loading...| Preferred Name | DOORS syndrome | |
| Synonyms |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) DOOR syndrome Autosomal recessive deafness onychodystrophy syndrome Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome |
|
| Definitions |
A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/719800009 |
|
| Active |
1 |
|
| altLabel |
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) DOOR syndrome Autosomal recessive deafness onychodystrophy syndrome Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUuYC |
|
| cui |
C0795934 |
|
| definition |
A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20170131 |
|
| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/91159003 http://purl.bioontology.org/ontology/SNOMEDCT/770802007 |
|
| Has interpretation | ||
| Has pathological process | ||
| interprets |
http://purl.bioontology.org/ontology/SNOMEDCT/406208005 |
|
| notation |
719800009 |
|
| Occurs in | ||
| prefLabel |
DOORS syndrome |
|
| Subset member |
6011000124106~MAPADVICE~ALWAYS Q78.9 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPTARGET~F78.A9 6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPTARGET~Q87.8 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000497000~MAPTARGET~XUuYC 6011000124106~MAPGROUP~4 447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS Q84.6 6011000124106~MAPGROUP~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~H90.5 6011000124106~MAPTARGET~Q84.6 6011000124106~MAPADVICE~ALWAYS H90.5 6011000124106~MAPTARGET~Q78.9 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/8447006 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/82354003 http://purl.bioontology.org/ontology/SNOMEDCT/773735007 |