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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=40&ordering=-synonyms",
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"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": "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
},
{
"identifier": "Acrodermatitis enteropathica, zinc-deficiency type.",
"acronym": "AEZ.",
"accession": "DI-00027",
"synonyms": null,
"cross_references": "MeSH; D000169.",
"definition": "A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. ",
"keywords": null
},
{
"identifier": "Achromatopsia 4.",
"acronym": "ACHM4.",
"accession": "DI-01166",
"synonyms": null,
"cross_references": "MeSH; D003117.",
"definition": "An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ",
"keywords": null
},
{
"identifier": "Achromatopsia 5.",
"acronym": "ACHM5.",
"accession": "DI-05080",
"synonyms": null,
"cross_references": "MeSH; D003117.",
"definition": "A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Ablepharon-macrostomia syndrome.",
"acronym": "AMS.",
"accession": "DI-04542",
"synonyms": null,
"cross_references": "MeSH; D008265.",
"definition": "A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "46,XX sex reversal 5.",
"acronym": "SRXX5.",
"accession": "DI-05853",
"synonyms": null,
"cross_references": "MeSH; D058531.",
"definition": "A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Acrocapitofemoral dysplasia.",
"acronym": "ACFD.",
"accession": "DI-00026",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles. ",
"keywords": null
},
{
"identifier": "46,XY gonadal dysgenesis with minifascicular neuropathy.",
"acronym": "GDMN.",
"accession": "DI-02146",
"synonyms": null,
"cross_references": "MeSH; D006061.",
"definition": "An autosomal recessive disorder characterized by gonadal dysgenesis associated with polyneuropathy. Genital anomalies include the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity. ",
"keywords": null
},
{
"identifier": "Abdominal obesity-metabolic syndrome 4.",
"acronym": "AOMS4.",
"accession": "DI-05676",
"synonyms": null,
"cross_references": "MeSH; D024821.",
"definition": "A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "
},
{
"identifier": "2,4-dienoyl-CoA reductase deficiency.",
"acronym": "DECRD.",
"accession": "DI-04240",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. ",
"keywords": null
},
{
"identifier": "Acrodysostosis 2, with or without hormone resistance.",
"acronym": "ACRDYS2.",
"accession": "DI-03460",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. ",
"keywords": null
},
{
"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": "Achondroplasia.",
"acronym": "ACH.",
"accession": "DI-00021",
"synonyms": null,
"cross_references": "MeSH; D000130.",
"definition": "A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Acro-dermato-ungual-lacrimal-tooth syndrome.",
"acronym": "ADULT syndrome.",
"accession": "DI-00028",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Acid-labile subunit deficiency.",
"acronym": "ACLSD.",
"accession": "DI-04198",
"synonyms": null,
"cross_references": "MeSH; D006130.",
"definition": "A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. ",
"keywords": null
},
{
"identifier": "Glomuvenous malformations.",
"acronym": "GVMs.",
"accession": "DI-01668",
"synonyms": null,
"cross_references": "MedGen; C1841984.",
"definition": "Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. ",
"keywords": null
},
{
"identifier": "Achromatopsia 7.",
"acronym": "ACHM7.",
"accession": "DI-04499",
"synonyms": null,
"cross_references": "MeSH; D003117.",
"definition": "A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ",
"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": "Albright hereditary osteodystrophy.",
"acronym": "AHO.",
"accession": "DI-00073",
"synonyms": null,
"cross_references": "MeSH; D011547.",
"definition": "A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. ",
"keywords": "KW-0242:Dwarfism.; KW-0550:Obesity.; "
}
]
}