Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	terminal osseous dysplasia
Synonyms	TOD terminal osseous dysplasia-pigmentary defects syndrome digital osseous dysplasia with facial pigmentary defects and multiple frenula TODPD ODPD ODPF syndrome
Definitions	A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.
ID	http://purl.obolibrary.org/obo/DOID_0112149
database_cross_reference	MESH:C564554 ORDO:88630 OMIM:300244 UMLS_CUI:C1846129
definition	A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.
has exact synonym	TOD terminal osseous dysplasia-pigmentary defects syndrome digital osseous dysplasia with facial pigmentary defects and multiple frenula TODPD ODPD ODPF syndrome
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0112149
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	terminal osseous dysplasia
notation	DOID:0112149
prefLabel	terminal osseous dysplasia
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050736

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/300244	Online Mendelian Inheritance in Man	LOOM