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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4440&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4400&ordering=-synonyms",
"results": [
{
"identifier": "Ichthyosis, congenital, autosomal recessive 6.",
"acronym": "ARCI6.",
"accession": "DI-00583",
"synonyms": "Ichthyosis, congenital, autosomal recessive, ichthyin-related.; Ichthyosis, congenital, autosomal recessive, NIPAL4-related.; Ichthyosis congenital autosomal recessive.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis prematurity syndrome.",
"acronym": "IPS.",
"accession": "DI-02593",
"synonyms": "Ichthyosis congenita IV.; ",
"cross_references": "MeSH; D007057.",
"definition": "A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 5.",
"acronym": "ARCI5.",
"accession": "DI-00589",
"synonyms": "Ichthyosis congenita III.; Lamellar ichthyosis 3.; LI3.; NNCI.; Non-lamellar and non-erythrodermic congenital autosomal recessive ichthyosis.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 4A.",
"acronym": "ARCI4A.",
"accession": "DI-00588",
"synonyms": "Ichthyosis congenita IIB.; ICR2B.; Lamellar ichthyosis 2.; LI2.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis bullosa of Siemens.",
"acronym": "IBS.",
"accession": "DI-00582",
"synonyms": "Ichthyosis bullous type.; ",
"cross_references": "MeSH; D053560.",
"definition": "A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Mucolipidosis type II.",
"acronym": "MLII.",
"accession": "DI-01995",
"synonyms": "ICD.; I-cell disease.; Inclusion cell disease.; ",
"cross_references": "MedGen; C2673377.",
"definition": "Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. ",
"keywords": "KW-0942:Mucolipidosis.; "
},
{
"identifier": "Congenital myopathy 6 with ophthalmoplegia.",
"acronym": "CMYP6.",
"accession": "DI-01816",
"synonyms": "IBM3.; Inclusion body myopathy 3.; Inclusion body myopathy 3, autosomal dominant.; Myopathy, proximal, with ophthalmoplegia.; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles.; MYPOP.; Proximal myopathy and ophthalmoplegia.; ",
"cross_references": "MeSH; D018979.",
"definition": "A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive. ",
"keywords": null
},
{
"identifier": "Trichothiodystrophy 1, photosensitive.",
"acronym": "TTD1.",
"accession": "DI-01104",
"synonyms": "IBIDS syndrome.; Ichthyosiform erythroderma with hair abnormality and mental and growth retardation.; Ichthyosis, congenital, with trichothiodystrophy.; Ichthyosis with brittle hair, intellectual impairment, decreased fertility and short stature.; PIBIDS syndrome.; Tay syndrome.; Trichothiodystrophy photosensitive.; Trichothiodystrophy with congenital ichthyosis.; TTDP.; ",
"cross_references": "MeSH; D054463.",
"definition": "A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Leukocyte adhesion deficiency 3.",
"acronym": "LAD3.",
"accession": "DI-01898",
"synonyms": "IADD.; Integrin activation deficiency disease.; LAD1V.; Leukocyte adhesion deficiency 1 variant.; ",
"cross_references": "MedGen; C2748536.",
"definition": "A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. ",
"keywords": null
},
{
"identifier": "Hypotrichosis 13.",
"acronym": "HYPT13.",
"accession": "DI-04158",
"synonyms": "Hypotrichosis with woolly hair.; ",
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is an autosomal dominant form characterized by sparse woolly hair. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis congenital with juvenile macular dystrophy.",
"acronym": "HJMD.",
"accession": "DI-01803",
"synonyms": "Hypotrichosis with cone-rod dystrophy.; ",
"cross_references": "MeSH; D007039.",
"definition": "A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 4.",
"acronym": "HYPT4.",
"accession": "DI-02514",
"synonyms": "Hypotrichosis Marie Unna 1.; Marie Unna hereditary hypotrichosis type 1.; MUHH1.; ",
"cross_references": "MeSH; D007039.",
"definition": "An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 8.",
"acronym": "HYPT8.",
"accession": "DI-01913",
"synonyms": "Hypotrichosis localized autosomal recessive 3.; LAH3.; ",
"cross_references": "MeSH; D007039.",
"definition": "A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT8 inheritance is autosomal recessive. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Webb-Dattani syndrome.",
"acronym": "WEDAS.",
"accession": "DI-04175",
"synonyms": "Hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder characterized by postnatal microcephaly with fronto- temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. ",
"keywords": null
},
{
"identifier": "Pallister-Hall syndrome.",
"acronym": "PHS.",
"accession": "DI-02122",
"synonyms": "Hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly.; ",
"cross_references": "MeSH; D054975.",
"definition": "An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. ",
"keywords": null
},
{
"identifier": "Hypoplasia or aplasia of tibia with polydactyly.",
"acronym": "THYP.",
"accession": "DI-04241",
"synonyms": "Hypoplastic or aplastic tibia with polydactyly.; Tibia, hypoplasia or aplasia of, with polydactyly.; Tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia.; Werner mesomelic syndrome.; WMS.; ",
"cross_references": "MeSH; D017689.",
"definition": "An autosomal dominant disease characterized by hypoplastic or absent tibia, and polydactyly. ",
"keywords": null
},
{
"identifier": "Hypophosphatemic rickets, autosomal recessive, 2.",
"acronym": "ARHR2.",
"accession": "DI-02785",
"synonyms": "Hypophosphatemia autosomal recessive.; ",
"cross_references": "MeSH; D012279.",
"definition": "A hereditary form of hypophosphatemic rickets, a disorder of proximal renal tubule function that causes phosphate loss, hypophosphatemia and skeletal deformities, including rickets and osteomalacia unresponsive to vitamin D. Symptoms are bone pain, fractures and growth abnormalities. ",
"keywords": null
},
{
"identifier": "Neuropathy, congenital hypomyelinating, 2.",
"acronym": "CHN2.",
"accession": "DI-05376",
"synonyms": "Hypomyelinating neuropathy, congenital, 2.; ",
"cross_references": "MeSH; D015417.",
"definition": "A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "HELIX syndrome.",
"acronym": "HELIX.",
"accession": "DI-05081",
"synonyms": "Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Waardenburg syndrome 2E.",
"acronym": "WS2E.",
"accession": "DI-01137",
"synonyms": "Hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation.; Kallmann syndrome and deafness with or without hypopigmentation.; Waardenburg syndrome type 2E with or without neurologic involvement.; Waardenburg syndrome type IIE.; WS2E with or without neurologic involvement.; ",
"cross_references": "MeSH; D014849.",
"definition": "An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome. ",
"keywords": "KW-0897:Waardenburg syndrome.; KW-0956:Kallmann syndrome.; "
}
]
}