Metadata | |
---|---|
ID | DOID:14670 |
Name | hypertelorism, microtia, facial clefting syndrome |
Definition | A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. http://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213, https://www.ncbi.nlm.nih.gov/pubmed/11152141 |
Xrefs |
SNOMEDCT_US_2023_03_01:721836009 |
Subsets |
DO_rare_slim |
Synonyms |
Bixler Christian Gorlin syndrome [EXACT] Bixler syndrome [EXACT] Bixler-Christian-Gorlin syndrome [EXACT] HMC syndrome [EXACT] Hypertelorism-Microtia-Clefting Syndrome [EXACT] Hypertelorism-microtia-facial clefting syndrome [EXACT] |
Parent Relationships |
is_a syndrome |