01:54, 2 January 2023Rollcloudtalkcontribs created page
Lymphedema-posterior choanal atresia syndrome(
←Created page with '{{Infobox medical condition |name = Lymphedema-posterior choanal atresia syndrome |synonyms = <!-- or |synonym= --> |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 editMobile web edit
02:35, 27 December 2022Rollcloudtalkcontribs created page
Isolated hyperchlorhidrosis(
←Created page with '{{Infobox medical condition |name = Isolated hyperchlorhidrosis |synonyms = <!-- or |synonym= --> |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 editMobile web edit
00:42, 25 December 2022Rollcloudtalkcontribs 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 editMobile web edit
07:57, 28 October 2022Rollcloudtalkcontribs 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 editMobile web edit
18:12, 23 October 2022Rollcloudtalkcontribs 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 editMobile web edit
00:47, 19 October 2022Rollcloudtalkcontribs 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 editMobile editMobile web edit
19:28, 16 October 2022Rollcloudtalkcontribs 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 editMobile web editDisambiguation links added
11:51, 16 October 2022Rollcloudtalkcontribs 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 editMobile web edit
16:30, 15 October 2022Rollcloudtalkcontribs 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 editMobile web edit
00:49, 12 October 2022Rollcloudtalkcontribs 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 editMobile web edit
01:35, 10 October 2022Rollcloudtalkcontribs 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 editMobile web editDisambiguation links added
23:06, 7 October 2022Rollcloudtalkcontribs 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 editMobile web edit
13:16, 1 October 2022Rollcloudtalkcontribs 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 editMobile web edit
21:11, 29 September 2022Rollcloudtalkcontribs 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 editMobile editMobile web edit
14:35, 25 September 2022Rollcloudtalkcontribs 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 editMobile editMobile web edit
13:39, 25 September 2022Rollcloudtalkcontribs 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 editMobile web editDisambiguation links added
20:48, 24 September 2022Rollcloudtalkcontribs created page
Hypohidrotic ectodermal dysplasia with immune deficiency(
←Created page with '{{Infobox medical condition |name = Hypohidrotic ectodermal dysplasia with immune deficiency |synonyms = <!-- or |synonym= --> |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 editMobile web edit
15:30, 11 September 2022Rollcloudtalkcontribs 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 editMobile editMobile web edit
01:54, 2 January 2023Rollcloudtalkcontribs created page
Lymphedema-posterior choanal atresia syndrome(
←Created page with '{{Infobox medical condition |name = Lymphedema-posterior choanal atresia syndrome |synonyms = <!-- or |synonym= --> |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 editMobile web edit
02:35, 27 December 2022Rollcloudtalkcontribs created page
Isolated hyperchlorhidrosis(
←Created page with '{{Infobox medical condition |name = Isolated hyperchlorhidrosis |synonyms = <!-- or |synonym= --> |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 editMobile web edit
00:42, 25 December 2022Rollcloudtalkcontribs 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 editMobile web edit
07:57, 28 October 2022Rollcloudtalkcontribs 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 editMobile web edit
18:12, 23 October 2022Rollcloudtalkcontribs 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 editMobile web edit
00:47, 19 October 2022Rollcloudtalkcontribs 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 editMobile editMobile web edit
19:28, 16 October 2022Rollcloudtalkcontribs 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 editMobile web editDisambiguation links added
11:51, 16 October 2022Rollcloudtalkcontribs 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 editMobile web edit
16:30, 15 October 2022Rollcloudtalkcontribs 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 editMobile web edit
00:49, 12 October 2022Rollcloudtalkcontribs 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 editMobile web edit
01:35, 10 October 2022Rollcloudtalkcontribs 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 editMobile web editDisambiguation links added
23:06, 7 October 2022Rollcloudtalkcontribs 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 editMobile web edit
13:16, 1 October 2022Rollcloudtalkcontribs 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 editMobile web edit
21:11, 29 September 2022Rollcloudtalkcontribs 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 editMobile editMobile web edit
14:35, 25 September 2022Rollcloudtalkcontribs 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 editMobile editMobile web edit
13:39, 25 September 2022Rollcloudtalkcontribs 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 editMobile web editDisambiguation links added
20:48, 24 September 2022Rollcloudtalkcontribs created page
Hypohidrotic ectodermal dysplasia with immune deficiency(
←Created page with '{{Infobox medical condition |name = Hypohidrotic ectodermal dysplasia with immune deficiency |synonyms = <!-- or |synonym= --> |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 editMobile web edit
15:30, 11 September 2022Rollcloudtalkcontribs 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 editMobile editMobile web edit