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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=600&ordering=-synonyms",
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"results": [
{
"identifier": "Atransferrinemia.",
"acronym": "ATRAF.",
"accession": "DI-00145",
"synonyms": null,
"cross_references": "MeSH; D008664.",
"definition": "A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 28.",
"acronym": "CMH28.",
"accession": "DI-06150",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Anemia, non-spherocytic hemolytic, due to G6PD deficiency.",
"acronym": "NSHA.",
"accession": "DI-01351",
"synonyms": null,
"cross_references": "MeSH; D000746.",
"definition": "A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Beaulieu-Boycott-Innes syndrome.",
"acronym": "BBIS.",
"accession": "DI-03901",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. ",
"keywords": null
},
{
"identifier": "Beck-Fahrner syndrome.",
"acronym": "BEFAHRS.",
"accession": "DI-05782",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Bleeding disorder, platelet-type, 25.",
"acronym": "BDPLT25.",
"accession": "DI-06751",
"synonyms": null,
"cross_references": "MeSH; D006470.",
"definition": "An autosomal dominant disorder characterized by increased bleeding tendency due to decreased or dysfunctional platelets. Platelet morphologic and functional defects are variable. Some individuals have normal numbers of enlarged platelets. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.",
"acronym": "CANVAS.",
"accession": "DI-05548",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length- dependent sensory deficit. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Cardiomyopathy, familial restrictive 1.",
"acronym": "RCM1.",
"accession": "DI-00246",
"synonyms": null,
"cross_references": "MeSH; D002313.",
"definition": "A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Anemia, sideroblastic, 3, pyridoxine-refractory.",
"acronym": "SIDBA3.",
"accession": "DI-04678",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Benign essential blepharospasm.",
"acronym": "BEB.",
"accession": "DI-00180",
"synonyms": null,
"cross_references": "MeSH; D001764.",
"definition": "A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Bent bone dysplasia syndrome 1.",
"acronym": "BBDS1.",
"accession": "DI-03429",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. ",
"keywords": null
},
{
"identifier": "Bent bone dysplasia syndrome 2.",
"acronym": "BBDS2.",
"accession": "DI-06527",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function. ",
"keywords": null
},
{
"identifier": "Anemia, sideroblastic, 5.",
"acronym": "SIDBA5.",
"accession": "DI-06225",
"synonyms": null,
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 5.",
"acronym": "BMFS5.",
"accession": "DI-05371",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures. ",
"keywords": null
},
{
"identifier": "Alazami-Yuan syndrome.",
"acronym": "ALYUS.",
"accession": "DI-04825",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiofaciocutaneous syndrome 3.",
"acronym": "CFC3.",
"accession": "DI-03780",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Carpal tunnel syndrome 2.",
"acronym": "CTS2.",
"accession": "DI-06003",
"synonyms": null,
"cross_references": "MeSH; D002349.",
"definition": "An autosomal dominant form of carpal tunnel syndrome, a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. ",
"keywords": null
},
{
"identifier": "Beta-ureidopropionase deficiency.",
"acronym": "UPB1D.",
"accession": "DI-01276",
"synonyms": null,
"cross_references": "MeSH; D011686.",
"definition": "An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. ",
"keywords": null
},
{
"identifier": "Anencephaly 2.",
"acronym": "ANPH2.",
"accession": "DI-06156",
"synonyms": null,
"cross_references": "MeSH; D000757.",
"definition": "A form of anencephaly, an extreme neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH2 features may also include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. ANPH2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.",
"acronym": "CHILD.",
"accession": "DI-00357",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. ",
"keywords": "KW-0977:Ichthyosis.; "
}
]
}