Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/300049
http://purl.bioontology.org/ontology/OMIM/300049
Preferred Name

PERIVENTRICULAR NODULAR HETEROTOPIA 1
Synonyms
NHBP
BPNH
HETEROTOPIA, FAMILIAL NODULAR
PVNH4, FORMERLY
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT
PVNH1
PERIVENTRICULAR NODULAR HETEROTOPIA 4, FORMERLY
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA
NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NHBP
BPNH
HETEROTOPIA, FAMILIAL NODULAR
PVNH4, FORMERLY
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT
PVNH1
PERIVENTRICULAR NODULAR HETEROTOPIA 4, FORMERLY
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA
NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR
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prefLabel
PERIVENTRICULAR NODULAR HETEROTOPIA 1
Gene Symbol
CSBS
FLNA
OPD1
NHBP
CVD1
FLN1
FGS2
FMD
OPD2
MNS
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Scope Statement
Melnick-Needles syndrome (MNS, 309350) is an allelic disorder [MISCELLANEOUS]
Often confused with tuberous sclerosis (191000) [MISCELLANEOUS]
Otopalatodigital syndrome type I (OPD1, 311300) is an allelic disorder [MISCELLANEOUS]
Otopalatodigital syndrome type II (OPD2, 304120) is an allelic disorder [MISCELLANEOUS]
Prenatal or perinatal lethality in hemizygous males [MISCELLANEOUS]
Frontometaphyseal dysplasia (FMD, 305620) is an allelic disorder [MISCELLANEOUS]
Caused by mutation in the filamin A gene (FLNA, 300017.0001) [MOLECULAR BASIS]
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type
Has manifestation
tui
T047
T019
Gene Locus
Xq28
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
300049
Semantic type UMLS property
Has inheritance type
cui
C1848214
C4551969
C1845235
C1848213
Moved from
300537
142510
OMIM Entry Type
3
OMIM MimType Value
pound
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