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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2320&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2280&ordering=synonyms",
"results": [
{
"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 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 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": "IFAP syndrome 1, with or without Bresheck syndrome.",
"acronym": "IFAP1.",
"accession": "DI-02540",
"synonyms": "Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia.; Ichthyosis follicularis-atrichia-photophobia syndrome.; ",
"cross_references": "MeSH; D020795.",
"definition": "An X-linked syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis histrix, Lambert type.",
"acronym": "IHL.",
"accession": "DI-06555",
"synonyms": "Ichthyosis hystrix gravior.; Porcupine man.; ",
"cross_references": "MeSH; D007057.",
"definition": "An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. IHL is characterized by normal skin at birth that develops striking spiny hyperkeratotic lesions within a few months. There is sparing of the face, palms, and soles, and affected individuals do not experience blistering. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis vulgaris.",
"acronym": "VI.",
"accession": "DI-00591",
"synonyms": "Ichthyosis simplex.; ",
"cross_references": "MeSH; D016112.",
"definition": "The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis-sclerosing cholangitis neonatal syndrome.",
"acronym": "NISCH.",
"accession": "DI-00590",
"synonyms": "Ichthyosis with leukocyte vacuoles, alopecia and sclerosing cholangitis.; ILVASC.; NISCH syndrome.; ",
"cross_references": "MeSH; D007057.",
"definition": "A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Immunodeficiency 13.",
"acronym": "IMD13.",
"accession": "DI-03941",
"synonyms": "ICL.; Idiopathic CD4 lymphopenia.; ",
"cross_references": "MeSH; D007153.",
"definition": "A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy. ",
"keywords": null
},
{
"identifier": "Ciliary dyskinesia, primary, 10.",
"acronym": "CILD10.",
"accession": "DI-00934",
"synonyms": "ICS10.; Immotile cilia syndrome 10.; Primary ciliary dyskinesia 10 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 11.",
"acronym": "CILD11.",
"accession": "DI-02199",
"synonyms": "ICS11.; Immotile cilia syndrome 11.; Primary ciliary dyskinesia 11 without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 12.",
"acronym": "CILD12.",
"accession": "DI-02200",
"synonyms": "ICS12.; Immotile cilia syndrome 12.; Primary ciliary dyskinesia 12 without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 13.",
"acronym": "CILD13.",
"accession": "DI-02569",
"synonyms": "ICS13.; Immotile cilia syndrome 13.; Primary ciliary dyskinesia 13 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 14.",
"acronym": "CILD14.",
"accession": "DI-03024",
"synonyms": "ICS14.; Immotile cilia syndrome 14.; Primary ciliary dyskinesia 14 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 15.",
"acronym": "CILD15.",
"accession": "DI-03025",
"synonyms": "ICS15.; Immotile cilia syndrome 15.; Primary ciliary dyskinesia 15 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 16.",
"acronym": "CILD16.",
"accession": "DI-03134",
"synonyms": "ICS16.; Immotile cilia syndrome 16.; Primary ciliary dyskinesia 16 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 17.",
"acronym": "CILD17.",
"accession": "DI-03466",
"synonyms": "ICS17.; Immotile cilia syndrome 17.; Primary ciliary dyskinesia 17 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 18.",
"acronym": "CILD18.",
"accession": "DI-03539",
"synonyms": "ICS18.; Immotile cilia syndrome 18.; Primary ciliary dyskinesia 18 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 19.",
"acronym": "CILD19.",
"accession": "DI-03564",
"synonyms": "ICS19.; Immotile cilia syndrome 19.; Primary ciliary dyskinesia 19 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 1.",
"acronym": "CILD1.",
"accession": "DI-00929",
"synonyms": "ICS1.; Immotile cilia syndrome 1.; PCD.; Primary ciliary dyskinesia.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 20.",
"acronym": "CILD20.",
"accession": "DI-03643",
"synonyms": "ICS20.; Immotile cilia syndrome 20.; Primary ciliary dyskinesia 20 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile. ",
"keywords": "KW-1012:Kartagener syndrome.; "
}
]
}