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- Achondrogenesis_type_1B abstract "Achondrogenesis, type 1B is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward. Affected infants frequently have a soft out-pouching around the belly-button (an umbilical hernia) or near the groin (an inguinal hernia).Achondrogenesis, type 1B is a rare genetic disorder; its incidence is unknown. Achondrogenesis, type 1B is the most severe condition in a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of achondrogenesis, type 1B.Achondrogenesis, type 1B is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.".
- Achondrogenesis_type_1B icd10 "Q77.0".
- Achondrogenesis_type_1B omim "600972".
- Achondrogenesis_type_1B wikiPageExternalLink ghr.nlm.nih.gov.
- Achondrogenesis_type_1B wikiPageExternalLink br.fcgi?book=gene&part=achon1b.
- Achondrogenesis_type_1B wikiPageID "3070145".
- Achondrogenesis_type_1B wikiPageRevisionID "565915971".
- Achondrogenesis_type_1B diseasesdb "33350".
- Achondrogenesis_type_1B hasPhotoCollection Achondrogenesis_type_1B.
- Achondrogenesis_type_1B icd "Q77.0".
- Achondrogenesis_type_1B name "Achondrogenesis type 1B".
- Achondrogenesis_type_1B omim "600972".
- Achondrogenesis_type_1B subject Category:Congenital_disorders.
- Achondrogenesis_type_1B type Disease.
- Achondrogenesis_type_1B type Medicine.
- Achondrogenesis_type_1B type AilmentCondition.
- Achondrogenesis_type_1B type Thing.
- Achondrogenesis_type_1B type Q12136.
- Achondrogenesis_type_1B comment "Achondrogenesis, type 1B is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward. Affected infants frequently have a soft out-pouching around the belly-button (an umbilical hernia) or near the groin (an inguinal hernia).Achondrogenesis, type 1B is a rare genetic disorder; its incidence is unknown.".
- Achondrogenesis_type_1B label "Achondrogenesie Typ IB".
- Achondrogenesis_type_1B label "Achondrogenesis type 1B".
- Achondrogenesis_type_1B sameAs Achondrogenesie_Typ_IB.
- Achondrogenesis_type_1B sameAs m.05h5p88.
- Achondrogenesis_type_1B sameAs Q17010855.
- Achondrogenesis_type_1B sameAs Q17010855.
- Achondrogenesis_type_1B wasDerivedFrom Achondrogenesis_type_1B?oldid=565915971.
- Achondrogenesis_type_1B isPrimaryTopicOf Achondrogenesis_type_1B.
- Achondrogenesis_type_1B name "Achondrogenesis type 1B".