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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5540&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5500&ordering=-synonyms",
"results": [
{
"identifier": "Thanatophoric dysplasia 2.",
"acronym": "TD2.",
"accession": "DI-03093",
"synonyms": "Cloverleaf skull with thanatophoric dwarfism.; Thanatophoric dysplasia type II.; Thanatophoric dysplasia with kleeblattschaedel.; Thanatophoric dysplasia with straight femurs and cloverleaf skull.; ",
"cross_references": "MeSH; D013796.",
"definition": "A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Ectodermal dysplasia 2, Clouston type.",
"acronym": "ECTD2.",
"accession": "DI-00431",
"synonyms": "Clouston syndrome.; Ectodermal dysplasia 2 hidrotic.; Ectodermal dysplasia hidrotic autosomal dominant.; ED2.; HED2.; ",
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions.",
"acronym": "EPM3.",
"accession": "DI-00955",
"synonyms": "CLN14.; Neuronal ceroid lipofuscinosis 14.; Progressive myoclonic epilepsy 3.; ",
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM3 is an autosomal recessive, severe, form with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include intellectual disability, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; KW-0887:Epilepsy.; "
},
{
"identifier": "Microphthalmia, syndromic, 6.",
"acronym": "MCOPS6.",
"accession": "DI-00764",
"synonyms": "Clinical anophthalmia with micrognathia, malformed ears, digital anomalies and abnormal external genitalia.; Microphthalmia and pituitary anomalies.; Microphthalmia with brain and digit developmental anomalies.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Poikiloderma with neutropenia.",
"acronym": "PN.",
"accession": "DI-02620",
"synonyms": "Clericuzio-type poikiloderma neutropenia syndrome.; Poikiloderma with neutropenia Clericuzio-type.; ",
"cross_references": "MeSH; D012868.",
"definition": "A genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund- Thomson syndrome. ",
"keywords": null
},
{
"identifier": "Parietal foramina with cleidocranial dysplasia.",
"acronym": "PFMCCD.",
"accession": "DI-02132",
"synonyms": "Cleidocranial dysplasia with parietal foramina.; ",
"cross_references": "MedGen; C1868597.",
"definition": "Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles. ",
"keywords": null
},
{
"identifier": "Yunis-Varon syndrome.",
"acronym": "YVS.",
"accession": "DI-03789",
"synonyms": "Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia.; ",
"cross_references": "MeSH; D017880.",
"definition": "A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy. ",
"keywords": null
},
{
"identifier": "Orofacial cleft 8.",
"acronym": "OFC8.",
"accession": "DI-00829",
"synonyms": "Cleft lip with or without cleft palate, nonsyndromic, 8.; Non-syndromic cleft lip/palate 8.; Non-syndromic cleft lip with or without cleft palate 8.; ",
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ",
"keywords": null
},
{
"identifier": "Juberg-Hayward syndrome.",
"acronym": "JHS.",
"accession": "DI-06066",
"synonyms": "Cleft Lip/Palate with abnormal thumbs and microcephaly.; Cleft lip/palate with radial head and digital anomalies.; Orocraniodigital syndrome.; ",
"cross_references": "MeSH; D009958.",
"definition": "An autosomal recessive syndrome characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Popliteal pterygium syndrome.",
"acronym": "PPS.",
"accession": "DI-02181",
"synonyms": "Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies.; Faciogenitopopliteal syndrome.; ",
"cross_references": "MeSH; D011625.",
"definition": "An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus. ",
"keywords": null
},
{
"identifier": "Ectodermal dysplasia, Margarita Island type.",
"acronym": "EDMI.",
"accession": "DI-00426",
"synonyms": "Cleft lip/palate-ectodermal dysplasia syndrome.; CLPED1.; Ectodermal dysplasia Margarita type.; Ectodermal dysplasia type 4.; ED4.; Margarita Island ectodermal dysplasia.; Syndactyly-ectodermal dysplasia-cleft lip/palate.; Zlotogora-Ogur syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "CATIFA syndrome.",
"acronym": "CATIFA.",
"accession": "DI-05742",
"synonyms": "Cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention deficit-hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Van der Woude syndrome 1.",
"acronym": "VWS1.",
"accession": "DI-01123",
"synonyms": "Cleft lip and/or palate with mucous cysts of lower lip.; Lip-pit syndrome.; LPS.; PIT.; VDWS.; ",
"cross_references": "MeSH; D002972.",
"definition": "An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. ",
"keywords": null
},
{
"identifier": "Leukoencephalopathy with vanishing white matter 5.",
"acronym": "VWM5.",
"accession": "DI-06651",
"synonyms": "CLE.; Cree leukoencephalopathy.; Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure.; ",
"cross_references": "MeSH; D056784.",
"definition": "An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Autoinflammation with episodic fever and lymphadenopathy.",
"acronym": "AIEFL.",
"accession": "DI-05817",
"synonyms": "Cleavage-resistant RIPK1-induced autoinflammatory syndrome.; CRIA syndrome.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant immunologic disorder characterized by early onset of recurrent episodes of unexplained fever, lymphadenopathy, hepatosplenomegaly, and increased levels of inflammatory cytokines and chemokines in patient serum. ",
"keywords": null
},
{
"identifier": "Nail disorder, non-syndromic congenital, 1.",
"acronym": "NDNC1.",
"accession": "DI-03199",
"synonyms": "Claw-shaped nails.; Nail disorder, non-syndromic congenital, 10.; NDNC10.; Onychauxis hyponychia and onycholysis.; ",
"cross_references": "MeSH; D054039.",
"definition": "An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development. ",
"keywords": null
},
{
"identifier": "Lissencephaly 1.",
"acronym": "LIS1.",
"accession": "DI-00670",
"synonyms": "Classic lissencephaly.; Lissencephaly-1.; ",
"cross_references": "MeSH; D054082.",
"definition": "A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Hemophilia A.",
"acronym": "HEMA.",
"accession": "DI-01705",
"synonyms": "Classic hemophilia.; Factor 8 deficiency.; Factor VIII deficiency.; ",
"cross_references": "MeSH; D006467.",
"definition": "A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. ",
"keywords": "KW-0355:Hemophilia.; "
},
{
"identifier": "Bartter syndrome 3.",
"acronym": "BARTS3.",
"accession": "DI-00175",
"synonyms": "Classic Bartter syndrome.; ",
"cross_references": "MeSH; D001477.",
"definition": "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. ",
"keywords": "KW-0910:Bartter syndrome.; "
},
{
"identifier": "Niemann-Pick disease A.",
"acronym": "NPDA.",
"accession": "DI-02053",
"synonyms": "Classical Niemann-Pick disease.; Niemann-Pick disease acute neuronopathic form.; Niemann-Pick disease acute neurovisceral form.; Niemann-Pick disease classical infantile form.; Niemann-Pick disease intermediate protracted neurovisceral.; Niemann-Pick disease neuronopathic type.; Niemann-Pick disease type I.; NPA.; Sphingomyelinase deficiency.; Sphingomyelin lipidosis.; ",
"cross_references": "MeSH; D052536.",
"definition": "An early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, intellectual disability, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. ",
"keywords": "KW-1054:Niemann-Pick disease.; "
}
]
}