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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6280&ordering=synonyms",
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"results": [
{
"identifier": "Pycnodysostosis.",
"acronym": "PKND.",
"accession": "DI-00964",
"synonyms": null,
"cross_references": "MeSH; D058631.",
"definition": "A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone. ",
"keywords": null
},
{
"identifier": "Spondylocostal dysostosis 6, autosomal recessive.",
"acronym": "SCDO6.",
"accession": "DI-04516",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "A form of spondylocostal dysostosis, a condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Pulmonary hypertension, primary, 6.",
"acronym": "PPH6.",
"accession": "DI-06877",
"synonyms": null,
"cross_references": "MeSH; D006976.",
"definition": "A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH6 is an autosomal recessive form. ",
"keywords": null
},
{
"identifier": "Pulmonary hypertension, primary, 5.",
"acronym": "PPH5.",
"accession": "DI-06437",
"synonyms": null,
"cross_references": "MeSH; D006976.",
"definition": "A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH5 is an autosomal recessive form characterized by the onset in infancy. Death in early childhood is common. ",
"keywords": null
},
{
"identifier": "Pulmonary hypertension, primary, 4.",
"acronym": "PPH4.",
"accession": "DI-03837",
"synonyms": null,
"cross_references": "MeSH; D006976.",
"definition": "A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. ",
"keywords": null
},
{
"identifier": "Pulmonary hypertension, primary, 3.",
"acronym": "PPH3.",
"accession": "DI-03836",
"synonyms": null,
"cross_references": "MeSH; D006976.",
"definition": "A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Di Rocco type.",
"acronym": "SEMDDR.",
"accession": "DI-05247",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.",
"acronym": "SEMDFA.",
"accession": "DI-04587",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Pulmonary hypertension, primary, 2.",
"acronym": "PPH2.",
"accession": "DI-03835",
"synonyms": null,
"cross_references": "MeSH; D006976.",
"definition": "A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Guo-Campeau type.",
"acronym": "SEMDGC.",
"accession": "DI-06817",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive, severe bone disease characterized by short stature, scoliosis, platyspondyly, irregular vertebral plates, facial dysmorphism, and variable anomalies of the pelvis, hips, and extremities including short, rudimentary, or absent digits. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type.",
"acronym": "SEMDIST.",
"accession": "DI-05729",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Pulmonary hypertension, primary, 1.",
"acronym": "PPH1.",
"accession": "DI-00942",
"synonyms": null,
"cross_references": "MeSH; D006976.",
"definition": "A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. ",
"keywords": null
},
{
"identifier": "Pulmonary hypertension, neonatal.",
"acronym": "PHN.",
"accession": "DI-03858",
"synonyms": null,
"cross_references": "MeSH; D006976.",
"definition": "A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease. ",
"keywords": null
},
{
"identifier": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 8.",
"acronym": "PFBMFT8.",
"accession": "DI-06678",
"synonyms": null,
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT8 is characterized by the onset of progressive pulmonary fibrosis in adulthood, signs of bone marrow failure, such as thrombocytopenia, liver dysfunction, and features of dyskeratosis congenita, including premature graying of the hair, in some affected individuals. ",
"keywords": null
},
{
"identifier": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 7.",
"acronym": "PFBMFT7.",
"accession": "DI-06677",
"synonyms": null,
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT7 patients manifest anemia, lymphopenia, liver involvement with portal hypertension and hepatopulmonary syndrome, premature graying of the hair, nail dystrophy, and predisposition to squamous cell cancers or myelodysplasia. ",
"keywords": null
},
{
"identifier": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6.",
"acronym": "PFBMFT6.",
"accession": "DI-06355",
"synonyms": null,
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. ",
"keywords": null
},
{
"identifier": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 5.",
"acronym": "PFBMFT5.",
"accession": "DI-05708",
"synonyms": null,
"cross_references": "MeSH; D011658.",
"definition": "A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT5 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4.",
"acronym": "PFBMFT4.",
"accession": "DI-04430",
"synonyms": null,
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy.",
"acronym": "SEMDHL.",
"accession": "DI-05710",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3.",
"acronym": "PFBMFT3.",
"accession": "DI-04431",
"synonyms": null,
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. ",
"keywords": null
}
]
}