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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Decreased skull ossification
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Accession:HP:0004331 term browser browse the term
Definition:A reduction in the magnitude or amount of ossification of the skull.
Synonyms:exact_synonym: Decreased bone formation of skull;   Deficient skull ossification;   Ossification defect of skull;   Poorly mineralized skull;   Poorly ossified skull;   Poorly ossified skull bones;   hypoossification of skull
 related_synonym: Decreased calcification of skull;   Decreased mineralization of skull
 alt_id: HP:0003780
 xref: SNOMEDCT_US:253980008;   UMLS:C0432073;   UMLS:C4280533


show annotations for term's descendants           Sort by:
Decreased skull ossification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO OMIM:263210 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:52022 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO ORPHA:2067 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO OMIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:52022 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO OMIM:602361 ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP HPO OMIM:300863 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:215140 ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:3319 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO OMIM:610915 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G PHF21A PHD finger protein 21A IAGP HPO ORPHA:52022 NCBI chr11:45,929,319...46,121,454
Ensembl chr11:45,929,319...46,121,454 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP HPO ORPHA:50814 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO ORPHA:2963 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO OMIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO OMIM:244460 ORPHA:93324 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:3319 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TRIP11 thyroid hormone receptor interactor 11 IAGP HPO OMIM:200600 NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:1662 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Absent ossification of calvaria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:166210 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:166210 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
Decreased calvarial ossification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:241500 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Soft skullcap ClinVar
HPO		 PMID:8364588 PMID:25741868 OMIM:259420 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO OMIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO OMIM:616229 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO OMIM:610682 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP DNA:missense mutations:cds:p.M391R, p.Y381D HPO
RGD		 PMID:22387015 OMIM:614592 ORPHA:313855, RGD:12801468 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO OMIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO OMIM:617866 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO OMIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO OMIM:620076 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO OMIM:610915 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO OMIM:259440 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO OMIM:618265 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO OMIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO OMIM:619879 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO OMIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO OMIM:275210 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Decreased cranial base ossification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:151210 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21486
    Phenotypic abnormality 21476
      Abnormality of head or neck 3558
        Abnormality of the head 3529
          Abnormal skull morphology 2488
            Abnormality of skull ossification 47
              Decreased skull ossification 39
                Decreased calvarial ossification + 17
                Decreased cranial base ossification 1
Path 2
Term Annotations click to browse term
  Human phenotype 21486
    Phenotypic abnormality 21476
      Abnormality of the musculoskeletal system 4433
        Abnormality of the skeletal system 3608
          Abnormal skeletal morphology 3483
            Abnormal axial skeleton morphology 2806
              Abnormal skull morphology 2488
                Abnormality of skull ossification 47
                  Decreased skull ossification 39
                    Decreased calvarial ossification + 17
                    Decreased cranial base ossification 1
paths to the root