Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5

Synonyms

MCOPCB5

ID

http://purl.bioontology.org/ontology/OMIM/611638

altLabel

MCOPCB5

cui

C1968843

Gene Locus

7q36

Gene Symbol

HLP3

MCOPCB5

SMMCI

HPE3

SHH

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036526

http://purl.bioontology.org/ontology/OMIM/MTHU030105

http://purl.bioontology.org/ontology/OMIM/MTHU003096

http://purl.bioontology.org/ontology/OMIM/MTHU019859

http://purl.bioontology.org/ontology/OMIM/MTHU019860

http://purl.bioontology.org/ontology/OMIM/MTHU002495

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

611638

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5

tui

T047

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http://purl.bioontology.org/ontology/MESH/C566899 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566899 Medical Subject Headings LOOM