Online Mendelian Inheritance in Man - FRONTOMETAPHYSEAL DYSPLASIA 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/305620 http://purl.bioontology.org/ontology/OMIM/305620
Preferred Name	FRONTOMETAPHYSEAL DYSPLASIA 1
Synonyms	FMD FMD1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FMD FMD1
prefLabel	FRONTOMETAPHYSEAL DYSPLASIA 1
Gene Symbol	CSBS FLNA OPD1 NHBP CVD1 FLN1 FGS2 FMD OPD2 MNS See more See less
Scope Statement	Melnick-Needles syndrome (MNS, 309350) is an allelic disorder [MISCELLANEOUS] Caused by mutation in the filamin A gene (FLNA, 300017.0011) [MOLECULAR BASIS] Periventricular heterotopia (300049) is an allelic disorder [MISCELLANEOUS] Otopalatodigital syndrome type II (OPD2, 304120) is an allelic disorder [MISCELLANEOUS] Variable expression in females Otopalatodigital syndrome type I (OPD1, 311300) is an allelic disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007618 http://purl.bioontology.org/ontology/OMIM/MTHU036368 http://purl.bioontology.org/ontology/OMIM/MTHU007635 http://purl.bioontology.org/ontology/OMIM/MTHU007619 http://purl.bioontology.org/ontology/OMIM/MTHU007611 http://purl.bioontology.org/ontology/OMIM/MTHU007617 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU007636 http://purl.bioontology.org/ontology/OMIM/MTHU007624 http://purl.bioontology.org/ontology/OMIM/MTHU042375 http://purl.bioontology.org/ontology/OMIM/MTHU006809 http://purl.bioontology.org/ontology/OMIM/MTHU007632 http://purl.bioontology.org/ontology/OMIM/MTHU007621 http://purl.bioontology.org/ontology/OMIM/MTHU020345 http://purl.bioontology.org/ontology/OMIM/MTHU006236 http://purl.bioontology.org/ontology/OMIM/MTHU001361 http://purl.bioontology.org/ontology/OMIM/MTHU007622 http://purl.bioontology.org/ontology/OMIM/MTHU007614 http://purl.bioontology.org/ontology/OMIM/MTHU007615 http://purl.bioontology.org/ontology/OMIM/MTHU007610 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU007627 http://purl.bioontology.org/ontology/OMIM/MTHU001511 http://purl.bioontology.org/ontology/OMIM/MTHU007613 http://purl.bioontology.org/ontology/OMIM/MTHU042376 http://purl.bioontology.org/ontology/OMIM/MTHU007626 http://purl.bioontology.org/ontology/OMIM/MTHU001151 http://purl.bioontology.org/ontology/OMIM/MTHU007616 http://purl.bioontology.org/ontology/OMIM/MTHU002089 http://purl.bioontology.org/ontology/OMIM/MTHU007623 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU006492 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU007628 http://purl.bioontology.org/ontology/OMIM/MTHU002202 http://purl.bioontology.org/ontology/OMIM/MTHU007631 http://purl.bioontology.org/ontology/OMIM/MTHU007630 http://purl.bioontology.org/ontology/OMIM/MTHU001468 http://purl.bioontology.org/ontology/OMIM/MTHU007629 http://purl.bioontology.org/ontology/OMIM/MTHU000260 http://purl.bioontology.org/ontology/OMIM/MTHU007625 http://purl.bioontology.org/ontology/OMIM/MTHU007612 http://purl.bioontology.org/ontology/OMIM/MTHU007620 http://purl.bioontology.org/ontology/OMIM/MTHU007637 See more See less
tui	T019
Gene Locus	Xq28
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	305620
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C4281559
OMIM Entry Type	3
OMIM MimType Value	pound

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