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01:54, 2 January 2023 Rollcloud talk contribs created page Lymphedema-posterior choanal atresia syndrome (←Created page with '{{Infobox medical condition |name = Lymphedema-posterior choanal atresia syndrome |synonyms =  |image = Autosomal recessive - en.svg |image_size = |alt = |image_thumbtime = |caption = |width = |image2 = |image_size2 = |alt2 = |image_thumbtime2 = |caption2 = |width2 = |pronounce = |pronounce 2 = |s...') Tags: Mobile edit Mobile web edit
02:35, 27 December 2022 Rollcloud talk contribs created page Isolated hyperchlorhidrosis (←Created page with '{{Infobox medical condition |name = Isolated hyperchlorhidrosis |synonyms =  |image = Autosomal recessive - en.svg |image_size = |alt = |image_thumbtime = |caption = This condition is inherited in an autosomal recessive manner. |width = |image2 = |image_size2 = |alt2 = |image_thumbtime2 = |caption2 = |width2 = |...') Tags: Mobile edit Mobile web edit
00:42, 25 December 2022 Rollcloud talk contribs created page Progressive bifocal chorioretinal atrophy (←Created page with ''''Progressive bifocal chorioretinal atrophy''', also known for it's abbreviations '''PBCRA''' or '''CRAPB''', is a rare, slowly progressive, autosomal dominant syndrome characterized by large-sized atrophic lesions in the macular and nasal retina, myopia, low visual acuity, and nystagmus. It has been described in 1 family from Scotland and 2 families from France. The condition is caused by point mutations in a region in the long arm of ch...') Tags: Mobile edit Mobile web edit
22:52, 23 December 2022 Rollcloud talk contribs created page Draft:Epidemiology of myopia (introduction, Africa, and part of Asia.) Tags: use of predatory open access journal Mobile edit Mobile web edit Disambiguation links added
22:42, 23 December 2022 Rollcloud talk contribs created page User talk:Rollcloud/sandbox (Adding WikiProject tags using AfC-submit-wizard)
07:57, 28 October 2022 Rollcloud talk contribs created page Faciocardiorenal syndrome (←Created page with '{{Infobox medical condition | name = | synonyms = Eastman Bixler syndrome<ref>{{Cite web |title=Faciocardiorenal syndrome |url=https://rarediseases.org/gard-rare-disease/faciocardiorenal-syndrome/ |access-date=2022-10-28 |website=NORD (National Organization for Rare Disorders) |language=en-US}}</ref> | image = Autosomal recessive - en.svg | image_size = | alt = | image_thumbtime = | caption = | width =...') Tags: Mobile edit Mobile web edit
18:12, 23 October 2022 Rollcloud talk contribs created page Spondyloenchondrodysplasia (←Created page with ' {{Infobox medical condition |name = Spondyloenchondrodysplasia |synonyms = Spondyloenchondrodysplasia with immune dysregulation, Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, Roifman immunoskeletal syndrome, SPENCD (abbr.), SEM (abbr.), Spondylometaphyseal dysplasia with enchondromatous changes, Spondyloenchondromatosis<ref>{{Cite web |title=UniProt |url=https://www.uniprot.org/diseases/DI-03197 |access-...') Tags: Mobile edit Mobile web edit
00:47, 19 October 2022 Rollcloud talk contribs created page Radio-renal syndrome (←Created page with '{{Infobox medical condition | name = Radio-renal syndrome | synonyms = Radio renal syndrome<ref>{{Cite web |title=Radio renal syndrome |url=https://rarediseases.org/gard-rare-disease/radio-renal-syndrome/ |access-date=2022-10-19 |website=NORD (National Organization for Rare Disorders) |language=en-US}}</ref> | image = Autosomal dominant - en.svg | image_size = | alt = | image_thumbtime = | caption = | width...') Tags: Visual edit Mobile edit Mobile web edit
20:05, 16 October 2022 Rollcloud talk contribs created page File:Family pedigree and electron micrographic image of the skeletal muscles of a patient with Compton-North congenital myopathy.jpg (Uploading an excerpt from a non-free work using File Upload Wizard)
20:05, 16 October 2022 Rollcloud talk contribs uploaded File:Family pedigree and electron micrographic image of the skeletal muscles of a patient with Compton-North congenital myopathy.jpg (Uploading an excerpt from a non-free work using File Upload Wizard)
19:28, 16 October 2022 Rollcloud talk contribs created page Compton-North congenital myopathy (←Created page with ''''Compton-North congenital myopathy''', also known as '''Congenital lethal myopathy, Compton-North type''', is a rare, fatal genetic disorder with pre-natal onset characterized by fetal akinesia and movement restriction, polyhydramnios, severe hypotonia of neonatal-onset, generalized weakness of the respiratory, bulbar, and skeletal muscles, presence of multiple congenital muscular contractures. Ultrastructural findings include sarcomeric d...') Tags: Mobile edit Mobile web edit Disambiguation links added
11:51, 16 October 2022 Rollcloud talk contribs created page SOFT syndrome (←Created page with ''''SOFT syndrome''', also known for the name it's acronym originates from: '''Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome''', is a rare genetic disorder characterized by the presence of short stature, nail hypoplasia, facial dysmorphisms (such as long triangular face, down-slanting palpebral fissures, etc.), and hair sparcity across the body. It is caused by homozygous, autosomal recessive mutations in the POC1A g...') Tags: Mobile edit Mobile web edit
16:30, 15 October 2022 Rollcloud talk contribs created page Familial natural short sleep (←Created page with '{{Infobox medical condition |name = Familial natural short sleep |synonyms = |image = Autosomal dominant - en.svg |image_size = |alt = |image_thumbtime = |caption = This condition is inherited as an autosomal dominant trait |width = |image2 = |image_size2 = |alt2 = |image_thumbtime2 = |caption2 = |width2 = |pronounce = |pro...') Tags: Mobile edit Mobile web edit
01:06, 12 October 2022 Rollcloud talk contribs created page File:X-ray of the skull of patients with familial calvarial doughnut lesions syndrome.png (Uploading an excerpt from a non-free work using File Upload Wizard)
01:06, 12 October 2022 Rollcloud talk contribs uploaded File:X-ray of the skull of patients with familial calvarial doughnut lesions syndrome.png (Uploading an excerpt from a non-free work using File Upload Wizard)
00:49, 12 October 2022 Rollcloud talk contribs created page Calvarial doughnut lesions-bone fragility syndrome (←Created page with '{{User sandbox}} {{Infobox medical condition |name = Calvarial doughnut lesions-bone fragility syndrome |synonyms = |image = Autosomal dominant - en.svg |image_size = |alt = |image_thumbtime = |caption = This condition is inherited as an autosomal dominant trait |width = |image2 = |image_size2 = |alt2 = |image_thumbtime2 = |caption2 = |width...') Tags: Mobile edit Mobile web edit
01:35, 10 October 2022 Rollcloud talk contribs created page Salt and pepper syndrome (←Created page with '{{Infobox medical condition |name = Salt and pepper syndrome |synonyms = Amish infantile epilepsy syndrome, ST3GAL5-CDG, Salt and pepper mental retardation syndrome, Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness, Epilepsy syndrome, infantile-onset symptomatic<ref>{{Cite web |title=GM3 synthase deficiency |url=https://rarediseases.org/gard-rare-disease/gm3-synthase-deficiency/ |access-date=2022-10-09...') Tags: Mobile edit Mobile web edit Disambiguation links added
23:06, 7 October 2022 Rollcloud talk contribs created page Wolfram-like syndrome (←Created page with '{{Infobox medical condition |name = Wolfram-like syndrome |synonyms = Atypical Wolfram syndrome<ref>{{Cite web |last=Mair, Fowler, Papatzanaki, Sudhakar, S. Maldonado |first=Hailey, Nicholas, Maria, Padmaja, Ramiro |date=April 21, 2022 |title=Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome |url=https://www.tandfonline.com/action/cookieAbsent |access-date=2022-10-07 |website=www.tandfonline.com |doi=10.108...') Tags: Mobile edit Mobile web edit
13:16, 1 October 2022 Rollcloud talk contribs created page Rs16891982 (←Created page with '{{Infobox single nucleotide polymorphism|rsid=rs16891982|name_1=F374L|name_2=|name_3=|gene=SLC45A2|chromosome=5|region=|alfred=|alzgene_geneid=|alzgene_polyid=|pdgene_geneid=|pdgene_polyid=|szgene_geneid=|szgene_polyid=}} In genetics, '''rs16891982''', also known as '''F374L''', is the name for a single nucleotide polymorphism found in the SLC45A2 gene. The SNP consists of two alleles: C (cytosine) and G (guanine), the latter of which is as...') Tags: Mobile edit Mobile web edit
21:11, 29 September 2022 Rollcloud talk contribs created page Ankylosing vertebral hyperostosis with tylosis (←Created page with ''''Ankylosing vertebral hyperostosis with tylosis''' is a rare autosomal dominant genetic disorder characterized by ossification of the paraspinal ligament, sclerosis of the sacroiliac joint, and punctate hyperkeratosis (affecting the soles and palms).<ref>{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Ankylosing vertebral hyperostosis with tylosis |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2206 |acces...') Tags: Visual edit Mobile edit Mobile web edit
14:35, 25 September 2022 Rollcloud talk contribs created page Porencephaly-cerebellar hypoplasia-internal malformations syndrome (←Created page with ''''Porencephaly-cerebellar hypoplasia-internal malformations syndrome''' is a rare autosomal recessive syndrome that mainly affects the central nervous system.<ref>{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Porencephaly cerebellar hypoplasia internal malformations syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2941 |access-date=2022-09-25 |website=www.orpha.net |language=en}}</ref> It causes cardi...') Tags: Visual edit Mobile edit Mobile web edit
13:39, 25 September 2022 Rollcloud talk contribs created page Keratosis follicularis-dwarfism-cerebral atrophy syndrome (←Created page with '{{Infobox medical condition |name = |synonyms = Dwarfism, cerebral atrophy and generalized keratosis follicularis<ref>https://rarediseases.org/gard-rare-disease/keratosis-follicularis-dwarfism-and-cerebral-atrophy/</ref> |image = X-linked recessive (2).svg |image_size = |alt = |image_thumbtime = |caption = |width = |image2 = |image_size2 = |alt2 = |im...') Tags: Mobile edit Mobile web edit Disambiguation links added
20:48, 24 September 2022 Rollcloud talk contribs created page Hypohidrotic ectodermal dysplasia with immune deficiency (←Created page with '{{Infobox medical condition |name = Hypohidrotic ectodermal dysplasia with immune deficiency |synonyms =  |image = X-linked recessive - en.svg |image_size = |alt = |image_thumbtime = |caption = This condition is ''usually'' inherited in an X-linked recessive manner |width = |image2 = |image_size2 = |alt2 = |image_thumbtime2 = |capt...') Tags: Mobile edit Mobile web edit
13:35, 24 September 2022 Rollcloud talk contribs created page Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome (←Created page with ''''Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome''' is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre-Robin sequence. Around 6 to 12 cases have been described in medical literature. This condition has also been called ''heart-hand syndrome type 5''. == Cases == This condition was first discovered in 1992 by Stoll et al, when they described...') Tags: Visual edit Mobile edit Mobile web edit
11:58, 24 September 2022 Rollcloud talk contribs created page Pyknoachondrogenesis (←Created page with '{{Infobox medical condition |name = |synonyms = Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis<ref>https://rarediseases.org/gard-rare-disease/pyknoachondrogenesis/</ref> |image = Autosomal recessive - en.svg |image_size = |alt = |image_thumbtime = |caption = |width = |image2 = |image_size2 = |alt2 = |image_t...') Tags: Mobile edit Mobile web edit
19:28, 22 September 2022 Rollcloud talk contribs created page Aplasia cutis-myopia syndrome (←Created page with '{{Infobox medical condition | name = Aplasia cutis-myopia syndrome | synonyms = Aplasia cutis congenita, high myopia, and cone-rod dysfunction | image = | image_size = | alt = | image_thumbtime = | caption = | width = | image2 = | image_size2 = | alt2 = | image_thumbtime2 = | caption2 = | width2 = | pronounce = | pronounce 2 = | specialty = Medical genet...') Tags: Visual edit Mobile edit Mobile web edit
01:43, 14 September 2022 Rollcloud talk contribs created page Cochleosaccular degeneration with progressive cataracts (←Created page with '{{Infobox medical condition |name = |synonyms =  |image = Autosomal dominant - en.svg |image_size = |alt = |image_thumbtime = |caption = |width = |image2 = |image_size2 = |alt2 = |image_thumbtime2 = |caption2 = |width2 = |pronounce = |pronounce 2 = |specialty = Medical genetics, Audio...') Tags: Mobile edit Mobile web edit
15:30, 11 September 2022 Rollcloud talk contribs created page Graham-Boyle-Troxell syndrome (←Created page with ''''Graham-Boyle-Troxell syndrome''', also known as '''Cystic hamartoma of the lung and kidney''', is an extremely rare congenital malformation which is characterized by benign hamartomatous cysts present in the lung and kidney.<ref>{{Cite web |last=RESERVED |first=INSERM US14-- ALL RIGHTS |title=Orphanet: Search a disease |url=https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2022 |access-date=2022-09-11 |website=www.orpha.net |language...') Tags: Visual edit Mobile edit Mobile web edit
02:27, 11 September 2022 Rollcloud talk contribs created page Sonoda syndrome (←Created page with ''''Sonoda syndrome''' is a rare genetic disorder characterized by cranio-facial dysmorphisms, fingerprint abnormalities, intellectual disability, and congenital cardiopathy. It has been described in a Japanese family. == History == This condition has only been described once in history in three siblings from Japan (1987). This trio of siblings was born in Miyazaki, Japan to healthy, non-consanguineous Japanese parents who were in...') Tags: Mobile edit Mobile web edit Disambiguation links added
03:05, 10 September 2022 Rollcloud talk contribs moved page Draft talk:Autosomal dominant cerebellar ataxia, deafness, and narcolepsy to Talk:Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
03:05, 10 September 2022 Rollcloud talk contribs moved page Draft:Autosomal dominant cerebellar ataxia, deafness, and narcolepsy to Autosomal dominant cerebellar ataxia, deafness, and narcolepsy Tag: Disambiguation links added
18:46, 9 September 2022 Rollcloud talk contribs moved page Talk:Autosomal dominant cerebellar ataxia, deafness, and narcolepsy to Draft talk:Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (for expansion of article)
18:46, 9 September 2022 Rollcloud talk contribs moved page Autosomal dominant cerebellar ataxia, deafness, and narcolepsy to Draft:Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (for expansion of article)
00:15, 9 September 2022 Rollcloud talk contribs moved page Draft:Pulmonary atresia with ventricular septal defect to Pulmonary atresia with ventricular septal defect (finished) Tag: Disambiguation links added
19:29, 8 September 2022 Rollcloud talk contribs created page Major aortapulmonary collateral arteries (←Redirected page to Major aortopulmonary collateral artery) Tags: New redirect Mobile edit Mobile web edit
18:47, 7 September 2022 Rollcloud talk contribs moved page Pulmonary atresia with ventricular septal defect to Draft:Pulmonary atresia with ventricular septal defect
18:46, 7 September 2022 Rollcloud talk contribs created page Pulmonary atresia with ventricular septal defect (←Created page with ''''Pulmonary atresia with ventricular septal defect''' is a rare birth defect characterized by pulmonary valve atresia occurring alongside a defect on the right ventricular outflow tract.') Tags: Mobile edit Mobile web edit
21:57, 6 September 2022 Rollcloud talk contribs moved page Draft:X-linked complicated corpus callosum dysgenesis to X-linked complicated corpus callosum dysgenesis over redirect Tag: Disambiguation links added
21:57, 6 September 2022 Rollcloud talk contribs deleted redirect X-linked complicated corpus callosum dysgenesis by overwriting (G6: Deleted to make way for move)
20:01, 6 September 2022 Rollcloud talk contribs moved page X-linked complicated corpus callosum dysgenesis to Draft:X-linked complicated corpus callosum dysgenesis
19:59, 6 September 2022 Rollcloud talk contribs created page X-linked complicated corpus callosum dysgenesis (←Created page with ''''X-linked complicated corpus callosum dysgenesis''' is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases (all male) have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome. This condition differs from other L1 syndromes due to the fact that neith...') Tags: Mobile edit Mobile web edit
19:18, 6 September 2022 Rollcloud talk contribs created page Histidinuria-renal tubular defect syndrome (←Created page with '{{Infobox medical condition |name = Histidinuria-renal tubular defect syndrome |synonyms =  |image = |image_size = |alt = |image_thumbtime = |caption = |width = |image2 = |image_size2 = |alt2 = |image_thumbtime2 = |caption2 = |width2 = |pronounce = |pronounce 2 = |specialty = Medical gene...') Tags: Mobile edit Mobile web edit
22:50, 5 September 2022 Rollcloud talk contribs moved page Draft:Severe intellectual disability-progressive spastic diplegia syndrome to Severe intellectual disability-progressive spastic diplegia syndrome over redirect Tag: Disambiguation links added
22:50, 5 September 2022 Rollcloud talk contribs deleted redirect Severe intellectual disability-progressive spastic diplegia syndrome by overwriting (G6: Deleted to make way for move)
18:02, 5 September 2022 Rollcloud talk contribs moved page Severe intellectual disability-progressive spastic diplegia syndrome to Draft:Severe intellectual disability-progressive spastic diplegia syndrome
18:02, 5 September 2022 Rollcloud talk contribs created page Severe intellectual disability-progressive spastic diplegia syndrome (←Created page with ''''Severe intellectual disability-progressive spastic diplegia syndrome''' is a rare genetic disorder characterized by severe intellectual disabilities, ataxia, craniofacial dysmorphisms, and muscle spasticity.') Tags: Mobile edit Mobile web edit
19:01, 4 September 2022 Rollcloud talk contribs moved page Draft:Hereditary neurocutaneous angioma to Hereditary neurocutaneous angioma over redirect
19:01, 4 September 2022 Rollcloud talk contribs deleted redirect Hereditary neurocutaneous angioma by overwriting (G6: Deleted to make way for move)
17:27, 4 September 2022 Rollcloud talk contribs moved page Hereditary neurocutaneous angioma to Draft:Hereditary neurocutaneous angioma
17:26, 4 September 2022 Rollcloud talk contribs created page Hereditary neurocutaneous angioma (←Created page with ''''Hereditary neurocutaneous angioma''' is a rare genetic disorder characterized by the appearance of angiomas on the surface of the skin, brain, and spinal cord in multiple members of a single family. == References == {{reflist}}') Tags: Mobile edit Mobile web edit

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