Human Disease List
GET /api/human_diseases/?format=api&offset=3180&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3200&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3160&ordering=-identifier", "results": [ { "identifier": "Keratoconus 1.", "acronym": "KTCN1.", "accession": "DI-01861", "synonyms": null, "cross_references": "MedGen; C1835677.", "definition": "Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission. ", "keywords": null }, { "identifier": "Keratitis-ichthyosis-deafness syndrome, autosomal recessive.", "acronym": "KIDAR.", "accession": "DI-05746", "synonyms": "Desmons syndrome.; Ichthyosiform erythroderma, corneal involvement, and deafness.; KID syndrome, autosomal recessive.; ", "cross_references": "MeSH; D007634.", "definition": "An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients. ", "keywords": "KW-0209:Deafness.; KW-0977:Ichthyosis.; " }, { "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": "Keratitis hereditary.", "acronym": "KERH.", "accession": "DI-01213", "synonyms": "Autosomal dominant keratitis.; ", "cross_references": "MeSH; D007634.", "definition": "An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. ", "keywords": null }, { "identifier": "Keratinocytic non-epidermolytic nevus.", "acronym": "KNEN.", "accession": "DI-01860", "synonyms": "Pigmented moles.; ", "cross_references": "MedGen; C3665593.", "definition": "Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood. ", "keywords": null }, { "identifier": "Keppen-Lubinsky syndrome.", "acronym": "KPLBS.", "accession": "DI-04375", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance. ", "keywords": "KW-0991:Intellectual disability.; KW-1022:Congenital generalized lipodystrophy.; " }, { "identifier": "Kenny-Caffey syndrome 2.", "acronym": "KCS2.", "accession": "DI-03711", "synonyms": "Dwarfism with cortical thickening of tubular bones and transient hypocalcemia.; Kenny syndrome.; ", "cross_references": "MeSH; D006958.", "definition": "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": "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": "Keipert syndrome.", "acronym": "KPTS.", "accession": "DI-05580", "synonyms": "Nasodigitoacoustic syndrome.; ", "cross_references": "MeSH; D000015.", "definition": "An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness. ", "keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; " }, { "identifier": "KBG syndrome.", "acronym": "KBGS.", "accession": "DI-03268", "synonyms": null, "cross_references": "MeSH; D014071.", "definition": "A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability. ", "keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; " }, { "identifier": "Kaya-Barakat-Masson syndrome.", "acronym": "KABAMAS.", "accession": "DI-05991", "synonyms": null, "cross_references": "MeSH; D065886.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by impaired intellectual development, absent speech, hypotonia, profound developmental and motor delay with dystonia, poor coordination and spasticity, and visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Kawasaki disease.", "acronym": "KWD.", "accession": "DI-02892", "synonyms": "Infantile polyarteritis.; Mucocutaneous lymph node syndrome.; ", "cross_references": "MeSH; D009080.", "definition": "An acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy. ", "keywords": null }, { "identifier": "Kaufman oculocerebrofacial syndrome.", "acronym": "KOS.", "accession": "DI-04406", "synonyms": "Blepharophimosis-ptosis-intellectual disability syndrome.; BPIDS.; BPID syndrome.; ", "cross_references": "MeSH; D019066.", "definition": "A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Kartagener syndrome.", "acronym": "KTGS.", "accession": "DI-00623", "synonyms": "Dextrocardia-bronchiectasis-sinusitis syndrome.; Immotile cilia syndrome Kartagener type.; Primary ciliary dyskinesia Kartagener type.; Siewert syndrome.; ", "cross_references": "MeSH; D007619.", "definition": "An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). ", "keywords": "KW-1012:Kartagener syndrome.; " }, { "identifier": "Kanzaki disease.", "acronym": "KANZD.", "accession": "DI-01857", "synonyms": "NAGA deficiency type II.; Schindler disease type II.; ", "cross_references": "MedGen; C1836522.", "definition": "Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. ", "keywords": null }, { "identifier": "Kahrizi syndrome.", "acronym": "KHRZ.", "accession": "DI-03364", "synonyms": null, "cross_references": "MeSH; D019066.", "definition": "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, cataracts, coloboma, kyphosis, and coarse facial features. ", "keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; " }, { "identifier": "Kabuki syndrome 2.", "acronym": "KABUK2.", "accession": "DI-03337", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "A congenital intellectual disability syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Kabuki syndrome 1.", "acronym": "KABUK1.", "accession": "DI-02865", "synonyms": "Kabuki make-up syndrome.; Kabuki syndrome.; KMS.; Niikawa-Kuroki syndrome.; ", "cross_references": "MeSH; D000015.", "definition": "An autosomal dominant, congenital syndrome characterized by intellectual disability and additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Juvenile primary lateral sclerosis.", "acronym": "JPLS.", "accession": "DI-00616", "synonyms": null, "cross_references": "MeSH; D016472.", "definition": "A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected. ", "keywords": "KW-0523:Neurodegeneration.; " }, { "identifier": "Juvenile polyposis syndrome.", "acronym": "JPS.", "accession": "DI-01854", "synonyms": "JIP.; Juvenile intestinal polyposis.; ", "cross_references": "MedGen; C1868081.", "definition": "Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers. ", "keywords": null } ] }