loading...| Preferred Name | Camptodactyly and tall stature with scoliosis and hearing loss syndrome | |
| Synonyms |
CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) |
|
| Definitions |
This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/720601000 |
|
| Active |
1 |
|
| altLabel |
CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUuCS |
|
| cui |
C1864852 |
|
| definition |
This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
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| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20170131 |
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| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/25723000 |
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| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/91159003 http://purl.bioontology.org/ontology/SNOMEDCT/7569003 |
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| Has pathological process | ||
| interprets | ||
| notation |
720601000 |
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| Occurs in | ||
| prefLabel |
Camptodactyly and tall stature with scoliosis and hearing loss syndrome |
|
| Subset member |
6011000124106~MAPADVICE~ALWAYS Q67.5 447562003~MAPRULE~TRUE 447562003~MAPTARGET~Q87.2 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~ALWAYS Q68.1 6011000124106~MAPTARGET~E34.4 900000000000508004~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~Q87.2 447562003~MAPGROUP~1 447562003~MAPADVICE~ALWAYS Q87.2 6011000124106~MAPADVICE~ALWAYS H91.90 | CONSIDER LATERALITY SPECIFICATION 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~H91.90 447562003~MAPPRIORITY~1 6011000124106~MAPTARGET~Q67.5 447562003~MAPCATEGORYID~447637006 6011000124106~MAPGROUP~5 6011000124106~MAPGROUP~4 6011000124106~MAPPRIORITY~1 900000000000497000~MAPTARGET~XUuCS 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q68.1 6011000124106~MAPADVICE~ALWAYS E34.4 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS Q87.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/29271008 http://purl.bioontology.org/ontology/SNOMEDCT/20948006 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/109420003 http://purl.bioontology.org/ontology/SNOMEDCT/232333009 http://purl.bioontology.org/ontology/SNOMEDCT/309463003 http://purl.bioontology.org/ontology/SNOMEDCT/363212003 http://purl.bioontology.org/ontology/SNOMEDCT/1899006 http://purl.bioontology.org/ontology/SNOMEDCT/299055007 http://purl.bioontology.org/ontology/SNOMEDCT/41443008 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C537975 | MESH | CUI | |
| http://purl.bioontology.org/ontology/OMIM/134934 | OMIM | CUI | |
| http://purl.bioontology.org/ontology/OMIM/610474 | OMIM | CUI | |
| http://purl.bioontology.org/ontology/SCTSPA/720601000 | SCTSPA | CUI |