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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1900&ordering=-synonyms",
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"results": [
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 3.",
"acronym": "DKCB3.",
"accession": "DI-03168",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Ichthyosis hystrix, Curth-Macklin type.",
"acronym": "IHCM.",
"accession": "DI-00585",
"synonyms": null,
"cross_references": "MeSH; D007057.",
"definition": "A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. ",
"keywords": "KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Cerebral cavernous malformations 4.",
"acronym": "CCM4.",
"accession": "DI-06256",
"synonyms": null,
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM4 cases occur sporadically. ",
"keywords": null
},
{
"identifier": "Ichthyosis with erythrokeratoderma.",
"acronym": "IEKD.",
"accession": "DI-06761",
"synonyms": null,
"cross_references": "MeSH; D007057.",
"definition": "An autosomal dominant genodermatosis characterized by early-onset ichthyosiform erythroderma with excessive skin scaling and peeling, and erythematous hyperkeratotic plaques. Lesions are present at birth or appear soon after. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Diarrhea 10, protein-losing enteropathy type.",
"acronym": "DIAR10.",
"accession": "DI-05384",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. ",
"keywords": null
},
{
"identifier": "Diamond-Blackfan anemia-like.",
"acronym": "DBAL.",
"accession": "DI-05222",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "An autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin. ",
"keywords": null
},
{
"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.; "
},
{
"identifier": "Hypogonadotropic hypogonadism 14 with or without anosmia.",
"acronym": "HH14.",
"accession": "DI-03574",
"synonyms": null,
"cross_references": "MeSH; D007006.",
"definition": "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ",
"keywords": "KW-0956:Kallmann syndrome.; KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 43.",
"acronym": "MRD43.",
"accession": "DI-04747",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Frontonasal dysplasia 3.",
"acronym": "FND3.",
"accession": "DI-02710",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. ",
"keywords": null
},
{
"identifier": "Autism 19.",
"acronym": "AUTS19.",
"accession": "DI-03649",
"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": "Diamond-Blackfan anemia 16.",
"acronym": "DBA16.",
"accession": "DI-04958",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 14.",
"acronym": "ARCI14.",
"accession": "DI-05040",
"synonyms": null,
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Hypomyelination with brainstem and spinal cord involvement and leg spasticity.",
"acronym": "HBSL.",
"accession": "DI-03775",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild intellectual disability. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord. ",
"keywords": null
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 2.",
"acronym": "CPSQ2.",
"accession": "DI-02559",
"synonyms": null,
"cross_references": "MeSH; D002547.",
"definition": "A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of intellectual disability. Neuroimaging shows brain atrophy and ventriculomegaly. ",
"keywords": null
},
{
"identifier": "Autism 20.",
"acronym": "AUTS20.",
"accession": "DI-05821",
"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. The transmission pattern of AUTS20 is consistent with autosomal dominant inheritance. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 3.",
"acronym": "CPSQ3.",
"accession": "DI-04750",
"synonyms": null,
"cross_references": "MeSH; D002547.",
"definition": "A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment. ",
"keywords": null
},
{
"identifier": "Developmental and epileptic encephalopathy 89.",
"acronym": "DEE89.",
"accession": "DI-05990",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Glycine encephalopathy with normal serum glycine.",
"acronym": "GCENSG.",
"accession": "DI-04929",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. ",
"keywords": null
},
{
"identifier": "Microtia, hearing impairment, and cleft palate.",
"acronym": "MHICP.",
"accession": "DI-01978",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. ",
"keywords": null
}
]
}