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Statements

Subject Item
dbr:SOFT_syndrome
rdf:type
dbo:Disease owl:Thing wikidata:Q12136
rdfs:label
SOFT syndrome
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.
dbp:name
SOFT syndrome
foaf:depiction
n8:Autosomal_recessive_-_en.svg
dcterms:subject
dbc:Autosomal_recessive_disorders
dbo:wikiPageID
72020706
dbo:wikiPageRevisionID
1118812151
dbo:wikiPageWikiLink
dbr:Medical_genetics dbr:Low-set_ears dbr:POC1A dbr:Osteopenia dbr:Brachydactyly dbr:Macrocephaly dbr:Autosomal_recessive dbr:Philtrum dbr:Hypertelorism dbr:Rs2279323 dbr:Tarsal_bone dbc:Autosomal_recessive_disorders dbr:Hypotonia dbr:Caries dbr:Chromosome_3 dbr:Cone-shaped_incisors dbr:Diabetes_mellitus dbr:Metacarpals dbr:Metatarsals dbr:Genetic_mutation dbr:Clitoris dbr:Clinodactyly dbr:Short_stature dbr:Carpals dbr:Macrostomia dbr:Israel dbr:Homozygous dbr:Deep-set_eyes
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dbo:thumbnail
n8:Autosomal_recessive_-_en.svg?width=300
dbp:caption
This condition is inherited following an autosomal recessive manner.
dbp:causes
dbr:Genetic_mutation
dbp:synonyms
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
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.
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wikipedia-en:SOFT_syndrome?oldid=1118812151&ns=0
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8169
dbo:alias
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
foaf:isPrimaryTopicOf
wikipedia-en:SOFT_syndrome