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Metadata
DOID DOID:14670
Name hypertelorism, microtia, facial clefting syndrome
Definition An autosomal recessive disease 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.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen_omim&from_uid=11152141, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213
Xrefs

MESH:C537632

OMIM:239800

PMID:11152141

SNOMEDCT_US_2018_03_01:721836009

UMLS_CUI:C0220742

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]

Relationships

is_a autosomal recessive disease

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