HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6680&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6640&ordering=synonyms",
"results": [
{
"identifier": "Noonan syndrome-like disorder with loose anagen hair 2.",
"acronym": "NSLH2.",
"accession": "DI-05011",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair. ",
"keywords": null
},
{
"identifier": "Weiss-Kruszka syndrome.",
"acronym": "WSKA.",
"accession": "DI-05675",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 9.",
"acronym": "NS9.",
"accession": "DI-04518",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ",
"keywords": null
},
{
"identifier": "Werner syndrome.",
"acronym": "WRN.",
"accession": "DI-01145",
"synonyms": null,
"cross_references": "MeSH; D014898.",
"definition": "A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 8.",
"acronym": "NS8.",
"accession": "DI-03849",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 7.",
"acronym": "NS7.",
"accession": "DI-02990",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 6.",
"acronym": "NS6.",
"accession": "DI-02558",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ",
"keywords": null
},
{
"identifier": "White sponge nevus 2.",
"acronym": "WSN2.",
"accession": "DI-04113",
"synonyms": null,
"cross_references": "MeSH; D053529.",
"definition": "A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 5.",
"acronym": "NS5.",
"accession": "DI-02075",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 4.",
"acronym": "NS4.",
"accession": "DI-02074",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 3.",
"acronym": "NS3.",
"accession": "DI-02073",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. ",
"keywords": null
},
{
"identifier": "Wieacker-Wolff syndrome, female-restricted.",
"acronym": "WRWFFR.",
"accession": "DI-05800",
"synonyms": null,
"cross_references": "MeSH; D009886.",
"definition": "An X-linked dominant neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero resulting in fetal akinesia, arthrogryposis multiplex congenita and diffuse contractures apparent at birth, global developmental delay with difficulty walking or inability to walk, hypotonia, variably impaired intellectual development, poor or absent speech and language, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Noonan syndrome 14.",
"acronym": "NS14.",
"accession": "DI-06344",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. NS14 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 13.",
"acronym": "NS13.",
"accession": "DI-05961",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS13 inheritance is autosomal dominant. There is considerable variability in severity. ",
"keywords": null
},
{
"identifier": "Wilms tumor 1.",
"acronym": "WT1.",
"accession": "DI-02421",
"synonyms": null,
"cross_references": "MedGen; C0027708.",
"definition": "Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 12.",
"acronym": "NS12.",
"accession": "DI-05677",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS12 inheritance is autosomal dominant. There is considerable variability in severity. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 11.",
"acronym": "NS11.",
"accession": "DI-05614",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS11 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Winchester syndrome.",
"acronym": "WNCHRS.",
"accession": "DI-03898",
"synonyms": null,
"cross_references": "MeSH; D010024.",
"definition": "A disease characterized by severe osteolysis in the hands and feet, generalized osteoporosis, bone thinning, and absence of subcutaneous nodules. Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes. ",
"keywords": "KW-1285:Osteoporosis.; "
},
{
"identifier": "Noonan syndrome 10.",
"acronym": "NS10.",
"accession": "DI-04517",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS10 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Non-syndromic orofacial cleft 15.",
"acronym": "OFC15.",
"accession": "DI-04616",
"synonyms": null,
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant. ",
"keywords": null
}
]
}