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Experimental Factor Ontology
| Preferred Name | hypochondroplasia | |
| Synonyms |
HCH hypochondroplasia |
|
| Definitions |
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007793 |
|
| closeMatch | ||
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007793 |
|
| database_cross_reference |
NANDO:2201010 MedDRA:10020967 UMLS:C0410529 SCTID:205468002 ICD10CM:Q77.4 OMIM:146000 icd11.foundation:1930265486 MESH:C562937 Orphanet:429 MEDGEN:98376 NCIT:C118697 DOID:0080041 GARD:6724 ICD9:756.9 NORD:1271
|
|
| definition |
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
|
|
| exactMatch |
http://identifiers.org/medgen/98376 http://identifiers.org/snomedct/205468002 http://identifiers.org/mesh/C562937 http://linkedlifedata.com/resource/umls/id/C0410529 http://purl.obolibrary.org/obo/NCIT_C118697 http://purl.obolibrary.org/obo/DOID_0080041 http://purl.obolibrary.org/obo/Orphanet_429 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1930265486 |
|
| has_exact_synonym |
hypochondroplasia
|
|
| has_related_synonym |
HCH
|
|
| IAO_0000233 | ||
| id |
MONDO:0007793
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
hypochondroplasia
|
|
| notation |
MONDO:0007793
|
|
| preferred label |
hypochondroplasia
|
|
| prefLabel |
hypochondroplasia
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia |
|
| subClassOf | ||
| excluded_subClassOf |
| Delete | Subject | Author | Type | Created |
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