SOFT syndrome (original) (raw)
SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, is a rare genetic disorder characterized by the presence of short stature, underdeveloped nails, 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 gene, located in the short arm of chromosome 3. Less than 15 cases have been described in the medical literature.
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| dbo:abstract | SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, is a rare genetic disorder characterized by the presence of short stature, underdeveloped nails, 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 gene, located in the short arm of chromosome 3. Less than 15 cases have been described in the medical literature. (en) |
| dbo:alias | (en) Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (en) |
| dbo:thumbnail | wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
| dbo:wikiPageID | 72020706 (xsd:integer) |
| dbo:wikiPageLength | 8169 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1118812151 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Homozygous dbr:Metacarpals dbr:Metatarsals dbr:Low-set_ears dbr:Clinodactyly dbr:Clitoris dbr:Genetic_mutation dbr:Brachydactyly dbr:Osteopenia dbc:Autosomal_recessive_disorders dbr:Macrocephaly dbr:Macrostomia dbr:Tarsal_bone dbr:Medical_genetics dbr:Autosomal_recessive dbr:Chromosome_3 dbr:Caries dbr:Israel dbr:Hypertelorism dbr:Hypotonia dbr:Diabetes_mellitus dbr:Short_stature dbr:Philtrum dbr:Carpals dbr:POC1A dbr:Cone-shaped_incisors dbr:Deep-set_eyes dbr:Rs2279323 |
| dbp:caption | This condition is inherited following an autosomal recessive manner. (en) |
| dbp:causes | dbr:Genetic_mutation |
| dbp:name | SOFT syndrome (en) |
| dbp:specialty | dbr:Medical_genetics |
| dbp:synonyms | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (en) |
| dbp:wikiPageUsesTemplate | dbt:Orphan dbt:Reflist dbt:Infobox_medical_condition |
| dcterms:subject | dbc:Autosomal_recessive_disorders |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, is a rare genetic disorder characterized by the presence of short stature, underdeveloped nails, 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 gene, located in the short arm of chromosome 3. Less than 15 cases have been described in the medical literature. (en) |
| rdfs:label | SOFT syndrome (en) |
| owl:sameAs | wikidata:SOFT syndrome https://global.dbpedia.org/id/Gj4kU |
| prov:wasDerivedFrom | wikipedia-en:SOFT_syndrome?oldid=1118812151&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
| foaf:isPrimaryTopicOf | wikipedia-en:SOFT_syndrome |
| is foaf:primaryTopic of | wikipedia-en:SOFT_syndrome |
