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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=100&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=60&ordering=identifier",
"results": [
{
"identifier": "Acromelic frontonasal dysostosis.",
"acronym": "AFND.",
"accession": "DI-04203",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V- shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. ",
"keywords": null
},
{
"identifier": "Acromesomelic dysplasia 1.",
"acronym": "AMD1.",
"accession": "DI-00034",
"synonyms": "Acromesomelic dysplasia, Maroteaux type.; AMDM.; St. Helena dysplasia.; ",
"cross_references": "MeSH; D004392.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acromesomelic dysplasia 2A.",
"acronym": "AMD2A.",
"accession": "DI-00031",
"synonyms": "Achondrogenesis, Brazilian.; Achondrogenesis, type II.; Acromesomelic chondrodysplasia, Grebe type.; AMDG.; Grebe chondrodysplasia.; Grebe dysplasia.; ",
"cross_references": "MeSH; D004392.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2A is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acromesomelic dysplasia 2B.",
"acronym": "AMD2B.",
"accession": "DI-01505",
"synonyms": "DUPANS.; Du Pan syndrome.; Fibular hypoplasia and complex brachydactyly.; ",
"cross_references": "MeSH; D059327.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2B is an autosomal recessive form characterized by acromesomelic limb shortening with severe reduction or absence of the fibula, and severe hand and feet abnormalities including complex brachydactyly. ",
"keywords": null
},
{
"identifier": "Acromesomelic dysplasia 2C.",
"acronym": "AMD2C.",
"accession": "DI-00032",
"synonyms": "Acromesomelic chondrodysplasia, Hunter-Thompson type.; AMDH.; ",
"cross_references": "MeSH; D004392.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2C is an autosomal recessive form characterized by skeletal abnormalities restricted to the limbs. The craniofacial skeleton and axial skeletal structures are normal. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acromesomelic dysplasia 3.",
"acronym": "AMD3.",
"accession": "DI-00033",
"synonyms": "Acromesomelic chondrodysplasia, with genital anomalies.; Acromesomelic dysplasia, Demirhan type.; AMDD.; Chondrodysplasia, acromesomelic, with or without genital anomalies.; ",
"cross_references": "MeSH; D010009.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD3 is an autosomal recessive form characterized by bilateral aplasia of the fibula, severe brachydactyly, and fusion of carpal and tarsal bones. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acromesomelic dysplasia 4.",
"acronym": "AMD4.",
"accession": "DI-06276",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acromicric dysplasia.",
"acronym": "ACMICD.",
"accession": "DI-03225",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "ACTH deficiency, isolated.",
"acronym": "IAD.",
"accession": "DI-00035",
"synonyms": "Adrenocorticotropic hormone deficiency.; ",
"cross_references": "MeSH; D007018.",
"definition": "An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. ",
"keywords": null
},
{
"identifier": "ACTH-independent macronodular adrenal hyperplasia 1.",
"acronym": "AIMAH1.",
"accession": "DI-01167",
"synonyms": "ACTH-independent Cushing syndrome.; ACTH-independent macronodular adrenocortical hyperplasia.; Adrenal Cushing syndrome due to AIMAH.; Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia.; Corticotropin-independent macronodular adrenal hyperplasia.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare adrenal defect characterized by multiple, bilateral, non- pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent 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": "ACTH-independent macronodular adrenal hyperplasia 2.",
"acronym": "AIMAH2.",
"accession": "DI-04195",
"synonyms": "Primary macronodular adrenal hyperplasia.; ",
"cross_references": "MeSH; D003480.",
"definition": "A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent 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": "Acute hepatic porphyria.",
"acronym": "AHEPP.",
"accession": "DI-00036",
"synonyms": "ALAD deficiency.; Delta-aminolevulinate dehydratase deficiency.; Doss porphyria.; Porphobilinogen synthase deficiency.; Porphyria ALAD.; ",
"cross_references": "MeSH; D017094.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. ",
"keywords": null
},
{
"identifier": "Acute intermittent porphyria.",
"acronym": "AIP.",
"accession": "DI-00037",
"synonyms": "PBGD deficiency.; Porphobilinogen deaminase deficiency.; Porphyria, Swedish type.; UPS deficiency.; Uroporphyrinogen synthase deficiency.; ",
"cross_references": "MeSH; D017118.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. ",
"keywords": null
},
{
"identifier": "Acyl-CoA dehydrogenase medium-chain deficiency.",
"acronym": "ACADMD.",
"accession": "DI-01956",
"synonyms": "ACADM deficiency.; Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency.; MCAD deficiency.; MCADH deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy. ",
"keywords": null
},
{
"identifier": "Acyl-CoA dehydrogenase short-chain deficiency.",
"acronym": "ACADSD.",
"accession": "DI-02301",
"synonyms": "ACADS deficiency.; Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency.; SCAD deficiency.; SCADH deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid- storage myopathy in adults. ",
"keywords": null
},
{
"identifier": "Acyl-CoA dehydrogenase very long-chain deficiency.",
"acronym": "ACADVLD.",
"accession": "DI-02411",
"synonyms": "ACADL deficiency.; Acyl-CoA dehydrogenase long-chain deficiency.; LCAD deficiency.; VLCAD deficiency.; ",
"cross_references": "MeSH; D008052.",
"definition": "An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. ",
"keywords": null
},
{
"identifier": "Adams-Oliver syndrome 1.",
"acronym": "AOS1.",
"accession": "DI-03194",
"synonyms": "Absence defect of limbs scalp and skull.; Aplasia cutis congenita with terminal transverse limb defects.; Congenital scalp defects with distal limb reduction anomalies.; ",
"cross_references": "MeSH; D017880.",
"definition": "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": "Adams-Oliver syndrome 2.",
"acronym": "AOS2.",
"accession": "DI-03223",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "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": "Adams-Oliver syndrome 3.",
"acronym": "AOS3.",
"accession": "DI-03522",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant 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. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. ",
"keywords": null
},
{
"identifier": "Adams-Oliver syndrome 4.",
"acronym": "AOS4.",
"accession": "DI-03817",
"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
}
]
}