Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

HYPOCHONDROPLASIA
Synonyms

HCH
ID

http://purl.bioontology.org/ontology/OMIM/146000
altLabel

HCH
cui

C0410529
Gene Locus

4p16.3
Gene Symbol

FGFR3

ACH
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036874

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU017730

http://purl.bioontology.org/ontology/OMIM/MTHU053459

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU017721

http://purl.bioontology.org/ontology/OMIM/MTHU017727

http://purl.bioontology.org/ontology/OMIM/MTHU017725

http://purl.bioontology.org/ontology/OMIM/MTHU017723

http://purl.bioontology.org/ontology/OMIM/MTHU036875

http://purl.bioontology.org/ontology/OMIM/MTHU053458

http://purl.bioontology.org/ontology/OMIM/MTHU015874

http://purl.bioontology.org/ontology/OMIM/MTHU017724

http://purl.bioontology.org/ontology/OMIM/MTHU017722

http://purl.bioontology.org/ontology/OMIM/MTHU017726

http://purl.bioontology.org/ontology/OMIM/MTHU017728

http://purl.bioontology.org/ontology/OMIM/MTHU017732

http://purl.bioontology.org/ontology/OMIM/MTHU017720

http://purl.bioontology.org/ontology/OMIM/MTHU011573
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

146000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HYPOCHONDROPLASIA
tui

T019
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD11CN/LD24.01 International Classification of Diseases, 11th Edition, China LOOM
http://purl.obolibrary.org/obo/DOID_0080041 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118697 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C562937 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562937 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification CUI