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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4360&ordering=-synonyms",
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"results": [
{
"identifier": "Immunodeficiency 98 with autoinflammation, X-linked.",
"acronym": "IMD98.",
"accession": "DI-06381",
"synonyms": "Inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8.; INFLTR8.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked disorder characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Features include mouth ulcers, fever, poor early growth, hepatosplenomegaly, lymphadenopathy, polyarthritis, and non- infectious enteritis. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 5.",
"acronym": "SPGF5.",
"accession": "DI-01927",
"synonyms": "Infertility associated with multi-tailed spermatozoa and excessive DNA.; Male infertility with large-headed multiflagellar polyploid spermatozoa.; ",
"cross_references": "MeSH; D007248.",
"definition": "An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome. ",
"keywords": null
},
{
"identifier": "Hyaline fibromatosis syndrome.",
"acronym": "HFS.",
"accession": "DI-01850",
"synonyms": "Infantile systemic hyalinosis.; ISH.; JHF.; Juvenile hyaline fibromatosis.; Systemic hyalinosis.; ",
"cross_references": "MeSH; D057770.",
"definition": "An autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits. ",
"keywords": null
},
{
"identifier": "Kawasaki disease.",
"acronym": "KWD.",
"accession": "DI-02892",
"synonyms": "Infantile polyarteritis.; Mucocutaneous lymph node syndrome.; ",
"cross_references": "MeSH; D009080.",
"definition": "An acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy. ",
"keywords": null
},
{
"identifier": "Nephronophthisis 2.",
"acronym": "NPHP2.",
"accession": "DI-00804",
"synonyms": "Infantile nephronophthisis.; ",
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Spinal muscular atrophy 1.",
"acronym": "SMA1.",
"accession": "DI-01055",
"synonyms": "Infantile muscular atrophy.; Proximal hereditary motor neuropathy type I.; SMA I.; SMA infantile acute form.; Spinal muscular atrophy type I.; Werdnig-Hoffman disease.; ",
"cross_references": "MeSH; D014897.",
"definition": "A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Osteopetrosis, autosomal recessive 5.",
"acronym": "OPTB5.",
"accession": "DI-00889",
"synonyms": "Infantile malignant osteopetrosis 3.; ",
"cross_references": "MeSH; D010022.",
"definition": "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal recessive 4.",
"acronym": "OPTB4.",
"accession": "DI-00888",
"synonyms": "Infantile malignant osteopetrosis 2.; ",
"cross_references": "MeSH; D010022.",
"definition": "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Behr syndrome.",
"acronym": "BEHRS.",
"accession": "DI-04690",
"synonyms": "Infantile hereditary optic atrophy with neurologic abnormalities.; Optic atrophy, infantile hereditary, with neurologic abnormalities.; ",
"cross_references": "MeSH; D013035.",
"definition": "An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, intellectual disability, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 11.",
"acronym": "COXPD11.",
"accession": "DI-03566",
"synonyms": "Infantile encephaloneuromyopathy due to mitochondrial translation defect.; ",
"cross_references": "MeSH; D017237.",
"definition": "A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Caffey disease.",
"acronym": "CAFYD.",
"accession": "DI-01310",
"synonyms": "Infantile cortical hyperostosis.; ",
"cross_references": "MeSH; D006958.",
"definition": "An autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age. ",
"keywords": null
},
{
"identifier": "PEHO syndrome.",
"acronym": "PEHO.",
"accession": "DI-04784",
"synonyms": "Infantile cerebellooptic atrophy.; Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy.; ",
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe intellectual disability, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1.",
"acronym": "IBMPFD1.",
"accession": "DI-01817",
"synonyms": "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.; Limb-girdle muscular dystrophy with Paget disease of bone.; Lower motor neuron degeneration with Paget-like bone disease.; Pagetoid amyotrophic lateral sclerosis.; Pagetoid neuroskeletal syndrome.; ",
"cross_references": "MeSH; D057180.",
"definition": "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Neurodegeneration with brain iron accumulation 2A.",
"acronym": "NBIA2A.",
"accession": "DI-01819",
"synonyms": "INAD.; INAD1.; Infantile neuroaxonal dystrophy.; Infantile neuroaxonal dystrophy 1.; Neurodegeneration PLA2G6-associated.; PLAN.; Seitelberger disease.; ",
"cross_references": "MeSH; D019150.",
"definition": "A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Cryptorchidism.",
"acronym": "CRYPTO.",
"accession": "DI-01455",
"synonyms": "Impaired testicular descent.; ",
"cross_references": "MedGen; C0010417.",
"definition": "One of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer. ",
"keywords": null
},
{
"identifier": "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1.",
"acronym": "IMNEPD1.",
"accession": "DI-04353",
"synonyms": "IMNEPD.; ",
"cross_references": "MeSH; D000015.",
"definition": "A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency. ",
"keywords": null
},
{
"identifier": "Schimke immuno-osseous dysplasia.",
"acronym": "SIOD.",
"accession": "DI-02282",
"synonyms": "Immunoosseous dysplasia, Schimke type.; Schimke immunoosseous dysplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Krakow type.",
"acronym": "SEMDK.",
"accession": "DI-05362",
"synonyms": "Immunoosseous dysplasia, Krakow type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive skeletal disorder characterized by severe spondyloepimetaphyseal dysplasia, rhizomelia, mesomelia with significant anterior bowing of all limbs, severe immunodeficiency, and developmental delay. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Vici syndrome.",
"acronym": "VICIS.",
"accession": "DI-03646",
"synonyms": "Immunodeficiency with cleft lip/palate cataract hypopigmentation and absent corpus callosum.; ",
"cross_references": "MeSH; D061085.",
"definition": "A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Immunodeficiency 23.",
"acronym": "IMD23.",
"accession": "DI-04117",
"synonyms": "Immunodeficiency-vasculitis-myoclonus syndrome.; Immunodeficiency with hyper IgE and cognitive impairment.; IVMS.; ",
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. ",
"keywords": null
}
]
}