loading...| 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 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/300049 |
|
| 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 |
|
| cui |
C1848214 C4551969 C1845235 C1848213 |
|
| Gene Locus |
Xq28 |
|
| Gene Symbol |
CSBS FLNA OPD1 NHBP CVD1 FLN1 FGS2 FMD OPD2 MNS |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU038015 http://purl.bioontology.org/ontology/OMIM/MTHU004733 http://purl.bioontology.org/ontology/OMIM/MTHU012852 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU008649 http://purl.bioontology.org/ontology/OMIM/MTHU008646 http://purl.bioontology.org/ontology/OMIM/MTHU008648 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU038016 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
300537 142510 |
|
| notation |
300049 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
PERIVENTRICULAR NODULAR HETEROTOPIA 1 |
|
| 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] |
|
| tui |
T047 T019 |