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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5300&ordering=-synonyms",
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"results": [
{
"identifier": "Cyclic haematopoiesis.",
"acronym": "CH.",
"accession": "DI-01463",
"synonyms": "Cyclic neutropenia.; ",
"cross_references": "MeSH; D009503.",
"definition": "Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency. ",
"keywords": null
},
{
"identifier": "Occipital horn syndrome.",
"acronym": "OHS.",
"accession": "DI-00880",
"synonyms": "Cutis laxa X-linked.; EDS9.; Ehlers-Danlos syndrome occipital horn type.; ",
"cross_references": "MeSH; D003483.",
"definition": "An X-linked recessive disorder of copper metabolism. Common features are unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary defects. The skeletal abnormalities include occipital horns, short, broad clavicles, deformed radii, ulnae and humeri, narrowing of the rib cage, undercalcified long bones with thin cortical walls and coxa valga. ",
"keywords": null
},
{
"identifier": "Urban-Rifkin-Davis syndrome.",
"acronym": "URDS.",
"accession": "DI-02872",
"synonyms": "Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities.; ",
"cross_references": "MeSH; D003483.",
"definition": "A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 3B.",
"acronym": "ARCL3B.",
"accession": "DI-03319",
"synonyms": "Cutis laxa autosomal recessive type IIIB.; De Barsy syndrome B.; ",
"cross_references": "MeSH; D003483.",
"definition": "A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 3A.",
"acronym": "ARCL3A.",
"accession": "DI-03310",
"synonyms": "Cutis laxa autosomal recessive type IIIA.; De Barsy syndrome.; De Barsy syndrome A.; Developmental delay-choreoathetosis-joint dislocation-lax skin.; Neurocutaneous syndrome Bicknell type.; Progeroid syndrome of De Barsy.; ",
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cutis laxa, autosomal recessive, 2E.",
"acronym": "ARCL2E.",
"accession": "DI-06173",
"synonyms": "Cutis laxa, autosomal recessive, type IIE.; ",
"cross_references": "MeSH; D003483.",
"definition": "A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. ARCL2E patients present with cutis laxa, inguinal hernia, craniofacial dysmorphology, variable heart defects, and prominent skeletal features including craniosynostosis, short stature, brachydactyly, and syndactyly. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 2D.",
"acronym": "ARCL2D.",
"accession": "DI-04975",
"synonyms": "Cutis laxa, autosomal recessive, type IID.; ",
"cross_references": "MeSH; D003483.",
"definition": "A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 2C.",
"acronym": "ARCL2C.",
"accession": "DI-04974",
"synonyms": "Cutis laxa autosomal recessive, type IIC.; ",
"cross_references": "MeSH; D003483.",
"definition": "A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement. ",
"keywords": null
},
{
"identifier": "Cutis laxa, autosomal recessive, 1B.",
"acronym": "ARCL1B.",
"accession": "DI-03318",
"synonyms": "Cutis laxa autosomal recessive type IB.; ",
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 9.",
"acronym": "CMM9.",
"accession": "DI-03701",
"synonyms": "Cutaneous malignant melanoma 9.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 8.",
"acronym": "CMM8.",
"accession": "DI-03341",
"synonyms": "Cutaneous malignant melanoma 8.; Susceptibility to melanoma and renal cell carcinoma.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 6.",
"acronym": "CMM6.",
"accession": "DI-03126",
"synonyms": "Cutaneous malignant melanoma 6.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 5.",
"acronym": "CMM5.",
"accession": "DI-02516",
"synonyms": "Cutaneous malignant melanoma 5.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 3.",
"acronym": "CMM3.",
"accession": "DI-01460",
"synonyms": "Cutaneous malignant melanoma 3.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Melanoma, cutaneous malignant 2.",
"acronym": "CMM2.",
"accession": "DI-01459",
"synonyms": "Cutaneous malignant melanoma 2.; ",
"cross_references": "MeSH; D008545.",
"definition": "A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but may also involve other sites. ",
"keywords": null
},
{
"identifier": "Histiocytosis-lymphadenopathy plus syndrome.",
"acronym": "HLAS.",
"accession": "DI-01692",
"synonyms": "Cutaneous hyperpigmentation with hypertrichosis hepatosplenomegaly heart anomalies and hypogonadism with or without hearing loss.; Faisalabad histiocytosis.; Familial Rosai-Dorfman disease.; Histiocytosis and lymphadenopathy with or without cutaneous cardiac and/or endocrine features joint contractures and/or deafness.; Histiocytosis with joint contractures and sensorineural deafness.; HJCD.; H syndrome.; PHID.; Pigmented hypertrichosis with insulin-dependent diabetes mellitus.; SHML.; Sinus histiocytosis and massive lymphadenopathy.; ",
"cross_references": "MeSH; D015618.",
"definition": "A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome. ",
"keywords": null
},
{
"identifier": "Symphalangism, proximal 1A.",
"acronym": "SYM1A.",
"accession": "DI-02350",
"synonyms": "Cushing symphalangism.; Hereditary absence of the proximal interphalangeal joints.; SYM1.; ",
"cross_references": "MeSH; D007592.",
"definition": "A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. ",
"keywords": null
},
{
"identifier": "Pituitary adenoma 4, ACTH-secreting.",
"acronym": "PITA4.",
"accession": "DI-01168",
"synonyms": "Cushing disease.; Pituitary Cushing disease.; ",
"cross_references": "MeSH; D049913.",
"definition": "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA4 results in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "CHAND syndrome.",
"acronym": "CHANDS.",
"accession": "DI-05366",
"synonyms": "Curly hair, ankyloblepharon, nail dysplasia syndrome.; ",
"cross_references": "MeSH; D009264.",
"definition": "An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Carpal tunnel syndrome 1.",
"acronym": "CTS1.",
"accession": "DI-02811",
"synonyms": "CTS.; Median neuropathy carpal tunnel.; Thenar amyotrophy of carpal origin.; ",
"cross_references": "MeSH; D002349.",
"definition": "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
}
]
}