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loading...| Preferred Name |
apert syndrome |
|
| Synonyms |
Acrocephalosyndactyly |
|
| Definitions |
an autosomal dominant inherited disorder caused by mutation in the FGFR2 gene. As well as skeletal malformations phenotypes can include hyperhidrosis, oily skin with severe acne and patches of missing hair in the eyebrows. |
|
| ID |
http://purl.obolibrary.org/obo/DERMO_0000623 |
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| created_by |
Hannah |
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| creation_date |
2013-01-26T06:37:48Z |
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| database_cross_reference |
DERMLEX:3406 SNOMEDCT_US_2015_03_01:205258009 SNOMEDCT:268262006 OMIM:176943 DOID:12960 RID:17906 |
|
| definition |
an autosomal dominant inherited disorder caused by mutation in the FGFR2 gene. As well as skeletal malformations phenotypes can include hyperhidrosis, oily skin with severe acne and patches of missing hair in the eyebrows. |
|
| has symptom | ||
| has_exact_synonym |
Acrocephalosyndactyly |
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| has_obo_namespace |
DERMO |
|
| id |
DERMO:0000623 |
|
| label |
apert syndrome |
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| notation |
DERMO:0000623 |
|
| prefLabel |
apert syndrome |
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| treeView | ||
| subClassOf |
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