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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3000&ordering=-synonyms",
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"results": [
{
"identifier": "Hypotonia-cystinuria syndrome.",
"acronym": "HCS.",
"accession": "DI-01801",
"synonyms": null,
"cross_references": "MedGen; C1848030.",
"definition": "Characterized generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. ",
"keywords": null
},
{
"identifier": "Cornelia de Lange syndrome 3 with or without midline brain defects.",
"acronym": "CDLS3.",
"accession": "DI-01432",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypotrichosis 11.",
"acronym": "HYPT11.",
"accession": "DI-03644",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 12.",
"acronym": "HYPT12.",
"accession": "DI-04148",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent. HYPT12 inheritance is autosomal dominant. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Cornelia de Lange syndrome 5.",
"acronym": "CDLS5.",
"accession": "DI-03541",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypotrichosis 14.",
"acronym": "HYPT14.",
"accession": "DI-05448",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 15.",
"acronym": "HYPT15.",
"accession": "DI-06567",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT15 is an autosomal recessive form characterized by sparse to absent scalp and body hair. Eyebrows and eyelashes may be sparse or absent as well. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Cornelia de Lange syndrome 6.",
"acronym": "CDLS6.",
"accession": "DI-06806",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. CDLS6 inheritance is autosomal dominant. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies.",
"acronym": "NEDLBF.",
"accession": "DI-06736",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures, and distal skeletal defects of the hands and feet. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.",
"acronym": "NDHMSR.",
"accession": "DI-05175",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by severe intellectual disability and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Candidiasis, familial, 9.",
"acronym": "CANDF9.",
"accession": "DI-04473",
"synonyms": null,
"cross_references": "MeSH; D002178.",
"definition": "A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Arthrogryposis multiplex congenita 5.",
"acronym": "AMC5.",
"accession": "DI-05874",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor. ",
"keywords": null
},
{
"identifier": "Coronary artery disease, autosomal dominant, 2.",
"acronym": "ADCAD2.",
"accession": "DI-01203",
"synonyms": null,
"cross_references": "MeSH; D003324.",
"definition": "A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction. ",
"keywords": null
},
{
"identifier": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations.",
"acronym": "MCCCHCM.",
"accession": "DI-05456",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder with onset in infancy. MCCCHCM is characterized by global developmental delay, impaired intellectual development, poor or absent speech, unsteady gait, ataxia, inability to walk, and variable brain abnormalities. Seizures and autistic features are observed in some patients. Brain imaging findings include an enlarged corpus callosum in the absence of megalencephaly, cerebellar hypoplasia, ventricular dilation, gyral abnormalities, and cortical malformations. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypotrichosis and recurrent skin vesicles.",
"acronym": "HRSV.",
"accession": "DI-02555",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Capillary malformation-arteriovenous malformation 1.",
"acronym": "CMAVM1.",
"accession": "DI-01315",
"synonyms": null,
"cross_references": "MeSH; D054079.",
"definition": "A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hypotrichosis-lymphedema-telangiectasia syndrome.",
"acronym": "HLTS.",
"accession": "DI-01804",
"synonyms": null,
"cross_references": "MeSH; D013684.",
"definition": "A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Coronary heart disease 6.",
"acronym": "CHDS6.",
"accession": "DI-03346",
"synonyms": null,
"cross_references": "MeSH; D003324.",
"definition": "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ",
"keywords": null
},
{
"identifier": "Coronary heart disease 7.",
"acronym": "CHDS7.",
"accession": "DI-02841",
"synonyms": null,
"cross_references": "MeSH; D003327.",
"definition": "A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. ",
"keywords": null
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, 13.",
"acronym": "SCAR13.",
"accession": "DI-03542",
"synonyms": null,
"cross_references": "MeSH; D013132.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound intellectual disability with poor or absent speech as well as gait and stance ataxia and hyperreflexia. ",
"keywords": "KW-0523:Neurodegeneration.; "
}
]
}