Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Hypochondroplasia

Synonyms

HCH

Definitions

(HCH) - Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

ID

http://identifiers.org/omim/146000

altLabel

HCH

definition

(HCH) - Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.

id

OMIM:146000

notation

OMIM:146000

prefLabel

Hypochondroplasia

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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http://identifiers.org/omim/146000 REXO SAME_URI
http://identifiers.org/omim/146000 GEXO SAME_URI
http://www.gamuts.net/entity#hypochondroplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41000 RCTV2 LOOM
http://purl.jp/bio/4/id/200906074978999972 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118697 NCIT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10020967 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/PG410 RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/205468002 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/C562937 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_429 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562937 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#Hypochondroplasia BDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007793 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_14714 CLO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0410529 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C118697 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_146000 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0080041 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0080041 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080041 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080041 FNS-H LOOM
http://identifiers.org/omim/146000 REXO LOOM
http://identifiers.org/omim/146000 GEXO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_161 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/146000 OMIM LOOM