Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613480 http://purl.bioontology.org/ontology/OMIM/613480
Preferred Name	LYMPHATIC MALFORMATION 3
Synonyms	LMPHM3 LMPH1C, FORMERLY LYMPHEDEMA, HEREDITARY, IC, FORMERLY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LMPHM3 LMPH1C, FORMERLY LYMPHEDEMA, HEREDITARY, IC, FORMERLY
prefLabel	LYMPHATIC MALFORMATION 3
Gene Symbol	SPG44 HLD2 PMLDAR GJC2 GJA12 LMPHM3 CX47 See more See less
Scope Statement	Onset in first or second decades [MISCELLANEOUS] Caused by mutation in the Gap junction protein, gamma-2 gene (GJC2, 608803.0009) [MOLECULAR BASIS] Reduced penetrance [MISCELLANEOUS] Females tend to have earlier onset [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU069056 http://purl.bioontology.org/ontology/OMIM/MTHU034279 http://purl.bioontology.org/ontology/OMIM/MTHU000084 http://purl.bioontology.org/ontology/OMIM/MTHU034281
tui	T047
Gene Locus	1q42.13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613480
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4747646
OMIM Entry Type	3
OMIM MimType Value	pound

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