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=860&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=820&ordering=-synonyms",
"results": [
{
"identifier": "Adams-Oliver syndrome 5.",
"acronym": "AOS5.",
"accession": "DI-04227",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate D.",
"acronym": "CMTDID.",
"accession": "DI-00266",
"synonyms": null,
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Carey-Fineman-Ziter syndrome 2.",
"acronym": "CFZS2.",
"accession": "DI-06467",
"synonyms": null,
"cross_references": "MeSH; D020331.",
"definition": "An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Some patients manifest failure to thrive, axial hypotonia, and progressive scoliosis. ",
"keywords": null
},
{
"identifier": "Alzheimer disease mitochondrial.",
"acronym": "AD-MT.",
"accession": "DI-02761",
"synonyms": null,
"cross_references": "MeSH; D000544.",
"definition": "Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ",
"keywords": "KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "
},
{
"identifier": "Carney complex variant.",
"acronym": "CACOV.",
"accession": "DI-01320",
"synonyms": null,
"cross_references": "MedGen; C1837245.",
"definition": "Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. ",
"keywords": null
},
{
"identifier": "Ciliary dyskinesia, primary, 47, and lissencephaly.",
"acronym": "CILD47.",
"accession": "DI-06185",
"synonyms": null,
"cross_references": "MeSH; D002925.",
"definition": "A form of primary ciliary dyskinesia, 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. CILD47 is an autosomal recessive form characterized by onset soon after birth or in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. No situs abnormalities have been observed. ",
"keywords": "KW-0451:Lissencephaly.; KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Cone-rod dystrophy 20.",
"acronym": "CORD20.",
"accession": "DI-04189",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Chordoma.",
"acronym": "CHDM.",
"accession": "DI-02579",
"synonyms": null,
"cross_references": "MeSH; D002817.",
"definition": "Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread. ",
"keywords": null
},
{
"identifier": "Charcot-Marie-Tooth disease, dominant intermediate C.",
"acronym": "CMTDIC.",
"accession": "DI-00265",
"synonyms": null,
"cross_references": "MeSH; D002607.",
"definition": "A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type C is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Cataract, multiple types 19.",
"acronym": "CTRCT19.",
"accession": "DI-03783",
"synonyms": null,
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Atrial fibrillation, familial, 10.",
"acronym": "ATFB10.",
"accession": "DI-03122",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Amegakaryocytic thrombocytopenia, congenital, 1.",
"acronym": "CAMT1.",
"accession": "DI-01388",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. ",
"keywords": null
},
{
"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": "Atrial fibrillation, familial, 11.",
"acronym": "ATFB11.",
"accession": "DI-03142",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Carpenter syndrome 2.",
"acronym": "CRPT2.",
"accession": "DI-03635",
"synonyms": null,
"cross_references": "MeSH; D000168.",
"definition": "An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Caspase-8 deficiency.",
"acronym": "CASP8D.",
"accession": "DI-01326",
"synonyms": null,
"cross_references": "MedGen; C1846545.",
"definition": "Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95- induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. ",
"keywords": null
},
{
"identifier": "Atrial fibrillation, familial, 13.",
"acronym": "ATFB13.",
"accession": "DI-03855",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Amegakaryocytic thrombocytopenia, congenital, 2.",
"acronym": "CAMT2.",
"accession": "DI-06746",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. CAMT2 is an autosomal recessive form. Most patients present with thrombocytopenia that progresses to pancytopenia. ",
"keywords": null
},
{
"identifier": "Atrial fibrillation, familial, 14.",
"acronym": "ATFB14.",
"accession": "DI-03856",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Duane retraction syndrome 2.",
"acronym": "DURS2.",
"accession": "DI-01506",
"synonyms": null,
"cross_references": "MeSH; D004370.",
"definition": "A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. ",
"keywords": null
}
]
}