loading...| Preferred Name |
CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME |
|
| Synonyms |
CATSHL SYNDROME CATSHLS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/610474 |
|
| altLabel |
CATSHL SYNDROME CATSHLS |
|
| cui |
C1864852 |
|
| Gene Locus |
4p16.3 |
|
| Gene Symbol |
ACH FGFR3 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000186 http://purl.bioontology.org/ontology/OMIM/MTHU000191 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000187 http://purl.bioontology.org/ontology/OMIM/MTHU000188 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU001151 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU038092 http://purl.bioontology.org/ontology/OMIM/MTHU000189 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
610474 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME |
|
| Scope Statement |
One family with autosomal dominant inheritance has been reported and 1 family with autosomal recessive inheritance has been reported (last curated October 2014) [MISCELLANEOUS] CATSHL is an acronym for Camptodactyly, Tall Stature, Scoliosis, and Hearing Loss [MISCELLANEOUS] Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0029) [MOLECULAR BASIS] |
|
| tui |
T047 |