
"accession": "DI-01032",
"synonyms": null,
"cross_references": "MeSH; D012873.",
"definition": "An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Retinitis pigmentosa 76.",
"acronym": "RP76.",
"accession": "DI-04824",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Slowed nerve conduction velocity.",
"acronym": "SNCV.",
"accession": "DI-02311",
"synonyms": null,
"cross_references": "MedGen; C1842357.",
"definition": "Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 75.",
"acronym": "RP75.",
"accession": "DI-04756",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP75 inheritance is autosomal recessive. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 74.",
"acronym": "RP74.",
"accession": "DI-04520",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Smith-Magenis syndrome.",
"acronym": "SMS.",
"accession": "DI-02313",
"synonyms": null,
"cross_references": "MedGen; C1866927.",
"definition": "Characterized by intellectual disability associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 73.",
"acronym": "RP73.",
"accession": "DI-04519",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Smith-McCort dysplasia 2.",
"acronym": "SMC2.",
"accession": "DI-03716",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Retinitis pigmentosa 72.",
"acronym": "RP72.",
"accession": "DI-04485",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 71.",
"acronym": "RP71.",
"accession": "DI-04435",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 70.",
"acronym": "RP70.",
"accession": "DI-04177",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 69.",
"acronym": "RP69.",
"accession": "DI-04068",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Snijders Blok-Fisher syndrome.",
"acronym": "SNIBFIS.",
"accession": "DI-05670",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability, autistic features, impairments in speech and language skills, and dysmorphic features including abnormal, cupped, or prominent ears and ocular anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Snowflake vitreoretinal degeneration.",
"acronym": "SVD.",
"accession": "DI-02314",
"synonyms": null,
"cross_references": "MedGen; C1860405.",
"definition": "Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 68.",
"acronym": "RP68.",
"accession": "DI-04064",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Solitary median maxillary central incisor.",
"acronym": "SMMCI.",
"accession": "DI-02316",
"synonyms": null,
"cross_references": "MedGen; C1840235.",
"definition": "Rare dental anomaly characterized by the congenital absence of one maxillary central incisor. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 67.",
"acronym": "RP67.",
"accession": "DI-03990",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Retinitis pigmentosa 66.",
"acronym": "RP66.",
"accession": "DI-03727",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
}
]
}