achondrogenesis type IB

Summary
Synonym
  • achondrogenesis Fraccaro type
Definition
An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
Super Class
achondrogenesis autosomal recessive disease
External Links
Disease Ontology
DOID:0080055
Mondo Disease Ontology
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1634 DCN decorin
1836 SLC26A2 solute carrier family 26 member 2
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P07585 Decorin
P50443 Sulfate transporter
The Human Phenotype Ontology
Displaying entries 11 - 20 of 39 in total
HPO ID HPO Term
HP:0100541 Femoral hernia
HP:0001537 Umbilical hernia
HP:0003336 Abnormal enchondral ossification
HP:0000256 Macrocephaly
HP:0001561 Polyhydramnios
HP:0003498 Disproportionate short stature
HP:0000347 Micrognathia
HP:0010306 Short thorax
HP:0000476 Cystic hygroma
HP:0002007 Frontal bossing
Displaying 1 entry
Gene ID Gene Symbol Description
1836 SLC26A2 solute carrier family 26 member 2

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Last updated: August 19, 2024