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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2760&ordering=-synonyms",
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{
"identifier": "Intellectual developmental disorder, X-linked 95.",
"acronym": "MRX95.",
"accession": "DI-00740",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hirschsprung disease 3.",
"acronym": "HSCR3.",
"accession": "DI-01745",
"synonyms": null,
"cross_references": "MeSH; D006627.",
"definition": "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Hirschsprung disease 4.",
"acronym": "HSCR4.",
"accession": "DI-02982",
"synonyms": null,
"cross_references": "MeSH; D006627.",
"definition": "A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Hirschsprung disease, cardiac defects, and autonomic dysfunction.",
"acronym": "HCAD.",
"accession": "DI-01748",
"synonyms": null,
"cross_references": "MeSH; D006627.",
"definition": "A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. ",
"keywords": "KW-0367:Hirschsprung disease.; "
},
{
"identifier": "Histidinemia.",
"acronym": "HISTID.",
"accession": "DI-01750",
"synonyms": null,
"cross_references": "MedGen; C0220992.",
"definition": "Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. ",
"keywords": null
},
{
"identifier": "IFAP syndrome 2.",
"acronym": "IFAP2.",
"accession": "DI-05917",
"synonyms": null,
"cross_references": "MeSH; D020795.",
"definition": "An autosomal dominant form of IFAP syndrome, a disease characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. IFAP2 patients manifest ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, sparse to no body hair, and photophobia with punctate corneal epithelial defects, corneal pannus, and complicated cataract. Ultrastructural hair analysis shows trichorrhexis nodosa. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Leber congenital amaurosis with early-onset deafness.",
"acronym": "LCAEOD.",
"accession": "DI-05197",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients. ",
"keywords": "KW-0209:Deafness.; KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Muscle hypertrophy.",
"acronym": "MSLHP.",
"accession": "DI-03210",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong. ",
"keywords": null
},
{
"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": "Hydrocephalus, congenital, 5.",
"acronym": "HYC5.",
"accession": "DI-06606",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "A form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYC5 is an autosomal dominant form with incomplete penetrance and variable expressivity, associated with aqueductal stenosis apparent from birth. Some patients may have neurodevelopmental delay, seizures, or structural brain abnormalities. ",
"keywords": null
},
{
"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": "Lethal congenital contracture syndrome 7.",
"acronym": "LCCS7.",
"accession": "DI-04378",
"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. LCCS7 is a severe axoglial disease characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and motor paralysis leading to death early in the neonatal period. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies.",
"acronym": "IDNADFS.",
"accession": "DI-05672",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by delayed development, speech delay with nasal speech, and characteristic facial features including upslanted palpebral fissures, anteverted nares, a thin upper lip, and micrognathia. Some patients may have skeletal anomalies, such as brachydactyly, toe syndactyly and flat feet. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with ocular anomalies and distinctive facial features.",
"acronym": "IDDOF.",
"accession": "DI-06532",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, mild intellectual disability, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features including long, upslanting palpebral fissures, bitemporal narrowing of the forehead, arched eyebrows, and epicanthal folds. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Lung disease, immunodeficiency, and chromosome breakage syndrome.",
"acronym": "LICS.",
"accession": "DI-04908",
"synonyms": null,
"cross_references": "MeSH; D008171.",
"definition": "An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features. ",
"keywords": null
},
{
"identifier": "Opsismodysplasia.",
"acronym": "OPSMD.",
"accession": "DI-03691",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with very delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges. ",
"keywords": null
},
{
"identifier": "Multiple fibroadenomas of the breast.",
"acronym": "MFAB.",
"accession": "DI-03981",
"synonyms": null,
"cross_references": "MeSH; D018226.",
"definition": "A benign breast disease marked by lobuloalveolar growth with abnormally high proliferation of the epithelium, and characterized by the presence of more than 3 fibroadenomas in one breast. Fibroadenomas are adenomas containing fibrous tissue. ",
"keywords": null
},
{
"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": "Short QT syndrome 7.",
"acronym": "SQT7.",
"accession": "DI-06598",
"synonyms": null,
"cross_references": "MeSH; D001145.",
"definition": "An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. ",
"keywords": "KW-0940:Short QT syndrome.; "
}
]
}