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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2720&ordering=-synonyms",
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"results": [
{
"identifier": "Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies.",
"acronym": "IDDHISD.",
"accession": "DI-06250",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, ophthalmologic abnormalities, and non-specific dysmorphic features. Some affected individuals have seizures, and a few have involvement of other organ systems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hereditary folate malabsorption.",
"acronym": "HFM.",
"accession": "DI-01712",
"synonyms": null,
"cross_references": "MedGen; C0342705.",
"definition": "Rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or intellectual disability become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent. ",
"keywords": null
},
{
"identifier": "Hereditary hypophosphatemic rickets with hypercalciuria.",
"acronym": "HHRH.",
"accession": "DI-01719",
"synonyms": null,
"cross_references": "MedGen; C0342645.",
"definition": "Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion. ",
"keywords": null
},
{
"identifier": "Congenital disorder of glycosylation 1E.",
"acronym": "CDG1E.",
"accession": "DI-00337",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Hereditary multiple exostoses 1.",
"acronym": "EXT1.",
"accession": "DI-01725",
"synonyms": null,
"cross_references": "MedGen; C0015306.",
"definition": "EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. ",
"keywords": null
},
{
"identifier": "Hereditary multiple exostoses 2.",
"acronym": "EXT2.",
"accession": "DI-01726",
"synonyms": null,
"cross_references": "MedGen; C1851413.",
"definition": "EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. ",
"keywords": null
},
{
"identifier": "Braddock-Carey syndrome 2.",
"acronym": "BRDCS2.",
"accession": "DI-06453",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disease characterized by microcephaly, congenital thrombocytopenia, and facial dysmorphisms including Pierre- Robin sequence. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 26.",
"acronym": "MRD26.",
"accession": "DI-04120",
"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. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. ",
"keywords": "KW-0991:Intellectual disability.; KW-1269:Autism.; "
},
{
"identifier": "Hereditary neutrophilia.",
"acronym": "NEUTROPHILIA.",
"accession": "DI-02545",
"synonyms": null,
"cross_references": "MeSH; D007964.",
"definition": "A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. ",
"keywords": null
},
{
"identifier": "Hereditary non-polyposis colorectal cancer 6.",
"acronym": "HNPCC6.",
"accession": "DI-00555",
"synonyms": null,
"cross_references": "MeSH; D003123.",
"definition": "An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ",
"keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; "
},
{
"identifier": "Hereditary non-polyposis colorectal cancer 7.",
"acronym": "HNPCC7.",
"accession": "DI-00556",
"synonyms": null,
"cross_references": "MeSH; D003123.",
"definition": "An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. ",
"keywords": "KW-0362:Hereditary nonpolyposis colorectal cancer.; "
},
{
"identifier": "Hereditary pyropoikilocytosis.",
"acronym": "HPP.",
"accession": "DI-01737",
"synonyms": null,
"cross_references": "MedGen; C0520739.",
"definition": "Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. ",
"keywords": null
},
{
"identifier": "Hereditary susceptibility to Wilms tumor 5.",
"acronym": "WT5.",
"accession": "DI-01738",
"synonyms": null,
"cross_references": "MedGen; C1832099.",
"definition": "Pediatric malignancy of kidney and one of the most common solid cancers in childhood. ",
"keywords": null
},
{
"identifier": "Aortic aneurysm, familial thoracic 12.",
"acronym": "AAT12.",
"accession": "DI-06389",
"synonyms": null,
"cross_references": "MeSH; D017545.",
"definition": "A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. AAT12 is an autosomal dominant disease manifesting with aortic dissection and progressive dilation of the aortic root, ascending aorta, and abdominal aorta. ",
"keywords": "KW-0993:Aortic aneurysm.; "
},
{
"identifier": "Hermansky-Pudlak syndrome 10.",
"acronym": "HPS10.",
"accession": "DI-04775",
"synonyms": null,
"cross_references": "MeSH; D022861.",
"definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing. ",
"keywords": "KW-0363:Hermansky-Pudlak syndrome.; "
},
{
"identifier": "Hermansky-Pudlak syndrome 11.",
"acronym": "HPS11.",
"accession": "DI-06004",
"synonyms": null,
"cross_references": "MeSH; D022861.",
"definition": "A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. ",
"keywords": "KW-0363:Hermansky-Pudlak syndrome.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 45.",
"acronym": "MRT45.",
"accession": "DI-04220",
"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. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 54.",
"acronym": "MRT54.",
"accession": "DI-04760",
"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. MRT54 patients manifest intellectual disability, delayed speech and hyperactivity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital heart defects, multiple types, 4.",
"acronym": "CHTD4.",
"accession": "DI-04085",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. ",
"keywords": null
},
{
"identifier": "Rothmund-Thomson syndrome 2.",
"acronym": "RTS2.",
"accession": "DI-02274",
"synonyms": null,
"cross_references": "MeSH; D011038.",
"definition": "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS2 is an autosomal recessive form frequently accompanied by an increased risk of osteosarcoma in childhood and skin cancer later in life. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
}
]
}