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: otopalatodigital syndrome spectrum disorder
Accession: DOID:0111782
browse the term
Definition: A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (DO)
Synonyms: exact_synonym: OPD spectrum disorder; OPSD; fronto-otopalatodigital osteodysplasia; otopalatodigital spectrum disorder
primary_id: MESH:C567577
xref: ORDO:364541
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Flna
filamin A
ISO
DNA:deletion:cds:c.4904_4912del (human) ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder
ClinVar RGD
PMID:15654694 PMID:16596676 PMID:15654694
RGD:11565126
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Sh3pxd2b
SH3 and PX domains 2B
ISO
ClinVar Annotator: match by term: BORRONE DERMATOCARDIOSKELETAL SYNDROME | ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 PMID:23140272 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 PMID:31931872 PMID:31978614 More...
NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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Flna
filamin A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Frontometaphyseal dysplasia
CTD ClinVar
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25326637 PMID:25649377 PMID:25741868 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30675029 PMID:30712057 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations: :multiple (human)
CTD RGD
PMID:27426733
RGD:11552867
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Flna
filamin A
ISO
ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 DNA:missense mutations, deletions:cds:multiple (human)
OMIM ClinVar RGD
PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 PMID:16417552 PMID:16596676 PMID:16822260 PMID:16835913 PMID:18414213 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30712057 PMID:30986657 PMID:35000503 PMID:16835913 More...
RGD:11063279
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2
OMIM ClinVar
PMID:25741868 PMID:25899317 PMID:27426733 PMID:28492532
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
OMIM ClinVar
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25326637 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29334594 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30675029 PMID:30712057 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
G
Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
G
Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
G
Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
G
Flna
filamin A
ISO
ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I DNA:missense mutation:cds:p.P207L (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:3265608 PMID:6019437 PMID:10982489 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15194946 PMID:15917206 PMID:15940695 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:17264970 PMID:18414213 PMID:20301567 PMID:20979190 PMID:22465605 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300383 PMID:30143558 PMID:30712057 PMID:30986657 PMID:31942422 PMID:35000503 PMID:12612583 More...
RGD:1598954
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Ofd1
Ofd1 centriole and centriolar satellite protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16783569
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II DNA:missense mutation:cds:p.E254K (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15378534 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25326637 PMID:25649377 PMID:25741868 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30675029 PMID:30712057 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 PMID:12612583 More...
RGD:1598954
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
G
Hcfc1
host cell factor C1
ISO
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
G
Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
G
Naa10
N(alpha)-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
G
Opn1mw
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
G
Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
G
Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
G
Tktl1
transketolase-like 1
ISO
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all