Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

MICROPHTHALMIA, SYNDROMIC 6
Synonyms

ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITAL ANOMALIES, AND ABNORMAL EXTERNAL GENITALIA

MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES

MCOPS6

MICROPHTHALMIA AND PITUITARY ANOMALIES
ID

http://purl.bioontology.org/ontology/OMIM/607932
altLabel

ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITAL ANOMALIES, AND ABNORMAL EXTERNAL GENITALIA

MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES

MCOPS6

MICROPHTHALMIA AND PITUITARY ANOMALIES
cui

C1864689
Gene Locus

14q22.2
Gene Symbol

OFC11

MCOPS6

BMP2B

BMP2B1

BMP4
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022181

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU022176

http://purl.bioontology.org/ontology/OMIM/MTHU022177

http://purl.bioontology.org/ontology/OMIM/MTHU008737

http://purl.bioontology.org/ontology/OMIM/MTHU001174

http://purl.bioontology.org/ontology/OMIM/MTHU001452

http://purl.bioontology.org/ontology/OMIM/MTHU022186

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU022179

http://purl.bioontology.org/ontology/OMIM/MTHU011808

http://purl.bioontology.org/ontology/OMIM/MTHU003365

http://purl.bioontology.org/ontology/OMIM/MTHU022175

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036880

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU019488

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU037442

http://purl.bioontology.org/ontology/OMIM/MTHU022184

http://purl.bioontology.org/ontology/OMIM/MTHU007130

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU002761

http://purl.bioontology.org/ontology/OMIM/MTHU003702

http://purl.bioontology.org/ontology/OMIM/MTHU022182

http://purl.bioontology.org/ontology/OMIM/MTHU022183

http://purl.bioontology.org/ontology/OMIM/MTHU022173

http://purl.bioontology.org/ontology/OMIM/MTHU000574

http://purl.bioontology.org/ontology/OMIM/MTHU022178

http://purl.bioontology.org/ontology/OMIM/MTHU022185

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU003214

http://purl.bioontology.org/ontology/OMIM/MTHU008543

http://purl.bioontology.org/ontology/OMIM/MTHU021848

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU003772

http://purl.bioontology.org/ontology/OMIM/MTHU002221

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU022174

http://purl.bioontology.org/ontology/OMIM/MTHU005767

http://purl.bioontology.org/ontology/OMIM/MTHU022172

http://purl.bioontology.org/ontology/OMIM/MTHU022180

http://purl.bioontology.org/ontology/OMIM/MTHU005282
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

610126
notation

607932
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MICROPHTHALMIA, SYNDROMIC 6
Scope Statement

Caused by mutation in the bone morphogenetic protein 4 (BMP4, 112262.0001) [MOLECULAR BASIS]
tui

T047
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