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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3680&ordering=synonyms",
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"results": [
{
"identifier": "Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism.",
"acronym": "CDIDHH.",
"accession": "DI-06352",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by delayed motor development, ataxia with cerebellar hypoplasia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed puberty with congenital hypogonadotropic hypogonadism. ",
"keywords": "KW-0991:Intellectual disability.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Auriculocondylar syndrome 2A.",
"acronym": "ARCND2A.",
"accession": "DI-03468",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"keywords": null
},
{
"identifier": "Amelogenesis imperfecta, hypomaturation type, 2A5.",
"acronym": "AI2A5.",
"accession": "DI-04153",
"synonyms": null,
"cross_references": "MeSH; D000567.",
"definition": "A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "High bone mass trait.",
"acronym": "HBM.",
"accession": "DI-01741",
"synonyms": null,
"cross_references": "MedGen; C1866080.",
"definition": "Rare phenotype characterized by exceptionally dense bones. HBM individuals show otherwise a completely normal skeletal structure and no other unusual clinical findings. ",
"keywords": null
},
{
"identifier": "Cerebellar atrophy, visual impairment, and psychomotor retardation.",
"acronym": "CAVIPMR.",
"accession": "DI-04673",
"synonyms": null,
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Cerebellar atrophy, developmental delay, and seizures.",
"acronym": "CADEDS.",
"accession": "DI-05076",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cerebellar atrophy with seizures and variable developmental delay.",
"acronym": "CASVDD.",
"accession": "DI-05616",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Immunodeficiency 40.",
"acronym": "IMD40.",
"accession": "DI-04461",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.",
"acronym": "CANVAS.",
"accession": "DI-05548",
"synonyms": null,
"cross_references": "MeSH; D009461.",
"definition": "An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length- dependent sensory deficit. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4.",
"acronym": "CAMRQ4.",
"accession": "DI-03773",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3.",
"acronym": "CAMRQ3.",
"accession": "DI-02743",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Auditory neuropathy, autosomal dominant 3.",
"acronym": "AUNA3.",
"accession": "DI-06395",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA3 is a late- onset, progressive form. ",
"keywords": "KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Auditory neuropathy, autosomal dominant 2.",
"acronym": "AUNA2.",
"accession": "DI-06691",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA2 is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. The outer hair cell function is preserved initially but declines with age. ",
"keywords": "KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Leukodystrophy, childhood-onset, remitting.",
"acronym": "CORLK.",
"accession": "DI-06414",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal dominant disorder characterized by loss of developmental abilities, demyelination and leukodystrophy on brain imaging, triggered by fever or infection in the first year of life. Abnormalities almost completely resolve over a period of 1 to 2 years, and affected children regain normal development accompanied by remyelination. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukodystrophy and acquired microcephaly with or without dystonia.",
"acronym": "LDAMD.",
"accession": "DI-04639",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive neurologic disorder characterized by profound intellectual disability, dystonia, postnatal microcephaly, and white matter abnormalities consistent with leukodystrophy. ",
"keywords": "KW-0991:Intellectual disability.; KW-1026:Leukodystrophy.; "
},
{
"identifier": "Leukocyte adhesion deficiency 1.",
"acronym": "LAD1.",
"accession": "DI-01897",
"synonyms": null,
"cross_references": "MedGen; C1861766.",
"definition": "LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions. ",
"keywords": null
},
{
"identifier": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2.",
"acronym": "CAMRQ2.",
"accession": "DI-03450",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Leukemia, acute lymphoblastic, 3.",
"acronym": "ALL3.",
"accession": "DI-03959",
"synonyms": null,
"cross_references": "MeSH; D054198.",
"definition": "A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 9.",
"acronym": "LCCS9.",
"accession": "DI-04504",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 8.",
"acronym": "LCCS8.",
"accession": "DI-04380",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS8 is an axoglial form of arthrogryposis multiplex congenita, characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. ",
"keywords": null
}
]
}