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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:osteosclerosis
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Accession:DOID:4254 term browser browse the term
Definition:A bone remodeling disease that results_in abnormal elevated bone density or mass. (DO)
Synonyms:exact_synonym: osteoscleroses
 primary_id: MESH:D010026
 xref: NCI:C41236
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
osteosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:11741829 PMID:14584882 PMID:16234969 PMID:17164308 PMID:19543743 More... NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:25741868 PMID:38173341 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:11719191 PMID:11741193 PMID:11793484 PMID:12015390 PMID:12579474 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:25741868 NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:22231430 PMID:24033266 PMID:25741868 PMID:26264438 PMID:28492532 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO ClinVar Annotator: match by term: Osteosclerosis ClinVar PMID:20499338 PMID:21541994 PMID:25741868 PMID:28492532 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17853455 PMID:21221996 PMID:25741868 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561 		JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 ClinVar PMID:25741868 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO
ISS		 ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
OMIM:166600		 OMIM
ClinVar
MouseDO		 PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
Autosomal Dominant Osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 OMIM
ClinVar		 PMID:17997709 PMID:25741868 NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412 		JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
autosomal recessive osteopetrosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc154 coiled-coil domain containing 154 ISS OMIM:259700 MouseDO NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253 		JBrowse link
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 ClinVar PMID:35342016 PMID:36195244 NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO
ISS		 DNA:deletions, snps:exons:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition
OMIM:259700
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More... RGD:1599350 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
autosomal recessive osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfsf11 TNF superfamily member 11 ISO
ISS		 OMIM:259710
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor		 OMIM
MouseDO
ClinVar		 PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 More... NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO
ISS		 ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
OMIM:259730
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
autosomal recessive osteopetrosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2
OMIM:611490
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
autosomal recessive osteopetrosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3
OMIM:259720
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 More... NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023 		JBrowse link
autosomal recessive osteopetrosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO
ISS		 OMIM:611497
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6		 OMIM
MouseDO
CTD
ClinVar		 PMID:17404618 PMID:25741868 NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
autosomal recessive osteopetrosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx10 sorting nexin 10 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8
OMIM:615085		 OMIM
ClinVar
MouseDO		 PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 More... NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996 		JBrowse link
Autosomal Recessive Osteopetrosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 OMIM
ClinVar		 PMID:25741868 PMID:34668226 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis OMIM
ClinVar		 PMID:8614507 PMID:22503135 PMID:23408870 PMID:24120500 PMID:24145216 More... NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Lemd3 LEM domain containing 3 no_association ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS
DNA:nonsense mutation:cds:c.2203C>T(human)
DNA:transversion mutation:intron: c.1921+1G>T(human)
DNA:nonsense mutations:cds:c.2564G>A,c.1963C>T(human)		 OMIM
CTD
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553844, RGD:11553843, RGD:11553842, RGD:11553840 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
Camurati-Engelmann disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia ClinVar PMID:25741868 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mitf melanocyte inducing transcription factor ISS OMIM:131300 | OMIM:606631 MouseDO NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 More... NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Craniometadiaphyseal osteosclerosis with hip dysplasia OMIM
ClinVar		 PMID:25741868 PMID:37582359 NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615 		JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISS OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
craniotubular dysplasia Ikegawa type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem53 transmembrane protein 53 ISO
ISS		 ClinVar Annotator: match by term: Craniotubular dysplasia, Ikegawa type | ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia
OMIM:619727		 ClinVar
MouseDO
OMIM		 PMID:25741868 PMID:33824347 NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692 		JBrowse link
Dysosteosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Dysosteosclerosis ClinVar PMID:25741868 PMID:28492532 PMID:33837634 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
Hyperostosis Cranialis Interna term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Hyperostosis cranialis interna OMIM
ClinVar		 PMID:2300107 PMID:25741868 PMID:28492532 PMID:29621230 NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
melorheostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: Melorheostosis		 OMIM
CTD
ClinVar		 PMID:7651428 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis ClinVar PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
osteopathia striata with cranial sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO
ISS		 ClinVar Annotator: match by term: AMER1-related condition | ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis
OMIM:300373
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8723089 PMID:9327263 PMID:9383023 PMID:19079258 PMID:20209645 More... NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 PMID:25741868 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 PMID:25741868 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Spin4 spindlin family, member 4 ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:59,888,728...59,892,817
Ensembl chr  X:59,891,581...59,892,330 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
G Zxda zinc finger, X-linked, duplicated A ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:59,760,871...59,766,010
Ensembl chr  X:59,763,210...59,765,903 		JBrowse link
G Zxdb zinc finger, X-linked, duplicated B ISO ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis ClinVar PMID:9383023 PMID:19079258 PMID:20209645 NCBI chr  X:59,700,765...59,706,737
Ensembl chr  X:59,701,178...59,703,871
Ensembl chr  X:59,701,178...59,703,871 		JBrowse link
osteopetrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 susceptibility ISO DNA:splice-site mutation RGD PMID:1301935 RGD:1600698 NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO RGD PMID:23580622 RGD:10401187 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11741829 PMID:14584882 PMID:15111300 PMID:16234969 PMID:17164308 More... RGD:737783 NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Csf1 colony stimulating factor 1 IAGP
ISS		 DNA:insertion:cds (rat) MouseDO
RGD		 PMID:12379742 RGD:628338 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Csf1tl colony stimulating factor 1; tooth less mutant IAGP RGD PMID:12379742 RGD:628338
G Ctsk cathepsin K ISO RGD PMID:10469835 RGD:734856 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18278053 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO RGD PMID:10655067 RGD:737712 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		JBrowse link
G Ghr growth hormone receptor IEP protein:decreased expression:osteoclast RGD PMID:14632687 RGD:2307374 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15314684 RGD:1549450 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: High bone mass ClinVar PMID:11741193 PMID:12015390 PMID:25741868 PMID:28492532 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISS MouseDO NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734 		JBrowse link
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511 		JBrowse link
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:25741868 NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023 		JBrowse link
G Snx10 sorting nexin 10 ISO ClinVar Annotator: match by term: Infantile osteopetrosis ClinVar PMID:25590979 PMID:25741868 PMID:27187610 PMID:28492532 NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:10888887 PMID:10942435 PMID:11532986 PMID:12552563 PMID:15300850 More... NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Osteopetrosis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteopetrosis		 CTD
ClinVar		 PMID:17632511 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
Osteopetrosis and Infantile Neuroaxonal Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Osteopetrosis and infantile neuroaxonal dystrophy ClinVar PMID:2668131 PMID:18414213 PMID:18443314 PMID:20301718 PMID:20619503 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
Osteopoikilosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Osteopoikilosis ClinVar PMID:15489854 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
osteosclerotic metaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia OMIM
ClinVar		 PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 More... NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734 		JBrowse link
Progressive Diaphyseal Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive ClinVar PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type ClinVar PMID:25741868 NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
Worth syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      bone development disease 2370
        osteochondrodysplasia 867
          osteosclerosis 59
            Axial Osteosclerosis 0
            Camurati-Engelmann disease + 3
            Craniofacial Dysostosis with Diaphyseal Hyperplasia 0
            Distal Osteosclerosis 0
            Dysosteosclerosis + 2
            Forney Robinson Pascoe Syndrome 1
            Hyperostosis Cranialis Interna 1
            Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions 0
            Mixed Sclerosing Bone Dystrophy 0
            Osteopoikilosis + 2
            Osteosclerosis with Ichthyosis and Fractures 0
            Pyknoachondrogenesis 0
            Raine Syndrome 1
            Whyte Murphy Syndrome 0
            Worth syndrome 1
            axial osteomalacia 0
            craniodiaphyseal dysplasia + 3
            craniometaphyseal dysplasia + 3
            hypomyelinating leukodystrophy 8 3
            melorheostosis + 2
            osteopathia striata with cranial sclerosis 9
            osteopetrosis + 29
            osteosclerotic metaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      musculoskeletal system disease 8477
        connective tissue disease 5949
          bone disease 4401
            bone development disease 2370
              osteochondrodysplasia 867
                osteosclerosis 59
                  Axial Osteosclerosis 0
                  Camurati-Engelmann disease + 3
                  Craniofacial Dysostosis with Diaphyseal Hyperplasia 0
                  Distal Osteosclerosis 0
                  Dysosteosclerosis + 2
                  Forney Robinson Pascoe Syndrome 1
                  Hyperostosis Cranialis Interna 1
                  Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions 0
                  Mixed Sclerosing Bone Dystrophy 0
                  Osteopoikilosis + 2
                  Osteosclerosis with Ichthyosis and Fractures 0
                  Pyknoachondrogenesis 0
                  Raine Syndrome 1
                  Whyte Murphy Syndrome 0
                  Worth syndrome 1
                  axial osteomalacia 0
                  craniodiaphyseal dysplasia + 3
                  craniometaphyseal dysplasia + 3
                  hypomyelinating leukodystrophy 8 3
                  melorheostosis + 2
                  osteopathia striata with cranial sclerosis 9
                  osteopetrosis + 29
                  osteosclerotic metaphyseal dysplasia 1
paths to the root