Cell Culture Ontology - otopalatodigital syndrome type 2 - Classes | NCBO BioPortal

Cell Culture Ontology

Last uploaded: July 23, 2014

Id	http://purl.obolibrary.org/obo/MONDO_0010571 http://purl.obolibrary.org/obo/MONDO_0010571
Preferred Name	otopalatodigital syndrome type 2
Definitions	A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
Synonyms	otopalatodigital syndrome, type II Andre syndrome otopalatodigital syndrome, type 2 oto-palato-digital syndrome type 2 faciopalatoosseous syndrome cranioorodigital syndrome cranio-oro-digital syndrome FPO OPD2 OPD 2 syndrome OPD II syndrome otopalatodigital syndrome, type II, X-linked dominant OPD syndrome 2 Otopalatodigital Syndrome Type I and II See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
preferred label	otopalatodigital syndrome type 2
label	otopalatodigital syndrome type 2
prefLabel	otopalatodigital syndrome type 2
database_cross_reference	ICD9:759.89 MESH:C538089 UMLS:C1844696 icd11.foundation:1897308206 OMIM:304120 Orphanet:90652 DOID:0111784 MEDGEN:337064 SCTID:42432003 GARD:5802 NORD:1539 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948
notation	MONDO:0010571
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare 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 See more See less
has_related_synonym	otopalatodigital syndrome, type II Andre syndrome otopalatodigital syndrome, type 2 oto-palato-digital syndrome type 2 faciopalatoosseous syndrome cranioorodigital syndrome cranio-oro-digital syndrome FPO OPD2 See more See less
id	MONDO:0010571
skos_exactMatch	http://identifiers.org/mesh/C538089 http://identifiers.org/snomedct/42432003 https://omim.org/entry/304120 http://identifiers.org/medgen/337064 http://purl.obolibrary.org/obo/DOID_0111784 http://purl.obolibrary.org/obo/Orphanet_90652 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1897308206 http://linkedlifedata.com/resource/umls/id/C1844696 See more See less
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019027
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	OPD 2 syndrome OPD II syndrome otopalatodigital syndrome, type II, X-linked dominant OPD syndrome 2 Otopalatodigital Syndrome Type I and II

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