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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.
https://www.ncbi.nlm.nih.gov/pubmed/11152141
Xrefs

GARD:897

MESH:C537632

MIM:239800

ORDO:2213

SNOMEDCT_US_2023_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]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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