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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/311300
http://purl.bioontology.org/ontology/OMIM/311300
|
|---|---|
| Preferred Name | OTOPALATODIGITAL SYNDROME, TYPE I |
| Synonyms |
OPD I SYNDROME
OPD1
FRONTOOTOPALATODIGITAL OSTEODYSPLASIA
OPD SYNDROME 1
OTOPALATODIGITAL SPECTRUM DISORDER
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OPD I SYNDROME
OPD1
FRONTOOTOPALATODIGITAL OSTEODYSPLASIA
OPD SYNDROME 1
OTOPALATODIGITAL SPECTRUM DISORDER
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|---|---|
| prefLabel |
OTOPALATODIGITAL SYNDROME, TYPE I
|
| Gene Symbol |
CSBS
FLNA
OPD1
NHBP
CVD1
FLN1
FGS2
FMD
OPD2
MNS
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|
| notation |
311300
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| Scope Statement |
Caused by mutation in the filamin A gene (300017.0009) [MOLECULAR BASIS]
Melnick-Needles syndrome (MNS, 309350) is an allelic disorder [MISCELLANEOUS]
Periventricular heterotopia (300049) is an allelic disorder [MISCELLANEOUS]
Otopalatodigital syndrome type II (OPD2, 304120) is an allelic disorder with a more severe, frequently lethal phenotype [MISCELLANEOUS]
Frontometaphyseal dysplasia (FMD, 305620) is an allelic disorder [MISCELLANEOUS]
Complete manifestation in males [MISCELLANEOUS]
Intermediate expression in females [MISCELLANEOUS]
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| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| 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 |
C2748918
C2748919
C0265251
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