Human Disease List
GET /api/human_diseases/?format=api&offset=6640&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6660&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6620&ordering=-identifier", "results": [ { "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 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": "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": "Acrokeratosis verruciformis.", "acronym": "AKV.", "accession": "DI-00030", "synonyms": "Hopf disease.; ", "cross_references": "MeSH; D007642.", "definition": "A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease. ", "keywords": null }, { "identifier": "Acrofacial dysostosis, Weyers type.", "acronym": "WAD.", "accession": "DI-00029", "synonyms": "Acrodental dysostosis of Weyers.; Curry-Hall syndrome.; Weyers acrofacial dysostosis.; ", "cross_references": "MeSH; D004413.", "definition": "An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome. ", "keywords": null }, { "identifier": "Acrofacial dysostosis, Cincinnati type.", "acronym": "AFDCIN.", "accession": "DI-04483", "synonyms": null, "cross_references": "MeSH; D008342.", "definition": "A form of acrofacial dysostosis, a group of disorders characterized by malformations of the craniofacial skeleton and, in some patients, the limbs. AFDCIN patients may also have structural cardiac defects and neurologic abnormalities including developmental delay, hypotonia, motor delay and seizures. AFDCIN inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Acrofacial dysostosis 1, Nager type.", "acronym": "AFD1.", "accession": "DI-03474", "synonyms": "AFD Nager type.; Mandibulofacial dysostosis Treacher Collins type with limb anomalies.; Nager acrofacial dysostosis.; Nager syndrome.; ", "cross_references": "MeSH; D008342.", "definition": "A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. ", "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": "Acrodysostosis 1, with or without hormone resistance.", "acronym": "ACRDYS1.", "accession": "DI-03459", "synonyms": "ADOHR.; Arkless-Graham syndrome.; Maroteaux-Malamut syndrome.; ", "cross_references": "MeSH; D004413.", "definition": "A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities. ", "keywords": null }, { "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": "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": "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": "Acrocallosal syndrome.", "acronym": "ACLS.", "accession": "DI-00025", "synonyms": "Hallux duplication postaxial polydactyly and absence of corpus callosum.; Schinzel acrocallosal syndrome.; ", "cross_references": "MeSH; D055673.", "definition": "An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and intellectual disability. ", "keywords": "KW-1186:Ciliopathy.; " }, { "identifier": "Acne inversa, familial, 3.", "acronym": "ACNINV3.", "accession": "DI-02997", "synonyms": "Acne inversa familial.; Hidradenitis suppurativa familial.; ", "cross_references": "MeSH; D017497.", "definition": "A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. ", "keywords": null }, { "identifier": "Acne inversa, familial, 2, with or without Dowling-Degos disease.", "acronym": "ACNINV2.", "accession": "DI-02996", "synonyms": "Acne inversa familial.; Hidradenitis suppurativa familial.; ", "cross_references": "MeSH; D017497.", "definition": "An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling- Degos disease. ", "keywords": null }, { "identifier": "Acne inversa, familial, 1.", "acronym": "ACNINV1.", "accession": "DI-02995", "synonyms": "Acne inversa familial.; Hidradenitis suppurativa familial.; ", "cross_references": "MeSH; D017497.", "definition": "A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. ", "keywords": null }, { "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": "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": "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": "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 } ] }