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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4500&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4460&ordering=-synonyms",
"results": [
{
"identifier": "Tooth agenesis, selective, 3.",
"acronym": "STHAG3.",
"accession": "DI-02091",
"synonyms": "HYD3.; Hypodontia/oligodontia 3.; Selective tooth agenesis 3.; ",
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). ",
"keywords": null
},
{
"identifier": "Mucopolysaccharidosis 9.",
"acronym": "MPS9.",
"accession": "DI-00782",
"synonyms": "Hyaluronidase deficiency.; MPS IX.; Mucopolysaccharidosis type IX.; ",
"cross_references": "MeSH; D009083.",
"definition": "A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS9 is an autosomal recessive form characterized by high hyaluronan concentration in the serum. Clinical features include periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Lipoid proteinosis.",
"acronym": "LiP.",
"accession": "DI-01909",
"synonyms": "Hyalinosis cutis et mucosae.; Lipoid proteinosis of Urbach and Wiethe.; ",
"cross_references": "MedGen; C0023795.",
"definition": "Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane. ",
"keywords": null
},
{
"identifier": "Respiratory distress syndrome in premature infants.",
"acronym": "RDS.",
"accession": "DI-02716",
"synonyms": "Hyaline membrane disease.; RDS in prematurity.; ",
"cross_references": "MeSH; D006819.",
"definition": "A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high- permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 7A, myosin storage, autosomal dominant.",
"acronym": "CMYP7A.",
"accession": "DI-02021",
"synonyms": "Hyaline body myopathy autosomal dominant.; MSMA.; Myopathy, myosin storage, autosomal dominant.; Scapuloperoneal muscular dystrophy.; Scapuloperoneal myopathy MYH7-related.; Scapuloperoneal syndrome, myopathic type.; SPMD.; SPMM.; ",
"cross_references": "MeSH; D009135.",
"definition": "A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. ",
"keywords": null
},
{
"identifier": "Hurthle cell thyroid carcinoma.",
"acronym": "HCTC.",
"accession": "DI-02876",
"synonyms": "Hurthle cell carcinoma.; Hurthle cell thyroid neoplasia.; ",
"cross_references": "MeSH; D013964.",
"definition": "A rare type of thyroid cancer accounting for only about 3-10% of all differentiated thyroid cancers. These neoplasms are considered a variant of follicular carcinoma of the thyroid and are referred to as follicular carcinoma, oxyphilic type. ",
"keywords": null
},
{
"identifier": "Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.",
"acronym": "HUPRAS.",
"accession": "DI-03111",
"synonyms": "HUPRA syndrome.; ",
"cross_references": "MeSH; D051437.",
"definition": "A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. ",
"keywords": null
},
{
"identifier": "Mucopolysaccharidosis 2.",
"acronym": "MPS2.",
"accession": "DI-00773",
"synonyms": "Hunter syndrome.; IDS deficiency.; Iduronate 2-sulfatase deficiency.; MPS II.; Mucopolysaccharidosis type II.; SIDS deficiency.; Sulfoiduronate sulfatase deficiency.; ",
"cross_references": "MeSH; D016532.",
"definition": "An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to intellectual disability and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without intellectual disability. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Hypotrichosis 3.",
"acronym": "HYPT3.",
"accession": "DI-03172",
"synonyms": "HTSS2.; Hypotrichosis simplex of the scalp 2.; ",
"cross_references": "MeSH; D007039.",
"definition": "A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT3 inheritance is autosomal dominant. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 2.",
"acronym": "HYPT2.",
"accession": "DI-01802",
"synonyms": "HTSS1.; Hypotrichosis simplex of the scalp 1.; Hypotrichosis Spanish type.; ",
"cross_references": "MeSH; D007039.",
"definition": "A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. HYPT2 inheritance is autosomal dominant. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis 6.",
"acronym": "HYPT6.",
"accession": "DI-01912",
"synonyms": "HTL.; Hypotrichosis localized autosomal recessive.; Hypotrichosis localized autosomal recessive 1.; LAH.; LAH1.; Monilethrix-like hypotrichosis.; ",
"cross_references": "MeSH; D007039.",
"definition": "A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT6 inheritance is autosomal recessive. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Spondyloepiphyseal dysplasia with congenital joint dislocations.",
"acronym": "SEDCJD.",
"accession": "DI-01753",
"synonyms": "HSD.; Humerospinal dysostosis.; SED Omani type.; Spondyloepiphyseal dysplasia Omani type.; ",
"cross_references": "MeSH; D010009.",
"definition": "A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. ",
"keywords": null
},
{
"identifier": "Hydrocephalus, congenital, X-linked.",
"acronym": "HYCX.",
"accession": "DI-01759",
"synonyms": "HSAS.; Hydrocephalus due to stenosis of the aqueduct of Sylvius.; ",
"cross_references": "MeSH; D006849.",
"definition": "An X-linked recessive form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYCX is the most common inherited form and occurs in approximately 1/30000 male births. The primary diagnostic criteria of intellectual disability and enlarged cerebral ventricles are often accompanied by spastic paraparesis and adducted thumbs and, occasionally, visual defects or seizures. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder. ",
"keywords": null
},
{
"identifier": "Paganini-Miozzo syndrome.",
"acronym": "MRXSPM.",
"accession": "DI-05579",
"synonyms": "HS6ST2-CDG.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Spherocytosis 4.",
"acronym": "SPH4.",
"accession": "DI-02324",
"synonyms": "HS4.; Spherocytosis, hereditary, 4.; Spherocytosis, type 4.; ",
"cross_references": "MeSH; D013103.",
"definition": "An autosomal dominant form of spherocytosis, a group of hematologic disorders characterized by the presence of numerous abnormally shaped erythrocytes which are generally spheroidal. Affected individuals have anemia, jaundice, and splenomegaly. Clinical severity is variable. Some individuals are asymptomatic, whereas others have severe hemolytic anemia requiring erythrocyte transfusion. ",
"keywords": null
},
{
"identifier": "Hyperuricemia, HPRT-related.",
"acronym": "HRH.",
"accession": "DI-01683",
"synonyms": "HPRT1 deficiency, partial.; HPRT deficiency, partial.; HPRT-related gout.; Kelley-Seegmiller syndrome.; ",
"cross_references": "MeSH; D006073.",
"definition": "An X-linked metabolic disorder characterized by uric acid excess in the blood, renal stones, uric acid nephropathy, and renal obstruction. After puberty, the hyperuricemia may cause gout. ",
"keywords": null
},
{
"identifier": "Hypophosphatasia.",
"acronym": "HOPS.",
"accession": "DI-01796",
"synonyms": "HPPA.; Hypophosphatasia, adult.; Hypophosphatasia, mild.; ",
"cross_references": "MeSH; D007014.",
"definition": "A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia). ",
"keywords": null
},
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 11.",
"acronym": "GPIBD11.",
"accession": "DI-04229",
"synonyms": "HPMRS5.; ",
"cross_references": "MeSH; D010760.",
"definition": "An autosomal recessive neurologic disorder characterized by developmental delay, intellectual disability, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperprolinemia 1.",
"acronym": "HYRPRO1.",
"accession": "DI-01782",
"synonyms": "HPI.; Hyperprolinemia type I.; Proline oxidase deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and intellectual disability. Association with certain forms of schizophrenia have been reported. ",
"keywords": null
},
{
"identifier": "Hypophosphatemic rickets, X-linked dominant.",
"acronym": "XLHRD.",
"accession": "DI-02447",
"synonyms": "HPDR.; HYP.; Hypophosphatemia X-linked.; Hypophosphatemic vitamin D-resistant rickets.; Vitamin D-resistant rickets X-linked.; XLH.; ",
"cross_references": "MeSH; D053098.",
"definition": "A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. ",
"keywords": null
}
]
}