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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2460&ordering=synonyms",
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"results": [
{
"identifier": "Interstitial nephritis, karyomegalic.",
"acronym": "KMIN.",
"accession": "DI-03532",
"synonyms": "Karyomegalic tubulointerstitial nephritis.; KTN.; ",
"cross_references": "MeSH; D009395.",
"definition": "A rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life. ",
"keywords": null
},
{
"identifier": "Arboleda-Tham syndrome.",
"acronym": "ARTHS.",
"accession": "DI-04351",
"synonyms": "KAT6A syndrome.; MRD32.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Kenny-Caffey syndrome 1.",
"acronym": "KCS1.",
"accession": "DI-01859",
"synonyms": "KCS.; Kenny-Caffey syndrome autosomal recessive.; ",
"cross_references": "MeSH; D006958.",
"definition": "An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Jawad syndrome.",
"acronym": "JWDS.",
"accession": "DI-03354",
"synonyms": "Kelly syndrome.; ",
"cross_references": "MeSH; D017880.",
"definition": "A syndrome characterized by congenital microcephaly, moderately severe intellectual disability, and symmetrical digital anomalies. Digital malformations of variable degree include hallux valgus, syndactyly of toes 4 and 5, short fifth fingers, single flexion crease of fifth fingers, polydactyly and synpolydactyly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "Palmoplantar keratoderma and congenital alopecia 1.",
"acronym": "PPKCA1.",
"accession": "DI-04540",
"synonyms": "Keratoderma-hypotrichosis-leukonychia totalis syndrome.; PPKCA, Stevanovic type.; ",
"cross_references": "MeSH; D007645.",
"definition": "A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; "
},
{
"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": "Palmoplantar keratoderma 1, striate, focal, or diffuse.",
"acronym": "PPKS1.",
"accession": "DI-00895",
"synonyms": "Keratoderma, palmoplantar, striate form I.; Keratosis palmoplantaris striata I.; KPPS1.; SPPK1.; Striate palmoplantar keratoderma I.; ",
"cross_references": "MeSH; D007645.",
"definition": "A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Huriez syndrome.",
"acronym": "HRZ.",
"accession": "DI-05520",
"synonyms": "Keratoderma with scleroatrophy of the extremities.; Scleroatrophic and keratotic dermatosis of limbs.; Sclerotylosis.; ",
"cross_references": "MeSH; D012878.",
"definition": "An autosomal dominant syndrome characterized by atrophic fibrosis of the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma. Malignant degeneration of affected skin resulting in aggressive squamous cell carcinoma and early metastasis formation is a distinctive feature of the syndrome. ",
"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": "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": "Tylosis with esophageal cancer.",
"acronym": "TOC.",
"accession": "DI-03431",
"synonyms": "Keratosis palmaris et plantaris with esophageal cancer.; Palmoplantar keratoderma with esophageal cancer.; ",
"cross_references": "MeSH; D015776.",
"definition": "An autosomal dominant syndrome characterized by focal non- epidermolytic palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of developing esophageal squamous cell carcinoma. ",
"keywords": "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": "Mal de Meleda.",
"acronym": "MDM.",
"accession": "DI-00698",
"synonyms": "Keratosis palmoplantaris transgradiens of Siemens.; Meleda disease.; ",
"cross_references": "MeSH; D007645.",
"definition": "A rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Tyrosinemia 2.",
"acronym": "TYRSN2.",
"accession": "DI-01108",
"synonyms": "Keratosis palmoplantaris with corneal dystrophy.; Oculocutaneous tyrosinemia.; Richner-Hanhart syndrome.; TAT deficiency.; Tyrosine aminotransferase deficiency.; Tyrosinemia Oregon type.; Tyrosinemia type II.; Tyrosine transaminase deficiency.; Tyrosinosis oculocutaneous type.; ",
"cross_references": "MeSH; D020176.",
"definition": "An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Papillon-Lefevre syndrome.",
"acronym": "PLS.",
"accession": "DI-00900",
"synonyms": "Keratosis palmoplantaris with periodontopathia.; PALS.; ",
"cross_references": "MeSH; D010214.",
"definition": "An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Succinyl-CoA:3-oxoacid CoA transferase deficiency.",
"acronym": "SCOTD.",
"accession": "DI-01863",
"synonyms": "Ketoacidosis due to SCOT deficiency.; SCOT deficiency.; Succinyl-CoA:3-ketoacid CoA-transferase deficiency.; Succinyl-CoA:3-ketoacid-CoA transferase deficiency.; Succinyl-CoA:acetoacetate transferase deficiency.; Succinyl-CoA-3-ketoacid-CoA transferase deficiency.; ",
"cross_references": "MeSH; D007662.",
"definition": "A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes. ",
"keywords": null
},
{
"identifier": "Keratitis-ichthyosis-deafness syndrome, autosomal dominant.",
"acronym": "KIDAD.",
"accession": "DI-00624",
"synonyms": "KID.; KID syndrome, autosomal dominant.; ",
"cross_references": "MeSH; D007634.",
"definition": "An autosomal dominant form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. ",
"keywords": "KW-0209:Deafness.; KW-0977:Ichthyosis.; "
},
{
"identifier": "King-Denborough syndrome.",
"acronym": "KDS.",
"accession": "DI-06230",
"synonyms": "King syndrome.; ",
"cross_references": "MeSH; D008305.",
"definition": "An autosomal dominant disorder characterized by the triad of dysmorphic features, congenital myopathy, and susceptibility to malignant hyperthermia. Variable expressivity has been reported in several cases. ",
"keywords": null
},
{
"identifier": "Menkes disease.",
"acronym": "MNK.",
"accession": "DI-00706",
"synonyms": "Kinky hair disease.; Menkes syndrome.; Steely hair disease.; ",
"cross_references": "MeSH; D007706.",
"definition": "An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}