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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2760",
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"results": [
{
"identifier": "Holoprosencephaly 12 with or without pancreatic agenesis.",
"acronym": "HPE12.",
"accession": "DI-05615",
"synonyms": null,
"cross_references": "MeSH; D016142.",
"definition": "An autosomal dominant form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 13, X-linked.",
"acronym": "HPE13.",
"accession": "DI-05801",
"synonyms": null,
"cross_references": "MeSH; D016142.",
"definition": "An X-linked form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 14.",
"acronym": "HPE14.",
"accession": "DI-06434",
"synonyms": null,
"cross_references": "MeSH; D016142.",
"definition": "An autosomal recessive form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. In its most severe form (alobar holoprosencephaly), the forebrain consists of a single ventricle, and midbrain structures may be malformed as well. In the most extreme cases, anophthalmia or cyclopia is evident along with a congenital absence of the mature nose. In milder forms (semilobar or lobar holoprosencephaly), rudimentary midline structures are present. The less severe form features facial dysmorphism characterized by ocular hypertelorism, defects of the upper lip and/or nose, and absence of the olfactory nerves or corpus callosum. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 2.",
"acronym": "HPE2.",
"accession": "DI-00566",
"synonyms": "Holoprosencephaly-2.; ",
"cross_references": "MeSH; D016142.",
"definition": "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 3.",
"acronym": "HPE3.",
"accession": "DI-00567",
"synonyms": "Holoprosencephaly-3.; ",
"cross_references": "MeSH; D016142.",
"definition": "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 4.",
"acronym": "HPE4.",
"accession": "DI-00568",
"synonyms": "Holoprosencephaly-4.; ",
"cross_references": "MeSH; D016142.",
"definition": "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 5.",
"acronym": "HPE5.",
"accession": "DI-00569",
"synonyms": "Holoprosencephaly-5.; ",
"cross_references": "MeSH; D016142.",
"definition": "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 7.",
"acronym": "HPE7.",
"accession": "DI-00570",
"synonyms": "Holoprosencephaly-7.; ",
"cross_references": "MeSH; D016142.",
"definition": "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holoprosencephaly 9.",
"acronym": "HPE9.",
"accession": "DI-00571",
"synonyms": "Holoprosencephaly-9.; Pituitary anomalies with holoprosencephaly-like features.; ",
"cross_references": "MeSH; D016142.",
"definition": "A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. ",
"keywords": "KW-0370:Holoprosencephaly.; "
},
{
"identifier": "Holt-Oram syndrome.",
"acronym": "HOS.",
"accession": "DI-01752",
"synonyms": null,
"cross_references": "MedGen; C0265264.",
"definition": "Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. ",
"keywords": null
},
{
"identifier": "Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity.",
"acronym": "MTHFRD.",
"accession": "DI-01972",
"synonyms": "Homocystinuria due to MTHFR deficiency.; Methylenetetrahydrofolate reductase deficiency.; MTHFR deficiency.; ",
"cross_references": "MeSH; D006712.",
"definition": "An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. ",
"keywords": null
},
{
"identifier": "Homocystinuria-megaloblastic anemia, cblE complementation type.",
"acronym": "HMAE.",
"accession": "DI-01970",
"synonyms": "Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type.; Methylcobalamin deficiency cblE type.; Vitamin B12-responsive homocystinuria cblE type.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. ",
"keywords": null
},
{
"identifier": "Homocystinuria-megaloblastic anemia, cblG complementation type.",
"acronym": "HMAG.",
"accession": "DI-01971",
"synonyms": "Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type.; Methionine synthase deficiency.; Methylcobalamin deficiency cblG type.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. ",
"keywords": null
},
{
"identifier": "Houge-Janssens syndrome 1.",
"acronym": "HJS1.",
"accession": "DI-04419",
"synonyms": "Intellectual developmental disorder, autosomal dominant 35.; MRD35.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Additional more variable features may include macrocephaly and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Houge-Janssens syndrome 2.",
"acronym": "HJS2.",
"accession": "DI-04420",
"synonyms": "Intellectual developmental disorder, autosomal dominant 36.; MRD36.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Some patients may develop seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Houge-Janssens syndrome 3.",
"acronym": "HJS3.",
"accession": "DI-05507",
"synonyms": "NEDLBA.; Neurodevelopmental disorder and language delay with or without structural brain abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with onset in infancy and additional variable features including hypotonia, epilepsy, brain abnormalities such as ventriculomegaly and a small corpus callosum, and autism spectrum disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hoxha-Aliu syndrome.",
"acronym": "HXAL.",
"accession": "DI-06816",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by mild intellectual disability, eyelid ptosis, and limb anomalies including brachydactyly, clinodactyly, dysplastic or absent nails, brachytelephalangy, short metacarpals, and toe syndactyly. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hoyeraal-Hreidarsson syndrome.",
"acronym": "HHS.",
"accession": "DI-00572",
"synonyms": "Cerebellar hypoplasia with pancytopenia.; Prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia.; ",
"cross_references": "MeSH; D019871.",
"definition": "A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "HSD10 mitochondrial disease.",
"acronym": "HSD10MD.",
"accession": "DI-00001",
"synonyms": "17-beta-hydroxysteroid dehydrogenase X deficiency.; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.; 3-hydroxyacyl-CoA dehydrogenase II deficiency.; 3-hydroxyacyl-CoA dehydrogenase type 2 deficiency.; 3-hydroxyacyl-CoA dehydrogenase type-2 deficiency.; 3-hydroxyacyl-CoA dehydrogenase type II deficiency.; CAMR.; HSD17B10 deficiency.; MHBD deficiency.; MRXS10.; ",
"cross_references": "MeSH; D020739.",
"definition": "An X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Humerofemoral hypoplasia with radiotibial ray deficiency.",
"acronym": "HHRRD.",
"accession": "DI-05281",
"synonyms": "HFHRTRD.; ",
"cross_references": "MeSH; D004480.",
"definition": "A severe disease characterized by reduction of all four limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present. HHRRD transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
}
]
}