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: Congenital Bone Marrow Failure Syndromes
Accession: DOID:9004906
browse the term
Definition: Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation. (MESH)
Synonyms: exact_synonym: CBMFS; IBMFS; Inherited BMF Syndromes; Inherited Bone Marrow Failure Syndromes; inherited bone marrow failure syndrome
primary_id: MESH:D000080984
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Dnajc21
DnaJ heat shock protein family (Hsp40) member C21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inherited bone marrow failure syndrome
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29146883 More...
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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Ercc6l2
ERCC excision repair 6 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
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Srp72
signal recognition particle 72
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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Dut
deoxyuridine triphosphatase
ISO
ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome
OMIM ClinVar
PMID:9548420 PMID:25741868 PMID:28073829 PMID:35611808 PMID:35931051
NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
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Srp72
signal recognition particle 72
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532
NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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Ercc6l2
ERCC excision repair 6 like 2
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 2 | ClinVar Annotator: match by term: ERCC6L2-related condition
OMIM ClinVar
PMID:24507776 PMID:25741868 PMID:27185855 PMID:28492532 PMID:29146883 PMID:29987015 PMID:37149759 More...
NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
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Dnajc21
DnaJ heat shock protein family (Hsp40) member C21
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 3 | ClinVar Annotator: match by term: DNAJC21-related condition
OMIM ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29146883 PMID:29700810 More...
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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Mysm1
myb-like, SWIRM and MPN domains 1
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 4 | ClinVar Annotator: match by term: MYSM1-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22184403 PMID:24288411 PMID:25741868 PMID:26220525 PMID:28115216 PMID:28492532 More...
NCBI chr 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 5
ClinVar OMIM
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1975675 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8550239 PMID:8633021 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9891044 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11370630 PMID:11403041 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15355915 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16437140 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16818505 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:19101993 PMID:19127115 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19881536 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21113594 PMID:21118481 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 PMID:24122735 PMID:24381225 PMID:24487413 PMID:24573247 PMID:24641375 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24835218 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25404506 PMID:25584008 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26911350 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28664506 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29300620 PMID:29489754 PMID:29979965 PMID:30146126 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30816478 PMID:31321604 PMID:31775759 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34088725 PMID:34503094 PMID:34529667 PMID:34709361 PMID:35043155 PMID:35802772 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Mdm4
MDM4 regulator of p53
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 6
OMIM ClinVar
PMID:25741868 PMID:32300648
NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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Dnajc21
DnaJ heat shock protein family (Hsp40) member C21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29146883 More...
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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Sbds
Sbds, ribosome maturation factor
susceptibility
ISO ISS
DNA:mutations:multiple ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 OMIM:260400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22491737 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26479198 PMID:26822237 PMID:27290639 PMID:27418648 PMID:28102861 PMID:28509441 PMID:31321910 PMID:31589614 PMID:32150944 PMID:32581362 PMID:33607811 PMID:34308104 PMID:34758064 PMID:36835434 PMID:12496757 More...
RGD:1599541
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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Serpini2
serpin family I member 2
ISS
OMIM:260400
MouseDO
NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280
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Srp19
signal recognition particle 19
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar
NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017
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Srp54a
signal recognition particle 54A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
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Srpra
SRP receptor subunit alpha
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar
NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
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