Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	rhizomelic chondrodysplasia punctata type 3
Synonyms	Rcdp3
Definitions	A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.
ID	http://purl.obolibrary.org/obo/DOID_0110853
database_cross_reference	OMIM:600121 MESH:C537608 ICD10CM:Q77.3 ORDO:309803
definition	A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.
has exact synonym	Rcdp3 Agps Deficiency Alkylglycerone-Phosphate Synthase Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency
has_obo_namespace	disease_ontology
id	DOID:0110853
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	rhizomelic chondrodysplasia punctata type 3
notation	DOID:0110853
prefLabel	rhizomelic chondrodysplasia punctata type 3
subClassOf	http://purl.obolibrary.org/obo/DOID_2580

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/600121	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C537608	Medical Subject Headings	LOOM