Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	metatropic dysplasia
Synonyms	metatropic dwarfism
Definitions	A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
ID	http://purl.obolibrary.org/obo/DOID_0111514
database_cross_reference	SNOMEDCT_US_2022_09_01:22764001 GARD:3571 UMLS_CUI:C0265281 MESH:C537356 NCI:C175209 ORDO:2635 OMIM:156530
definition	A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
has exact synonym	metatropic dwarfism
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111514
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	metatropic dysplasia
notation	DOID:0111514
prefLabel	metatropic dysplasia
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_0080027

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/156530	Online Mendelian Inheritance in Man	LOOM