Online Mendelian Inheritance in Man - TERMINAL OSSEOUS DYSPLASIA - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	TERMINAL OSSEOUS DYSPLASIA
Synonyms	ODPF
ID	http://purl.bioontology.org/ontology/OMIM/300244
altLabel	ODPF TOD ODPF SYNDROME TODPD ODPD TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA
cui	C1846129
Gene Locus	Xq28
Gene Symbol	FLN1 FLNA MNS CVD1 CSBS OPD2 NHBP FMD OPD1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036526 http://purl.bioontology.org/ontology/OMIM/MTHU058524 http://purl.bioontology.org/ontology/OMIM/MTHU058528 http://purl.bioontology.org/ontology/OMIM/MTHU058526 http://purl.bioontology.org/ontology/OMIM/MTHU033127 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU050745 http://purl.bioontology.org/ontology/OMIM/MTHU058532 http://purl.bioontology.org/ontology/OMIM/MTHU058530 http://purl.bioontology.org/ontology/OMIM/MTHU015820 http://purl.bioontology.org/ontology/OMIM/MTHU034340 http://purl.bioontology.org/ontology/OMIM/MTHU058529 http://purl.bioontology.org/ontology/OMIM/MTHU058527 http://purl.bioontology.org/ontology/OMIM/MTHU058525 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU014978 http://purl.bioontology.org/ontology/OMIM/MTHU058531 http://purl.bioontology.org/ontology/OMIM/MTHU058523 http://purl.bioontology.org/ontology/OMIM/MTHU000189
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300244
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	TERMINAL OSSEOUS DYSPLASIA
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564554	Medical Subject Headings	CUI
	http://purl.obolibrary.org/obo/DOID_0112149	Human Disease Ontology 123	LOOM