atelosteogenesis

Summary
Definition
An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
Super Class
osteochondrodysplasia spinal disease
Disease Ontology
DOID:0050648
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1836 SLC26A2 solute carrier family 26 member 2
2317 FLNB filamin B
Displaying all 2 entries
Gene ID Gene Symbol Description Source
13521 Slc26a2 solute carrier family 26 (sulfate transporter), member 2
286940 Flnb filamin, beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
117267 Slc26a2 solute carrier family 26 member 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P50443 Sulfate transporter
The Human Phenotype Ontology
Displaying entries 1 - 10 of 70 in total
HPO ID HPO Term
HP:0000175 Cleft palate
HP:0000219 Thin upper lip vermilion
HP:0000286 Epicanthus
HP:0000316 Hypertelorism
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000369 Low-set ears
HP:0000470 Short neck
HP:0000506 Telecanthus
HP:0000773 Short ribs
Displaying 1 entry
Gene ID Gene Symbol Description
1836 SLC26A2 solute carrier family 26 member 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024