Human Disease List
GET /api/human_diseases/?format=api&offset=3160&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3180&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3140&ordering=-identifier", "results": [ { "identifier": "Kilquist syndrome.", "acronym": "KILQS.", "accession": "DI-05956", "synonyms": null, "cross_references": "MeSH; D008607.", "definition": "An autosomal recessive, multisystem disorder characterized by severe global developmental delay, sensorineural hearing loss, poor overall growth, mild facial dysmorphism, gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, and a striking lack of tear fluid, saliva, and sweat. ", "keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; " }, { "identifier": "Khan-Khan-Katsanis syndrome.", "acronym": "3KS.", "accession": "DI-05588", "synonyms": "3K syndrome.; ", "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay. ", "keywords": null }, { "identifier": "Keutel syndrome.", "acronym": "KTLS.", "accession": "DI-01864", "synonyms": null, "cross_references": "MedGen; C1855607.", "definition": "An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia. ", "keywords": null }, { "identifier": "Keratosis, seborrheic.", "acronym": "KERSEB.", "accession": "DI-00625", "synonyms": null, "cross_references": "MeSH; D017492.", "definition": "A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. ", "keywords": null }, { "identifier": "Keratosis pilaris atrophicans.", "acronym": "KPA.", "accession": "DI-04889", "synonyms": null, "cross_references": "MeSH; D007642.", "definition": "A group of rare genodermatoses characterized by keratotic follicular papules, variable degrees of inflammation, and secondary atrophic scarring. Most cases are associated with an atopic diathesis and keratosis pilaris on the extensor extremities. KPA is comprised of three distinct clinical subtypes: keratosis pilaris atrophicans faciei, atrophoderma vermiculatum, and keratosis follicularis spinulosa decalvans. Affected individuals may present with features overlapping the 3 subtypes. ", "keywords": null }, { "identifier": "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.", "acronym": "KLICK.", "accession": "DI-02805", "synonyms": "KLICK genodermatosis.; KLICK syndrome.; ", "cross_references": "MeSH; D007642.", "definition": "A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. ", "keywords": "KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratosis follicularis spinulosa decalvans X-linked.", "acronym": "KFSDX.", "accession": "DI-01862", "synonyms": "Keratosis follicularis spinulosa decalvans cum ophiasi.; Siemens-1 syndrome.; ", "cross_references": "MeSH; D007642.", "definition": "A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. ", "keywords": null }, { "identifier": "Keratolytic winter erythema.", "acronym": "KWE.", "accession": "DI-05321", "synonyms": "Erythrokeratolysis hiemalis.; Oudtshoorn skin disease.; ", "cross_references": "MeSH; D004890.", "definition": "An autosomal dominant genodermatosis characterized by recurrent episodes of palmoplantar erythema and epidermal peeling presenting seasonal variation. KWE manifests during childhood. Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin can appear unremarkable. Itching can occur, and hyperhidrosis, associated with a pungent odor, is invariably present. Formation of vesicles is rare, whereas keratolysis that causes the formation of dry blisters is regularly seen. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family. ", "keywords": null }, { "identifier": "Keratoendothelitis fugax hereditaria.", "acronym": "KEFH.", "accession": "DI-05200", "synonyms": "Keratitis fugax hereditaria.; ", "cross_references": "MeSH; D007634.", "definition": "An autosomal dominant corneal disease that periodically, and fleetingly, affects the corneal endothelium, stroma, and vision, eventually leading to central corneal stromal opacities in some patients. The disease is characterized by unilateral attacks of ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1-2 days but vision remains blurry for several weeks. The attacks start at the age of 3-12 years and can affect either eye. They generally decrease in frequency and get milder with age. ", "keywords": null }, { "identifier": "Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal.", "acronym": "PKKSCC.", "accession": "DI-00899", "synonyms": "Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal.; ", "cross_references": "MeSH; D007645.", "definition": "A recessive syndrome characterized by XX (female to male) SRY- independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma, palmoplantar, with deafness.", "acronym": "PPKDFN.", "accession": "DI-00898", "synonyms": null, "cross_references": "MeSH; D007645.", "definition": "An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness. ", "keywords": "KW-0209:Deafness.; KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma, palmoplantar, striate 3.", "acronym": "SPPK3.", "accession": "DI-00897", "synonyms": "Keratosis palmoplantaris striata III.; PPKS3.; Striate palmoplantar keratoderma III.; ", "cross_references": "MeSH; D007645.", "definition": "A dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma, palmoplantar, striate 2.", "acronym": "SPPK2.", "accession": "DI-00896", "synonyms": "Keratoderma palmoplantar striate form II.; Keratosis palmoplantaris striata II.; KPPS2.; PPKS2.; Striate palmoplantar keratoderma II.; ", "cross_references": "MeSH; D007645.", "definition": "A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma, palmoplantar, punctate 1A.", "acronym": "PPKP1A.", "accession": "DI-03540", "synonyms": "Keratodermia palmoplantaris papulosa Buschke-Fischer-Brauer type.; Keratosis palmoplantaris papulosa.; Keratosis punctate palmoplantaris Buschke-Fisher-Brauer type.; KPPP1.; PPKP1.; Punctate palmoplantar keratoderma type I.; Punctate palmoplantar keratoderma type IA.; ", "cross_references": "MeSH; D007645.", "definition": "An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma, palmoplantar, non-epidermolytic, focal 1.", "acronym": "FNEPPK1.", "accession": "DI-02590", "synonyms": "Focal nonepidermolytic palmoplantar keratoderma.; Keratoderma, focal nonepidermolytic palmoplantar.; PPKFNE.; ", "cross_references": "MeSH; D007645.", "definition": "A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma, palmoplantar, non-epidermolytic.", "acronym": "NEPPK.", "accession": "DI-00894", "synonyms": "Nonepidermolytic palmoplantar keratoderma.; Nonepidermolytic Unna-Thost disease.; Non-epidermolytic Unna-Thost disease.; Tylosis.; ", "cross_references": "MeSH; D007645.", "definition": "A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma, palmoplantar, Nagashima type.", "acronym": "PPKN.", "accession": "DI-04005", "synonyms": null, "cross_references": "MeSH; D007645.", "definition": "An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma, palmoplantar, Bothnian type.", "acronym": "PPKB.", "accession": "DI-03900", "synonyms": null, "cross_references": "MeSH; D053546.", "definition": "A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections. ", "keywords": "KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoderma-ichthyosis-deafness syndrome, autosomal recessive.", "acronym": "KDIDAR.", "accession": "DI-06486", "synonyms": "ARKID syndrome.; ", "cross_references": "MeSH; D007645.", "definition": "An autosomal recessive disorder characterized by severe palmoplantar keratoderma, generalized ichthyosis, and sensorineural bilateral hearing loss. Additional variable features include contractures, mild bleeding diathesis, and psychomotor retardation. ", "keywords": "KW-0209:Deafness.; KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Keratoconus 9.", "acronym": "KTCN9.", "accession": "DI-05225", "synonyms": null, "cross_references": "MeSH; D007640.", "definition": "An autosomal dominant form of keratoconus, a common degenerative corneal disease characterized by progressive, non-inflammatory thinning of the corneal stroma, corneal ectasia, and cone-shaped corneal protrusion that results in reduced vision. ", "keywords": null } ] }