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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/304120
http://purl.bioontology.org/ontology/OMIM/304120
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|---|---|
| Preferred Name | OTOPALATODIGITAL SYNDROME, TYPE II |
| Synonyms |
OPD SYNDROME 2
FPO
OPD II SYNDROME
FACIOPALATOOSSEOUS SYNDROME
OPD2
CRANIOORODIGITAL SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OPD SYNDROME 2
FPO
OPD II SYNDROME
FACIOPALATOOSSEOUS SYNDROME
OPD2
CRANIOORODIGITAL SYNDROME
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|---|---|
| prefLabel | OTOPALATODIGITAL SYNDROME, TYPE II
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| Gene Symbol |
CSBS
FLNA
OPD1
NHBP
CVD1
FLN1
FGS2
FMD
OPD2
MNS
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| notation | 304120
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| Scope Statement | Melnick-Needles syndrome (MNS, 309350) is an allelic disorder [MISCELLANEOUS]
Otopalatodigital syndrome type I (OPD1, 311300) is an allelic disorder [MISCELLANEOUS]
Periventricular heterotopia (300049) is an allelic disorder [MISCELLANEOUS]
Majority of patients are stillborn or die before 5 months of age [MISCELLANEOUS]
Frontometaphyseal dysplasia (FMD, 305620) is an allelic disorder [MISCELLANEOUS]
Caused by mutation in the filamin A gene (FLNA, 300017.0010) [MOLECULAR BASIS]
Milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
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| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | Xq28
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| tui | T047
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| cui | C1844696
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