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"count": 6723,
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"results": [
{
"identifier": "Atrioventricular septal defect 2.",
"acronym": "AVSD2.",
"accession": "DI-01195",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 4.",
"acronym": "AVSD4.",
"accession": "DI-03332",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 5.",
"acronym": "AVSD5.",
"accession": "DI-03369",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Attention deficit-hyperactivity disorder 7.",
"acronym": "ADHD7.",
"accession": "DI-02574",
"synonyms": null,
"cross_references": "MeSH; D001289.",
"definition": "A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. ",
"keywords": null
},
{
"identifier": "Attention deficit-hyperactivity disorder 8.",
"acronym": "ADHD8.",
"accession": "DI-06470",
"synonyms": null,
"cross_references": "MeSH; D001289.",
"definition": "A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism. ",
"keywords": null
},
{
"identifier": "Auditory neuropathy and optic atrophy.",
"acronym": "ANOA.",
"accession": "DI-05116",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; "
},
{
"identifier": "Auditory neuropathy, autosomal dominant 1.",
"acronym": "AUNA1.",
"accession": "DI-03423",
"synonyms": "Nonsyndromic auditory neuropathy autosomal dominant.; NSDAN.; ",
"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. ",
"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": "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 recessive, 1.",
"acronym": "AUNB1.",
"accession": "DI-02064",
"synonyms": "Nonsyndromic auditory neuropathy autosomal recessive.; NSRAN.; ",
"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. In some cases AUNB1 phenotype can be temperature sensitive. ",
"keywords": "KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Au-Kline syndrome.",
"acronym": "AUKS.",
"accession": "DI-04555",
"synonyms": "Au-Kline-Okamoto syndrome.; Hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation.; Okamoto syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A disorder characterized by intellectual disability, facial dysmorphism, cardiac defects, and connective tissue and skeletal abnormalities. Dysmorphic features include long palpebral fissures, ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open downturned mouth, ears with underdeveloped and thick helices, high palate, and a unique tongue with a prominent median crease. Hypotonia, hyporeflexia, and high pain tolerance are additional features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Aural atresia, congenital.",
"acronym": "CAA.",
"accession": "DI-03316",
"synonyms": "Aural atresia, congenital, with hyposmia.; ",
"cross_references": "MeSH; D006314.",
"definition": "A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity. ",
"keywords": null
},
{
"identifier": "Auriculocondylar syndrome 1.",
"acronym": "ARCND1.",
"accession": "DI-03467",
"synonyms": "ACS.; Dysgnathia complex.; Question mark ears syndrome.; ",
"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": "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": "Auriculocondylar syndrome 2B.",
"acronym": "ARCND2B.",
"accession": "DI-06730",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal recessive 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": "Auriculocondylar syndrome 3.",
"acronym": "ARCND3.",
"accession": "DI-04052",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal recessive 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": "Auriculocondylar syndrome 4.",
"acronym": "ARCND4.",
"accession": "DI-06729",
"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": "Autism 15.",
"acronym": "AUTS15.",
"accession": "DI-02792",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism 16.",
"acronym": "AUTS16.",
"accession": "DI-02793",
"synonyms": "Autism with or without seizures.; ",
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTS16 can be associated with epilepsy. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism 17.",
"acronym": "AUTS17.",
"accession": "DI-02794",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
}
]
}