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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=880&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=840&ordering=synonyms",
"results": [
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 4.",
"acronym": "PPGL4.",
"accession": "DI-01735",
"synonyms": "Carotid body tumors and multiple extraadrenal pheochromocytomas.; Familial chromaffin paraganglioma 4.; Paraganglioma familial malignant.; Paragangliomas 4.; Paragangliomas hereditary extraadrenal.; PGL4.; Pheochromocytoma extraadrenal and cervical paraganglioma.; Pheochromocytoma familial extraadrenal.; ",
"cross_references": "MeSH; D010235.",
"definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Pheochromocytoma/paraganglioma syndrome 1.",
"acronym": "PPGL1.",
"accession": "DI-01733",
"synonyms": "Carotid body tumors.; CBT1.; Chemodectomas.; Familial non-chromaffin paragangliomas 1.; Familial paragangliomas non-chromaffin 1 with or without deafness.; Glomus jugulare tumors.; Glomus tumors familial 1.; Paraganglioma carotid body.; Paragangliomas familial 1.; Paragangliomata.; PGL.; PGL1.; ",
"cross_references": "MeSH; D010235.",
"definition": "A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Mononeuropathy of the median nerve mild.",
"acronym": "MNMN.",
"accession": "DI-02929",
"synonyms": "Carpal tunnel syndrome.; ",
"cross_references": "MeSH; D002349.",
"definition": "A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. ",
"keywords": null
},
{
"identifier": "Intellectual disability-hypotonic facies syndrome, X-linked, 1.",
"acronym": "MRXHF1.",
"accession": "DI-00723",
"synonyms": "Carpenter-Waziri syndrome.; Chudley-Lowry syndrome.; CWS.; Holmes-Gang syndrome.; Intellectual disability X-linked with growth retardation deafness and microgenitalism.; JMS.; Juberg-Marsidi syndrome.; SFM1.; SFMS.; Smith-Fineman-Myers syndrome 1.; XLMR-hypotonic facies syndrome.; ",
"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. MRXSHF1 features include severe intellectual disability, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiomyopathy, dilated, with woolly hair and keratoderma.",
"acronym": "DCWHK.",
"accession": "DI-00230",
"synonyms": "Carvajal syndrome.; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair.; ",
"cross_references": "MeSH; D002311.",
"definition": "An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Cataract 11, multiple types.",
"acronym": "CTRCT11.",
"accession": "DI-02184",
"synonyms": "Cataract 11 with microphthalmia and neurodevelopmental abnormalities.; Cataract posterior polar 4.; CPP4.; CTPP4.; Syndromic cataract 11.; ",
"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. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 2, multiple types.",
"acronym": "CTRCT2.",
"accession": "DI-01425",
"synonyms": "Cataract 2, multiple types, with or without microcornea.; Cataract Coppock-like.; Cataract embryonic nuclear.; CCL.; Variable zonular pulverulent cataract.; ",
"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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 40.",
"acronym": "CTRCT40.",
"accession": "DI-02922",
"synonyms": "Cataract 40 with or without microcornea.; CCT.; Congenital total cataract with posterior sutural opacities in heterozygotes.; X-linked congenital cataract.; ",
"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. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 49.",
"acronym": "CTRCT49.",
"accession": "DI-06237",
"synonyms": "Cataract 49, posterior.; ",
"cross_references": "MeSH; D002386.",
"definition": "A form of cataract, 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. CTRCT49 is an autosomal dominant form characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 44.",
"acronym": "CTRCT44.",
"accession": "DI-04502",
"synonyms": "Cataract and hypotrichosis.; ",
"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. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 34, multiple types.",
"acronym": "CTRCT34.",
"accession": "DI-04893",
"synonyms": "Cataract, autosomal recessive congenital 3.; Cataract 34, multiple types, with or without microcornea.; CATC3.; ",
"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. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 10, multiple types.",
"acronym": "CTRCT10.",
"accession": "DI-01423",
"synonyms": "Cataract, congenital, zonular with sutural opacities.; CCZS.; ",
"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. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Nance-Horan syndrome.",
"acronym": "NHS.",
"accession": "DI-02027",
"synonyms": "Cataract-dental syndrome.; ",
"cross_references": "MedGen; C0796085.",
"definition": "Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, intellectual disability. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described. ",
"keywords": null
},
{
"identifier": "Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy.",
"acronym": "CTRCT46.",
"accession": "DI-04739",
"synonyms": "Cataract, juvenile, Hutterite type.; Cataract Hutterite type.; ",
"cross_references": "MeSH; D002386.",
"definition": "A form of cataract, 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. CTRCT46 can be associated with variable onset of a severe form of arrhythmic cardiomyopathy resulting in sudden cardiac death. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 47.",
"acronym": "CTRCT47.",
"accession": "DI-01327",
"synonyms": "Cataract, juvenile, with microcornea.; Cataract, juvenile, with microcornea and glucosuria.; Cataract 47, juvenile, with microcornea.; CJMG.; ",
"cross_references": "MeSH; D006030.",
"definition": "A form of cataract, 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. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 21, multiple types.",
"acronym": "CTRCT21.",
"accession": "DI-01394",
"synonyms": "Cataract, pulverulent or cerulean, with or without microcornea.; Cataract 21, multiple types, with or without microcornea.; Cataract pulverulent juvenile-onset.; CCA4.; Congenital cataract blue dot type 4.; Congenital cataract cerulean type 4.; ",
"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. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust- like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Oculoskeletodental syndrome.",
"acronym": "OCSKD.",
"accession": "DI-05573",
"synonyms": "Cataracts, early-onset, with skeletal and dental anomalies.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by congenital cataracts, short stature, dysmorphic features with coarse facies, dental anomalies, multiple skeletal abnormalities, and neurological manifestations. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis. ",
"keywords": "KW-0242:Dwarfism.; KW-0898:Cataract.; "
},
{
"identifier": "Spastic paraplegia 9A, autosomal dominant.",
"acronym": "SPG9A.",
"accession": "DI-04556",
"synonyms": "Cataracts with motor neuronopathy, short stature, and skeletal abnormalities.; Spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9A patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Galactosialidosis.",
"acronym": "GSL.",
"accession": "DI-01644",
"synonyms": "Cathepsin A deficiency.; Goldberg syndrome.; Lysosomal protective protein deficiency.; Neuraminidase deficiency with beta-galactosidase deficiency.; PPCA deficiency.; Protective protein cathepsin A deficiency.; ",
"cross_references": "MeSH; D016464.",
"definition": "A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, intellectual disability, neurologic deterioration, absence of visceromegaly, and long survival. ",
"keywords": null
},
{
"identifier": "Parietal foramina 1.",
"acronym": "PFM1.",
"accession": "DI-02130",
"synonyms": "Catlin marks.; Cranium bifidum, hereditary.; Cranium bifidum occultum.; Enlarged parietal foramina.; Foramina parietalia permagna.; FPP.; Parietal foramina, symmetric.; PFM.; ",
"cross_references": "MeSH; D004677.",
"definition": "Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. ",
"keywords": null
}
]
}