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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1320&ordering=synonyms",
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"results": [
{
"identifier": "Erythrokeratodermia variabilis et progressiva 1.",
"acronym": "EKVP1.",
"accession": "DI-00483",
"synonyms": "Congenital familial erythrokeratodermia figurata in plaques.; EKV.; EKVP.; Erythrokeratodermia progressive symmetric.; Erythrokeratodermia variabilis.; Erythrokeratodermia variabilis et progressiva.; Erythrokeratodermia variabilis Mendes da Costa type.; Erythrokeratodermia variabilis with erythema gyratum repens.; Greither Disease.; Keratosis palmoplantaris transgrediens et progrediens.; PSEK.; Transgrediens et progrediens palmoplantar keratoderma.; ",
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Diarrhea 2, with microvillus atrophy, with or without cholestasis.",
"acronym": "DIAR2.",
"accession": "DI-01979",
"synonyms": "Congenital familial protracted diarrhea with enterocyte brush-border abnormalities.; Davidson disease.; Intractable diarrhea of infancy.; Microvillus atrophy congenital.; Microvillus inclusion disease 1.; MVID1.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 3A.",
"acronym": "CFEOM3A.",
"accession": "DI-02509",
"synonyms": "Congenital fibrosis of extraocular muscles 3A with or without extraocular involvement.; FEOM3.; TUBB3 syndrome.; ",
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 2.",
"acronym": "CFEOM2.",
"accession": "DI-00353",
"synonyms": "Congenital fibrosis of extraocular muscles autosomal recessive.; Exotropic strabismus fixus.; FEOM2.; ",
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 2.",
"acronym": "CHTD2.",
"accession": "DI-02853",
"synonyms": "Congenital heart defects non-syndromic 2.; ",
"cross_references": "MeSH; D006330.",
"definition": "A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 1.",
"acronym": "HHF1.",
"accession": "DI-01579",
"synonyms": "Congenital hyperinsulinism.; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia.; Hyperinsulinemic hypoglycemia of infancy.; Hyperinsulinism, congenital.; Hyperinsulinism, familial, with pancreatic nesidioblastosis.; Nesidioblastosis of pancreas.; Persistent hyperinsulinemic hypoglycemia of infancy.; PHHI.; ",
"cross_references": "MeSH; D044903.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF1 is the most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF1 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 2.",
"acronym": "HHF2.",
"accession": "DI-01580",
"synonyms": "Congenital hyperinsulinism.; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia.; Hyperinsulinism, congenital.; Hyperinsulinism, neonatal.; Nesidioblastosis.; Persistent hyperinsulinemic hypoglycemia of infancy.; PHHI.; ",
"cross_references": "MeSH; D044903.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hypogonadotropic hypogonadism 7 with or without anosmia.",
"acronym": "HH7.",
"accession": "DI-00595",
"synonyms": "Congenital hypogonadotropic hypogonadism normosmic.; HH.; Hypogonadotropic hypogonadism.; Idiopathic hypogonadotropic hypogonadism.; IHH.; Isolated hypogonadotropic hypogonadism.; ",
"cross_references": "MeSH; D007006.",
"definition": "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ",
"keywords": "KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Hypothyroidism, congenital, non-goitrous, 1.",
"acronym": "CHNG1.",
"accession": "DI-00362",
"synonyms": "Congenital hypothyroidism due to TSH resistance.; Hypothyroidism due to unresponsiveness to thyrotropin.; Non-autoimmune hypothyroidism.; RTSH.; Thyroid-stimulating hormone resistance.; Thyrotropin resistance.; TSH resistance.; ",
"cross_references": "MeSH; D003409.",
"definition": "A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 5.",
"acronym": "HSAN5.",
"accession": "DI-00549",
"synonyms": "Congenital insensitivity to pain.; Hereditary sensory neuropathy type V.; HSAN V.; HSN V.; ",
"cross_references": "MeSH; D009477.",
"definition": "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is variable. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 7.",
"acronym": "HSAN7.",
"accession": "DI-03988",
"synonyms": "Congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis.; Hereditary sensory and autonomic neuropathy type VII.; HSAN VII.; ",
"cross_references": "MeSH; D009477.",
"definition": "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Asplenia, isolated congenital.",
"acronym": "ICAS.",
"accession": "DI-03692",
"synonyms": "Congenital isolated hyposplenia.; Familial asplenia.; Splenic hypoplasia.; ",
"cross_references": "MeSH; D007153.",
"definition": "A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome. ",
"keywords": null
},
{
"identifier": "Cataract 16, multiple types.",
"acronym": "CTRCT16.",
"accession": "DI-02998",
"synonyms": "Congenital lamellar cataract.; CTPP2.; Posterior polar cataract 2.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Spondylometaphyseal dysplasia, Sedaghatian type.",
"acronym": "SMDS.",
"accession": "DI-04167",
"synonyms": "Congenital lethal metaphyseal chondrodysplasia.; Sedaghatian chondrodysplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Adrenal hyperplasia 1.",
"acronym": "AH1.",
"accession": "DI-01407",
"synonyms": "Congenital lipoid adrenal hyperplasia.; Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism.; Lipoid CAH.; ",
"cross_references": "MeSH; D000312.",
"definition": "The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted. ",
"keywords": "KW-0954:Congenital adrenal hyperplasia.; "
},
{
"identifier": "Macrodactyly.",
"acronym": "MADAC.",
"accession": "DI-05365",
"synonyms": "Congenital macrodactylia.; Megalodactyly.; Type I macrodactyly.; ",
"cross_references": "MeSH; D017880.",
"definition": "A congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth affecting the digits or the entire hand or foot. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 3 with rigid spine.",
"acronym": "CMYP3.",
"accession": "DI-00795",
"synonyms": "Congenital merosin-positive muscular dystrophy with early spine rigidity.; Congenital muscular dystrophy Eichsfeld type.; Congenital muscular dystrophy merosin-positive with early spine rigidity.; Desmin-related myopathy with Mallory bodies.; MDRS1.; Minicore myopathy severe classic form.; Multicore myopathy severe classic form.; Multiminicore disease severe classic form.; Rigid spine muscular dystrophy 1.; Rigid spine syndrome.; RSMD1.; RSS.; SEPN1-related myopathy.; ",
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive, slowly progressive muscular disorder apparent from birth or early childhood and characterized by hypotonia, proximal muscle weakness, poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Most patients remain ambulatory. Early ventilatory insufficiency may lead to death by respiratory failure. Additional features may include facial muscle weakness, amyotrophy, joint contractures, distal hyperlaxity, pulmonary hypertension with secondary cardiac dysfunction, and insulin resistance in patients with a low BMI. Skeletal muscle biopsy typically shows multiminicores and other abnormal non-specific myopathic findings. ",
"keywords": "KW-0911:Desmin-related myopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14.",
"acronym": "MDDGB14.",
"accession": "DI-03847",
"synonyms": "Congenital muscular dystrophy GMPPB-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and intellectual disability. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6.",
"acronym": "MDDGB6.",
"accession": "DI-01410",
"synonyms": "Congenital muscular dystrophy type 1D.; MDC1D.; Muscular dystrophy LARGE-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "A congenital muscular dystrophy associated with profound intellectual disability, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha- dystroglycan. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 16.",
"acronym": "CMS16.",
"accession": "DI-00365",
"synonyms": "Congenital myasthenic syndrome due to mutation in SCN4A.; Congenital myasthenic syndrome SCN4A-related.; Myasthenic syndrome, congenital, acetazolamide-responsive.; ",
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
}
]
}