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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5620",
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"results": [
{
"identifier": "Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss.",
"acronym": "DRTA3.",
"accession": "DI-01496",
"synonyms": "Autosomal recessive distal RTA.; Distal renal tubular acidosis with late-onset sensorineural hearing loss.; Distal renal tubular acidosis with preserved hearing.; ",
"cross_references": "MeSH; D000141.",
"definition": "An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ",
"keywords": null
},
{
"identifier": "Renal tubular acidosis, distal, 4, with hemolytic anemia.",
"acronym": "DRTA4.",
"accession": "DI-01237",
"synonyms": "Autosomal recessive distal RTA with hemolytic anemia.; ",
"cross_references": "MeSH; D000141.",
"definition": "An autosomal recessive disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. ",
"keywords": null
},
{
"identifier": "Renal tubular acidosis, distal, with normal red cell morphology.",
"acronym": "dRTA-NRC.",
"accession": "DI-03438",
"synonyms": null,
"cross_references": "MeSH; D000141.",
"definition": "A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ",
"keywords": null
},
{
"identifier": "Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development.",
"acronym": "pRTA-OA.",
"accession": "DI-02226",
"synonyms": "Autosomal recessive proximal RTA.; Proximal renal tubular acidosis with ocular abnormalities.; ",
"cross_references": "MeSH; D000141.",
"definition": "An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, intellectual disability, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. ",
"keywords": null
},
{
"identifier": "Renal tubular dysgenesis.",
"acronym": "RTD.",
"accession": "DI-02257",
"synonyms": null,
"cross_references": "MedGen; C2678367.",
"definition": "Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). ",
"keywords": null
},
{
"identifier": "RENI syndrome.",
"acronym": "RENI.",
"accession": "DI-05043",
"synonyms": "Nephrotic syndrome, type 14.; NPHS14.; Sphingosine phosphate lyase insufficiency syndrome.; SPLIS.; ",
"cross_references": "MeSH; D009404.",
"definition": "An autosomal recessive, steroid-resistant nephrotic syndrome that manifests in infancy or early childhood, and progresses to end-stage renal failure within a few years. Additional clinical features include ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. In rare cases, patients present with isolated primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. ",
"keywords": null
},
{
"identifier": "Renpenning syndrome 1.",
"acronym": "RENS1.",
"accession": "DI-02260",
"synonyms": "Golabi-Ito-Hall syndrome.; MRX55.; MRXS3.; MRXS8.; SHS.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked syndrome characterized by intellectual disability, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "Respiratory infections, recurrent, and failure to thrive with or without diarrhea.",
"acronym": "RIFTD.",
"accession": "DI-06600",
"synonyms": null,
"cross_references": "MeSH; D012141.",
"definition": "An autosomal recessive disorder characterized by neonatal onset of recurrent pulmonary infections, coughing, wheezy episodes, interstitial lung disease, and bronchiectasis. Episodes of vomiting and chronic diarrhea result in failure to thrive. Results of sweat chloride and pancreatic elastase tests are normal. ",
"keywords": null
},
{
"identifier": "Respiratory papillomatosis, juvenile recurrent, congenital.",
"acronym": "JRRP.",
"accession": "DI-05784",
"synonyms": null,
"cross_references": "MeSH; D030361.",
"definition": "An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. ",
"keywords": null
},
{
"identifier": "Restless legs syndrome 6.",
"acronym": "RLS6.",
"accession": "DI-02843",
"synonyms": null,
"cross_references": "MeSH; D012148.",
"definition": "A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. ",
"keywords": null
},
{
"identifier": "Restless legs syndrome 7.",
"acronym": "RLS7.",
"accession": "DI-02589",
"synonyms": null,
"cross_references": "MeSH; D012148.",
"definition": "A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. ",
"keywords": null
},
{
"identifier": "Restrictive dermopathy 1.",
"acronym": "RSDM1.",
"accession": "DI-01894",
"synonyms": "Fetal hypokinesia sequence due to restrictive dermopathy.; Hyperkeratosis-contracture syndrome.; Lethal tight skin contracture syndrome.; Restrictive dermopathy 1, lethal.; Tight skin contracture syndrome, lethal.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal recessive form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. ",
"keywords": null
},
{
"identifier": "Restrictive dermopathy 2.",
"acronym": "RSDM2.",
"accession": "DI-06366",
"synonyms": "Restrictive dermopathy 2 , lethal.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. ",
"keywords": null
},
{
"identifier": "Reticular dysgenesis.",
"acronym": "RDYS.",
"accession": "DI-02261",
"synonyms": "Aleukocytosis.; Congenital aleukia.; De Vaal disease.; Hematopoietic hypoplasia, generalized.; Severe combined immunodeficiency with leukopenia.; ",
"cross_references": "MeSH; D016511.",
"definition": "A fatal form of severe combined immunodeficiency, characterized by absence of granulocytes, almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immunity, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. Inheritance is autosomal recessive. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Reticulate acropigmentation of Kitamura.",
"acronym": "RAK.",
"accession": "DI-03962",
"synonyms": "Acropigmentatio reticularis.; Kitamura reticulate acropigmentation.; Reticulate pigmentation of Kitamura.; RPK.; ",
"cross_references": "MeSH; D010859.",
"definition": "A rare cutaneous pigmentation disorder characterized by reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet and appearing in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities. The manifestations tend to progress until middle age, after which progression of the eruptions stops. The pigmentary augmentation is found on the flexor aspects of the wrists, neck, patella and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, occasionally plantar keratoderma, and partial alopecia. ",
"keywords": null
},
{
"identifier": "Retinal arterial macroaneurysm with supravalvular pulmonic stenosis.",
"acronym": "RAMSVPS.",
"accession": "DI-03265",
"synonyms": null,
"cross_references": "MeSH; D012164.",
"definition": "An autosomal recessive condition characterized by the bilateral appearance of 'beading' along the major retinal arterial trunks, with the subsequent formation of macroaneurysms. Affected individuals also have supravalvular pulmonic stenosis, often requiring surgical correction. ",
"keywords": null
},
{
"identifier": "Retinal cone dystrophy 4.",
"acronym": "RCD4.",
"accession": "DI-02262",
"synonyms": null,
"cross_references": "MedGen; C1864849.",
"definition": "Characterized by minimal symptoms except for slowly progressive reduction in visual acuity. ",
"keywords": null
},
{
"identifier": "Retinal degeneration autosomal recessive clumped pigment type.",
"acronym": "RDCP.",
"accession": "DI-03088",
"synonyms": "Clumped pigmentary retinal degeneration.; ",
"cross_references": "MeSH; D012162.",
"definition": "A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short- wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present. ",
"keywords": null
},
{
"identifier": "Retinal dystrophy and microvillus inclusion disease.",
"acronym": "RDMVID.",
"accession": "DI-06172",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An autosomal recessive disease characterized by early-onset, severe retinal dystrophy associated with intractable congenital diarrhea. Intestinal biopsies show loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes. ",
"keywords": null
}
]
}