Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
Jump to:
loading...
Preferred Name

Pseudoachondroplasia
Synonyms

PSACH
Definitions

(PSACH) - A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.
ID

http://identifiers.org/omim/177170
altLabel

PSACH
definition

(PSACH) - A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.
id

OMIM:177170
notation

OMIM:177170
prefLabel

Pseudoachondroplasia
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://identifiers.org/omim/177170 GEXO SAME_URI
http://identifiers.org/omim/177170 RETO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080047 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008322 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0080047 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0008322 MONDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0410538 OCHV LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2676 HRDO LOOM
http://identifiers.org/omim/177170 GEXO LOOM
http://identifiers.org/omim/177170 RETO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118635 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535819 RH-MESH LOOM
http://purl.jp/bio/4/id/200906090582243072 IOBC LOOM
http://purl.org/skeletome/bonedysplasia#Pseudoachondroplasia BDO LOOM
http://purl.obolibrary.org/obo/OMIM_177170 CCO LOOM
http://www.gamuts.net/entity#pseudoachondroplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/OMIM/177170 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0008322 DOVES LOOM
http://purl.bioontology.org/ontology/RCD/PG446 RCD LOOM
http://www.orpha.net/ORDO/Orphanet_750 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PG44600 RCTV2 LOOM
http://purl.obolibrary.org/obo/DOID_0080047 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080047 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080047 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080047 FNS-H LOOM
http://purl.bioontology.org/ontology/MESH/C535819 MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C118635 BERO LOOM