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osteogenesis imperfecta type 2 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:osteogenesis imperfecta type 2
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Accession:DOID:0110341 term browser browse the term
Definition:An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Synonyms:exact_synonym: OI type 2;   OI type II;   OI2;   OIC;   Osteogenesis Imperfecta, Type 2A;   Vrolik disease;   Vrolik type of osteogenesis imperfecta;   osteogenesis imperfecta congenita;   osteogenesis imperfecta congenita, perinatal lethal form;   osteogenesis imperfecta type 2, thin-bone;   osteogenesis imperfecta, type II;   osteogenesis imperfecta, type IIA;   perinatal lethal osteogenesis imperfecta congenita
 narrow_synonym: OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL
 primary_id: MESH:C536042
 alt_id: MIM:166210
 xref: GARD:10142;   NCI:C99001;   ORDO:216804

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osteogenesis imperfecta type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G P COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G S Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G D COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G B COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G C Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G R Col1a1 collagen type I alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
OMIM:166210
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G M Col1a1 collagen, type I, alpha 1 ISO
IAGP		 ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
CTD Direct Evidence: marker/mechanism
OMIM:166210		 OMIM
ClinVar
CTD
MouseDO		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G H COL1A1 collagen type I alpha 1 chain IAGP
ISS
EXP		 ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
OMIM:166210
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OI, TYPE II
ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone		 ClinVar
MouseDO
CTD
OMIM		 PMID:1511982 PMID:1613761 PMID:1634225 PMID:1770532 PMID:1864604 More... NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G N Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chrNW_004624813:1,174,071...1,209,929
Ensembl chrNW_004624813:1,174,224...1,209,616 		JBrowse link
G G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr21:54,602,780...54,639,832
Ensembl chr21:54,602,398...54,632,780 		JBrowse link
G P COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G S Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chrNW_004936585:5,650,322...5,686,393
Ensembl chrNW_004936585:5,651,180...5,685,923 		JBrowse link
G D COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527 		JBrowse link
G B COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803 		JBrowse link
G C Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chrNW_004955432:11,127,961...11,164,145
Ensembl chrNW_004955432:11,128,112...11,163,302 		JBrowse link
G R Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G M Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G H COL1A2 collagen type I alpha 2 chain IAGP
EXP		 ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OI, TYPE II		 ClinVar
CTD
OMIM		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G H LOC126862586 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 IAGP ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis imperfecta type 2
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II		 ClinVar PMID:7695699 PMID:7942841 PMID:8218237 PMID:8613526 PMID:9016532 More... NCBI chr17:50,196,341...50,197,540 JBrowse link
G N Smpd3 sphingomyelin phosphodiesterase 3 ISO OMIM:166210 MouseDO NCBI chrNW_004624746:17,857,779...17,948,469
Ensembl chrNW_004624746:17,920,835...17,948,468 		JBrowse link
G G SMPD3 sphingomyelin phosphodiesterase 3 ISO OMIM:166210 MouseDO NCBI chr 5:58,965,965...59,057,823
Ensembl chr 5:59,029,093...59,059,577 		JBrowse link
G P SMPD3 sphingomyelin phosphodiesterase 3 ISO OMIM:166210 MouseDO NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357 		JBrowse link
G S Smpd3 sphingomyelin phosphodiesterase 3 ISO OMIM:166210 MouseDO NCBI chrNW_004936475:18,667,563...18,755,132
Ensembl chrNW_004936475:18,671,428...18,755,208 		JBrowse link
G D SMPD3 sphingomyelin phosphodiesterase 3 ISO OMIM:166210 MouseDO NCBI chr 5:81,089,657...81,172,173
Ensembl chr 5:81,142,888...81,172,189 		JBrowse link
G B SMPD3 sphingomyelin phosphodiesterase 3 ISO OMIM:166210 MouseDO NCBI chr16:48,734,664...48,825,241
Ensembl chr16:68,131,905...68,142,871 		JBrowse link
G C Smpd3 sphingomyelin phosphodiesterase 3 ISO OMIM:166210 MouseDO NCBI chrNW_004955484:8,207,686...8,298,164
Ensembl chrNW_004955484:8,272,572...8,298,144 		JBrowse link
G R Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:166210 MouseDO NCBI chr19:51,072,209...51,155,639
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G M Smpd3 sphingomyelin phosphodiesterase 3, neutral IAGP OMIM:166210 MouseDO NCBI chr 8:106,979,180...107,064,597
Ensembl chr 8:106,979,180...107,064,620 		JBrowse link
G H SMPD3 sphingomyelin phosphodiesterase 3 ISS OMIM:166210 MouseDO NCBI chr16:68,358,327...68,448,508
Ensembl chr16:68,358,327...68,448,508 		JBrowse link
osteogenesis imperfecta type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G P COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G S Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G D COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G B COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G C Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G R Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G M Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G H COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      bone development disease 24312
        osteochondrodysplasia 9137
          osteogenesis imperfecta 638
            osteogenesis imperfecta type 2 31
              osteogenesis imperfecta type 2C 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        connective tissue disease 68438
          bone disease 49930
            bone development disease 24312
              osteochondrodysplasia 9137
                osteogenesis imperfecta 638
                  osteogenesis imperfecta type 2 31
                    osteogenesis imperfecta type 2C 10
paths to the root