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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=160",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=120",
"results": [
{
"identifier": "Aicardi-Goutieres syndrome 1.",
"acronym": "AGS1.",
"accession": "DI-00066",
"synonyms": "Autosomal dominant Aicardi-Goutieres syndrome.; Cree encephalitis.; Encephalopathy familial infantile with intracranial calcification and chronic cerebrospinal fluid lymphocytosis.; Pseudo-TORCH syndrome.; Pseudotoxoplasmosis syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 2.",
"acronym": "AGS2.",
"accession": "DI-00067",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 3.",
"acronym": "AGS3.",
"accession": "DI-00068",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 4.",
"acronym": "AGS4.",
"accession": "DI-00069",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 5.",
"acronym": "AGS5.",
"accession": "DI-02499",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 6.",
"acronym": "AGS6.",
"accession": "DI-03668",
"synonyms": "Cree encephalitis.; Pseudo-TORCH syndrome.; ",
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 7.",
"acronym": "AGS7.",
"accession": "DI-04126",
"synonyms": null,
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 8.",
"acronym": "AGS8.",
"accession": "DI-06175",
"synonyms": null,
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. AGS8 inheritance is autosomal recessive. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "AICA-ribosuria due to ATIC deficiency.",
"acronym": "AICAR.",
"accession": "DI-00065",
"synonyms": "AICA-ribosiduria due to ATIC deficiency.; AICAR transformylase/IMP cyclohydrolase deficiency.; ATIC deficiency.; ",
"cross_references": "MeSH; D011686.",
"definition": "A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. Clinical features include profound intellectual disability, epilepsy, dysmorphic features and congenital blindness. AICAR inheritance is autosomal recessive. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Alacrima, achalasia, and impaired intellectual development syndrome.",
"acronym": "AAMR.",
"accession": "DI-03937",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Alagille syndrome 1.",
"acronym": "ALGS1.",
"accession": "DI-00071",
"synonyms": "Alagille syndrome.; Alagille-Watson syndrome.; ALGS.; AWS.; Cholestasis with peripheral pulmonary stenosis.; ",
"cross_references": "MeSH; D016738.",
"definition": "A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. ",
"keywords": null
},
{
"identifier": "Alagille syndrome 2.",
"acronym": "ALGS2.",
"accession": "DI-00072",
"synonyms": "Alagille-Watson syndrome.; ALGS.; AWS.; Cholestasis with peripheral pulmonary stenosis.; ",
"cross_references": "MeSH; D016738.",
"definition": "A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. ",
"keywords": null
},
{
"identifier": "Alazami syndrome.",
"acronym": "ALAZS.",
"accession": "DI-03653",
"synonyms": "Facial dysmorphism intellectual disability and primordial dwarfism.; ",
"cross_references": "MeSH; D008607.",
"definition": "A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Alazami-Yuan syndrome.",
"acronym": "ALYUS.",
"accession": "DI-04825",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Albinism ocular 1.",
"acronym": "OA1.",
"accession": "DI-02082",
"synonyms": "Nettleship-Falls type ocular albinism.; OA-1.; ",
"cross_references": "MeSH; D016117.",
"definition": "Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 1A.",
"acronym": "OCA1A.",
"accession": "DI-02088",
"synonyms": "Albinism I.; Albinism oculocutaneous IA.; ATN.; OCA-1A.; OCA-IA.; Oculocutaneous albinism tyrosinase negative.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 1B.",
"acronym": "OCA1B.",
"accession": "DI-02089",
"synonyms": "Albinism yellow mutant type.; OCA-IB.; OCA-ITS.; Oculocutaneous albinism type IB.; Oculocutaneous albinism type I temperature-sensitive.; Yellow albinism.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 2.",
"acronym": "OCA2.",
"accession": "DI-02085",
"synonyms": "Albinism II.; BOCA.; Brown oculocutaneous albinism.; OCA-2.; Oculocutaneous albinism type II.; Oculocutaneous albinism tyrosinase-positive.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 3.",
"acronym": "OCA3.",
"accession": "DI-02090",
"synonyms": "Albinism III.; OCA-III.; Oculocutaneous albinism type III.; ROCA.; Rufous oculocutaneous albinism.; Xanthism.; ",
"cross_references": "MeSH; D016115.",
"definition": "An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair. ",
"keywords": "KW-0015:Albinism.; "
},
{
"identifier": "Albinism, oculocutaneous, 4.",
"acronym": "OCA4.",
"accession": "DI-02086",
"synonyms": "Oculocutaneous albinism type IV.; ",
"cross_references": "MeSH; D016115.",
"definition": "A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. ",
"keywords": "KW-0015:Albinism.; "
}
]
}