Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Abnormal germ cell morphology
go back to main search page
Accession:HP:0012862 term browser browse the term
Definition:Any structural anomaly of a reproductive cell.
Synonyms:exact_synonym: Abnormal shape of a reproductive cell;   Abnormally shaped germ cell;   Abnormally shaped reproductive cell
 xref: UMLS:C4022704



show annotations for term's descendants           Sort by:
Abnormal male germ cell morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NANOS1 nanos C2HC-type zinc finger 1 IAGP HPO MIM:615413 NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730
JBrowse link
Abnormal sperm axoneme morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO MIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,369,962
JBrowse link
Abnormal sperm head morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL7A actin like 7A IAGP HPO MIM:620499 NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756
JBrowse link
G ARMC2 armadillo repeat containing 2 IAGP HPO MIM:618433 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476
JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO MIM:611102 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118
JBrowse link
G CYLC1 cylicin 1 IAGP HPO MIM:301119 NCBI chr  X:83,861,146...83,886,698
Ensembl chr  X:83,861,126...83,886,699
JBrowse link
G FBXO43 F-box protein 43 IAGP HPO MIM:619696 NCBI chr 8:100,133,351...100,150,569
Ensembl chr 8:100,133,351...100,145,817
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO ORPHA:320391 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G STRC stereocilin IAGP HPO MIM:611102 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800
JBrowse link
Abnormal sperm mid-piece morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNHD1 dynein heavy chain domain 1 IAGP HPO MIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758
JBrowse link
G PMFBP1 polyamine modulated factor 1 binding protein 1 IAGP HPO ORPHA:529970 NCBI chr16:72,116,657...72,249,949
Ensembl chr16:72,112,157...72,176,878
JBrowse link
G SUN5 Sad1 and UNC84 domain containing 5 IAGP HPO ORPHA:529970 NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433
JBrowse link
Abnormal sperm morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:12167408 PMID:25741868 PMID:31969357 NCBI chr  X:50,190,777...50,201,007
Ensembl chr  X:50,190,777...50,201,007
JBrowse link
G ARMC2 armadillo repeat containing 2 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:30686508 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476
JBrowse link
G CDC14A cell division cycle 14A IAGP HPO MIM:608653 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,325,629...100,520,277
JBrowse link
G CDK16 cyclin dependent kinase 16 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:22184064 PMID:25741868 NCBI chr  X:47,218,303...47,229,997
Ensembl chr  X:47,217,860...47,229,997
JBrowse link
G CFAP43 cilia and flagella associated protein 43 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:28552195 PMID:29449551 PMID:31004071 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364
JBrowse link
G CUL4B cullin 4B IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:26832838 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:15838840 PMID:25741868 PMID:30734403 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:34237282 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720
JBrowse link
G EFCAB6 EF-hand calcium binding domain 6 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 NCBI chr22:43,528,778...43,812,305
Ensembl chr22:43,528,744...43,812,337
JBrowse link
G FAM83F family with sequence similarity 83 member F IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 NCBI chr22:39,994,954...40,043,534
Ensembl chr22:39,994,954...40,043,534
JBrowse link
G FSHB follicle stimulating hormone subunit beta IAGP HPO ORPHA:52901 NCBI chr11:30,231,014...30,235,194
Ensembl chr11:30,231,014...30,235,261
JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:34125190 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290
JBrowse link
G FSIP2-AS1 FSIP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:34125190 NCBI chr 2:185,783,691...185,800,151
Ensembl chr 2:185,653,303...185,864,985
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO ORPHA:320391 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G GTF2H1 general transcription factor IIH subunit 1 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 NCBI chr11:18,322,567...18,367,045
Ensembl chr11:18,322,295...18,367,045
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:30089752 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
JBrowse link
G KLHL10 kelch like family member 10 IAGP HPO MIM:615081 NCBI chr17:41,835,685...41,848,384
Ensembl chr17:41,835,685...41,848,384
JBrowse link
G LOC126861342 MED14-independent group 3 enhancer GRCh37_chr11:113214693-113215892 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:37325566 NCBI chr11:113,343,971...113,345,170 JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
JBrowse link
G PMFBP1 polyamine modulated factor 1 binding protein 1 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:30032984 PMID:30298696 NCBI chr16:72,116,657...72,249,949
Ensembl chr16:72,112,157...72,176,878
JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO MIM:618420 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
JBrowse link
G SEPTIN12 septin 12 IAGP HPO MIM:614822 NCBI chr16:4,777,606...4,791,828
Ensembl chr16:4,777,606...4,788,398
JBrowse link
G SPRTN SprT-like N-terminal domain IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:37325566 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
JBrowse link
G TTC21A tetratricopeptide repeat domain 21A IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:30929735 NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:23558686 PMID:25741868 PMID:28492532 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079
JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP ClinVar Annotator: match by term: Abnormal sperm morphology ClinVar PMID:25741868 PMID:30561524 PMID:31551464 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109
JBrowse link
Abnormal sperm tail morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC2 armadillo repeat containing 2 IAGP ClinVar Annotator: match by term: Sperm tail anomaly ClinVar PMID:30686508 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476
JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP HPO MIM:611102 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118
JBrowse link
G CFAP206 cilia and flagella associated protein 206 IAGP ClinVar Annotator: match by term: Sperm tail anomaly ClinVar PMID:24360805 NCBI chr 6:87,407,972...87,464,465
Ensembl chr 6:87,407,972...87,464,465
JBrowse link
G STRC stereocilin IAGP HPO MIM:611102 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800
JBrowse link
Absent sperm axoneme central pair complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK7 adenylate kinase 7 IAGP HPO MIM:617965 NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427
JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO MIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102
JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP HPO MIM:618153 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290
JBrowse link
G QRICH2 glutamine rich 2 IAGP HPO MIM:618341 NCBI chr17:76,274,049...76,310,964
Ensembl chr17:76,274,049...76,308,276
JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO MIM:618751 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO MIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:619867 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Absent sperm flagella term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK7 adenylate kinase 7 IAGP HPO MIM:617965 NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427
JBrowse link
G AKAP3 A-kinase anchoring protein 3 IAGP HPO MIM:620353 NCBI chr12:4,615,518...4,649,051
Ensembl chr12:4,615,508...4,649,051
JBrowse link
G ARMC2 armadillo repeat containing 2 IAGP HPO MIM:618433 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476
JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP HPO MIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559
JBrowse link
G CCDC146 coiled-coil domain containing 146 IAGP HPO MIM:620850 NCBI chr 7:77,122,615...77,295,204
Ensembl chr 7:77,122,434...77,329,533
JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO MIM:620084 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234
JBrowse link
G CFAP251 cilia and flagella associated protein 251 IAGP HPO MIM:618152 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927
JBrowse link
G CFAP43 cilia and flagella associated protein 43 IAGP HPO MIM:617592 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364
JBrowse link
G CFAP44 cilia and flagella associated protein 44 IAGP HPO MIM:617593 NCBI chr 3:113,286,930...113,441,514
Ensembl chr 3:113,286,930...113,441,610
JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP HPO MIM:301059 NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317
JBrowse link
G CFAP58 cilia and flagella associated protein 58 IAGP HPO MIM:619144 NCBI chr10:104,338,520...104,455,102
Ensembl chr10:104,353,833...104,455,102
JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO MIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703
JBrowse link
G CFAP65 cilia and flagella associated protein 65 IAGP HPO MIM:618664 NCBI chr 2:219,002,846...219,041,551
Ensembl chr 2:219,002,846...219,041,527
JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO MIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO MIM:617576 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO MIM:619515 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720
JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP HPO MIM:618643 NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP HPO MIM:619094 NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742
JBrowse link
G DNAH8 dynein axonemal heavy chain 8 IAGP HPO MIM:619095 NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792
JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO MIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO MIM:620222 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 IAGP HPO MIM:619102 NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706
JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP HPO MIM:618153 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290
JBrowse link
G LRRC23 leucine rich repeat containing 23 IAGP HPO MIM:620848 NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241
JBrowse link
G QRICH2 glutamine rich 2 IAGP HPO MIM:618341 NCBI chr17:76,274,049...76,310,964
Ensembl chr17:76,274,049...76,308,276
JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO MIM:618751 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G SSX1 SSX family member 1 IAGP HPO MIM:301099 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444
JBrowse link
G STK33 serine/threonine kinase 33 IAGP HPO MIM:620849 NCBI chr11:8,334,824...8,594,228
Ensembl chr11:8,391,868...8,594,289
JBrowse link
G TTC21A tetratricopeptide repeat domain 21A IAGP HPO MIM:618429 NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903
JBrowse link
G TTC29 tetratricopeptide repeat domain 29 IAGP HPO MIM:618745 NCBI chr 4:146,706,617...146,945,864
Ensembl chr 4:146,706,617...146,945,882
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:619867 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Acephalic spermatozoa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL7A actin like 7A IAGP HPO MIM:620499 NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756
JBrowse link
G BRDT bromodomain testis associated IAGP HPO MIM:617644 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426
JBrowse link
G CEP112 centrosomal protein 112 IAGP HPO MIM:619044 NCBI chr17:65,635,537...66,192,133
Ensembl chr17:65,635,537...66,192,133
JBrowse link
G PMFBP1 polyamine modulated factor 1 binding protein 1 IAGP HPO MIM:618112 ORPHA:529970 NCBI chr16:72,116,657...72,249,949
Ensembl chr16:72,112,157...72,176,878
JBrowse link
G SPACA1 sperm acrosome associated 1 IAGP HPO MIM:620490 NCBI chr 6:88,046,901...88,066,838
Ensembl chr 6:88,047,841...88,066,838
JBrowse link
G SUN5 Sad1 and UNC84 domain containing 5 IAGP HPO MIM:617187 ORPHA:529970 NCBI chr20:32,983,775...33,004,433
Ensembl chr20:32,983,773...33,004,433
JBrowse link
G TSGA10 testis specific 10 IAGP HPO MIM:617961 NCBI chr 2:98,997,261...99,154,966
Ensembl chr 2:98,997,261...99,154,964
JBrowse link
Acrosomal hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL7A actin like 7A IAGP HPO MIM:620499 NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756
JBrowse link
G TEKT3 tektin 3 IAGP HPO MIM:620277 NCBI chr17:15,303,812...15,343,671
Ensembl chr17:15,303,811...15,341,632
JBrowse link
Altered location of the longitudinal column in the fibrous sheath term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNALI1 dynein axonemal light intermediate chain 1 IAGP HPO MIM:620354 NCBI chr 1:37,556,940...37,566,857
Ensembl chr 1:37,556,919...37,566,857
JBrowse link
Bent sperm flagella term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP61 cilia and flagella associated protein 61 IAGP HPO MIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703
JBrowse link
G LRRC23 leucine rich repeat containing 23 IAGP HPO MIM:620848 NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241
JBrowse link
G STK33 serine/threonine kinase 33 IAGP HPO MIM:620849 NCBI chr11:8,334,824...8,594,228
Ensembl chr11:8,391,868...8,594,289
JBrowse link
Coiled sperm flagella term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK7 adenylate kinase 7 IAGP HPO MIM:617965 NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427
JBrowse link
G AKAP3 A-kinase anchoring protein 3 IAGP HPO MIM:620353 NCBI chr12:4,615,518...4,649,051
Ensembl chr12:4,615,508...4,649,051
JBrowse link
G ARMC2 armadillo repeat containing 2 IAGP HPO MIM:618433 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO MIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,369,962
JBrowse link
G CCDC146 coiled-coil domain containing 146 IAGP HPO MIM:620850 NCBI chr 7:77,122,615...77,295,204
Ensembl chr 7:77,122,434...77,329,533
JBrowse link
G CFAP251 cilia and flagella associated protein 251 IAGP HPO MIM:618152 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927
JBrowse link
G CFAP43 cilia and flagella associated protein 43 IAGP HPO MIM:617592 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364
JBrowse link
G CFAP44 cilia and flagella associated protein 44 IAGP HPO MIM:617593 NCBI chr 3:113,286,930...113,441,514
Ensembl chr 3:113,286,930...113,441,610
JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP HPO MIM:301059 NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317
JBrowse link
G CFAP58 cilia and flagella associated protein 58 IAGP HPO MIM:619144 NCBI chr10:104,338,520...104,455,102
Ensembl chr10:104,353,833...104,455,102
JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO MIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703
JBrowse link
G CFAP65 cilia and flagella associated protein 65 IAGP HPO MIM:618664 NCBI chr 2:219,002,846...219,041,551
Ensembl chr 2:219,002,846...219,041,527
JBrowse link
G CFAP69 cilia and flagella associated protein 69 IAGP HPO MIM:617959 NCBI chr 7:90,245,174...90,323,723
Ensembl chr 7:90,245,174...90,311,063
JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO MIM:620197 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO MIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102
JBrowse link
G CYLC1 cylicin 1 IAGP HPO MIM:301119 NCBI chr  X:83,861,146...83,886,698
Ensembl chr  X:83,861,126...83,886,699
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO MIM:617576 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO MIM:619515 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720
JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP HPO MIM:618643 NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP HPO MIM:619094 NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742
JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP HPO MIM:620356 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837
JBrowse link
G DNAH8 dynein axonemal heavy chain 8 IAGP HPO MIM:619095 NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792
JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO MIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO MIM:620222 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP HPO MIM:618153 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290
JBrowse link
G KCNU1 potassium calcium-activated channel subfamily U member 1 IAGP HPO MIM:620196 NCBI chr 8:36,784,374...36,936,125
Ensembl chr 8:36,784,324...36,936,125
JBrowse link
G LRRC23 leucine rich repeat containing 23 IAGP HPO MIM:620848 NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241
JBrowse link
G QRICH2 glutamine rich 2 IAGP HPO MIM:618341 NCBI chr17:76,274,049...76,310,964
Ensembl chr17:76,274,049...76,308,276
JBrowse link
G SPACA1 sperm acrosome associated 1 IAGP HPO MIM:620490 NCBI chr 6:88,046,901...88,066,838
Ensembl chr 6:88,047,841...88,066,838
JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO MIM:618751 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
JBrowse link
G SSX1 SSX family member 1 IAGP HPO MIM:301099 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444
JBrowse link
G STK33 serine/threonine kinase 33 IAGP HPO MIM:620849 NCBI chr11:8,334,824...8,594,228
Ensembl chr11:8,391,868...8,594,289
JBrowse link
G TTC21A tetratricopeptide repeat domain 21A IAGP HPO MIM:618429 NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903
JBrowse link
G TTC29 tetratricopeptide repeat domain 29 IAGP HPO MIM:618745 NCBI chr 4:146,706,617...146,945,864
Ensembl chr 4:146,706,617...146,945,882
JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO MIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:619867 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Decreased acrosin in sperm head term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPATA16 spermatogenesis associated 16 IAGP HPO MIM:102530 NCBI chr 3:172,889,357...173,141,235
Ensembl chr 3:172,889,357...173,141,235
JBrowse link
Excess residual spermatozoal cytoplasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CT55 cancer/testis antigen 55 IAGP HPO MIM:301106 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398
JBrowse link
Globozoospermia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2CD6 C2 calcium dependent domain containing 6 IAGP HPO MIM:619805 NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178
JBrowse link
G CCDC62 coiled-coil domain containing 62 IAGP HPO MIM:619803 NCBI chr12:122,774,572...122,827,528
Ensembl chr12:122,774,526...122,827,528
JBrowse link
G CCIN calicin IAGP HPO MIM:620838 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334
JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO MIM:301106 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398
JBrowse link
G DPY19L2 dpy-19 like 2 IAGP HPO MIM:613958 NCBI chr12:63,558,913...63,668,805
Ensembl chr12:63,558,913...63,668,939
JBrowse link
G GGN gametogenetin IAGP HPO MIM:619826 NCBI chr19:38,384,267...38,388,384
Ensembl chr19:38,384,267...38,388,082
JBrowse link
G SPACA1 sperm acrosome associated 1 IAGP HPO MIM:620490 NCBI chr 6:88,046,901...88,066,838
Ensembl chr 6:88,047,841...88,066,838
JBrowse link
G SPATA16 spermatogenesis associated 16 IAGP ClinVar Annotator: match by term: Globozoospermia ClinVar
HPO
PMID:17847006 PMID:24265589 PMID:25741868 PMID:28492532 PMID:29065458 MIM:102530 NCBI chr 3:172,889,357...173,141,235
Ensembl chr 3:172,889,357...173,141,235
JBrowse link
G ZPBP zona pellucida binding protein IAGP HPO MIM:619799 NCBI chr 7:49,840,654...50,093,246
Ensembl chr 7:49,850,421...50,121,329
JBrowse link
Irregularly shaped sperm tail term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP HPO MIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559
JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO MIM:620084 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234
JBrowse link
G CCIN calicin IAGP HPO MIM:620838 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334
JBrowse link
G CFAP251 cilia and flagella associated protein 251 IAGP HPO MIM:618152 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927
JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP HPO MIM:301059 NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317
JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO MIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703
JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO MIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO MIM:617576 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO MIM:619515 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720
JBrowse link
G DNAH8 dynein axonemal heavy chain 8 IAGP HPO MIM:619095 NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792
JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO MIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758
JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP HPO MIM:618153 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290
JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO MIM:619585 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G SSX1 SSX family member 1 IAGP HPO MIM:301099 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444
JBrowse link
G STK33 serine/threonine kinase 33 IAGP HPO MIM:620849 NCBI chr11:8,334,824...8,594,228
Ensembl chr11:8,391,868...8,594,289
JBrowse link
G TTC21A tetratricopeptide repeat domain 21A IAGP HPO MIM:618429 NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:619867 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Macrozoospermia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AURKC aurora kinase C IAGP HPO MIM:243060 NCBI chr19:57,231,023...57,235,548
Ensembl chr19:57,231,009...57,235,548
JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO MIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102
JBrowse link
Microcephalic sperm head term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP69 cilia and flagella associated protein 69 IAGP HPO MIM:617959 NCBI chr 7:90,245,174...90,323,723
Ensembl chr 7:90,245,174...90,311,063
JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO MIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102
JBrowse link
G IQCN IQ motif containing N IAGP HPO MIM:620170 NCBI chr19:18,257,098...18,274,452
Ensembl chr19:18,257,098...18,274,500
JBrowse link
G TTC29 tetratricopeptide repeat domain 29 IAGP HPO MIM:618745 NCBI chr 4:146,706,617...146,945,864
Ensembl chr 4:146,706,617...146,945,882
JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO MIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109
JBrowse link
Multiflagellar spermatozoa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AURKC aurora kinase C IAGP HPO MIM:243060 NCBI chr19:57,231,023...57,235,548
Ensembl chr19:57,231,009...57,235,548
JBrowse link
G CCDC146 coiled-coil domain containing 146 IAGP HPO MIM:620850 NCBI chr 7:77,122,615...77,295,204
Ensembl chr 7:77,122,434...77,329,533
JBrowse link
G CT55 cancer/testis antigen 55 IAGP HPO MIM:301106 NCBI chr  X:135,156,536...135,171,827
Ensembl chr  X:135,156,540...135,171,398
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO MIM:620103 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
Ruffled acrosome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACR acrosin IAGP HPO MIM:620500 NCBI chr22:50,738,204...50,745,339
Ensembl chr22:50,738,196...50,745,339
JBrowse link
G ACTL7A actin like 7A IAGP HPO MIM:620499 NCBI chr 9:108,862,266...108,863,756
Ensembl chr 9:108,862,266...108,863,756
JBrowse link
Short sperm flagella term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK7 adenylate kinase 7 IAGP HPO MIM:617965 NCBI chr14:96,392,128...96,489,427
Ensembl chr14:96,392,128...96,489,427
JBrowse link
G AKAP3 A-kinase anchoring protein 3 IAGP HPO MIM:620353 NCBI chr12:4,615,518...4,649,051
Ensembl chr12:4,615,508...4,649,051
JBrowse link
G BRWD1 bromodomain and WD repeat domain containing 1 IAGP HPO MIM:620438 NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO MIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,369,962
JBrowse link
G CCDC146 coiled-coil domain containing 146 IAGP HPO MIM:620850 NCBI chr 7:77,122,615...77,295,204
Ensembl chr 7:77,122,434...77,329,533
JBrowse link
G CCDC34 coiled-coil domain containing 34 IAGP HPO MIM:620084 NCBI chr11:27,338,512...27,363,215
Ensembl chr11:27,330,827...27,363,234
JBrowse link
G CFAP251 cilia and flagella associated protein 251 IAGP HPO MIM:618152 NCBI chr12:121,918,592...122,003,919
Ensembl chr12:121,918,592...122,003,927
JBrowse link
G CFAP43 cilia and flagella associated protein 43 IAGP HPO MIM:617592 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364
JBrowse link
G CFAP44 cilia and flagella associated protein 44 IAGP HPO MIM:617593 NCBI chr 3:113,286,930...113,441,514
Ensembl chr 3:113,286,930...113,441,610
JBrowse link
G CFAP47 cilia and flagella associated protein 47 IAGP HPO MIM:301059 NCBI chr  X:35,919,734...36,385,317
Ensembl chr  X:35,919,734...36,385,317
JBrowse link
G CFAP58 cilia and flagella associated protein 58 IAGP HPO MIM:619144 NCBI chr10:104,338,520...104,455,102
Ensembl chr10:104,353,833...104,455,102
JBrowse link
G CFAP61 cilia and flagella associated protein 61 IAGP HPO MIM:620409 NCBI chr20:20,052,532...20,360,698
Ensembl chr20:20,052,514...20,360,703
JBrowse link
G CFAP65 cilia and flagella associated protein 65 IAGP HPO MIM:618664 NCBI chr 2:219,002,846...219,041,551
Ensembl chr 2:219,002,846...219,041,527
JBrowse link
G CFAP69 cilia and flagella associated protein 69 IAGP HPO MIM:617959 NCBI chr 7:90,245,174...90,323,723
Ensembl chr 7:90,245,174...90,311,063
JBrowse link
G CFAP70 cilia and flagella associated protein 70 IAGP HPO MIM:618670 NCBI chr10:73,253,762...73,362,979
Ensembl chr10:73,253,762...73,358,864
JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO MIM:620197 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
JBrowse link
G CFAP91 cilia and flagella associated protein 91 IAGP HPO MIM:619177 NCBI chr 3:119,703,022...119,767,102
Ensembl chr 3:119,703,022...119,767,102
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO MIM:617576 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DNAH10 dynein axonemal heavy chain 10 IAGP HPO MIM:619515 NCBI chr12:123,762,301...123,935,720
Ensembl chr12:123,762,188...123,935,720
JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP HPO MIM:618643 NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP HPO MIM:619094 NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742
JBrowse link
G DNAH7 dynein axonemal heavy chain 7 IAGP HPO MIM:620356 NCBI chr 2:195,737,703...196,068,837
Ensembl chr 2:195,737,703...196,068,837
JBrowse link
G DNAH8 dynein axonemal heavy chain 8 IAGP HPO MIM:619095 NCBI chr 6:38,715,311...39,030,792
Ensembl chr 6:38,715,311...39,030,792
JBrowse link
G DNHD1 dynein heavy chain domain 1 IAGP HPO MIM:619712 NCBI chr11:6,497,280...6,572,020
Ensembl chr11:6,497,260...6,593,758
JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO MIM:620222 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 IAGP HPO MIM:619102 NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706
JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP HPO MIM:618153 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290
JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO MIM:619585 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G LRRC23 leucine rich repeat containing 23 IAGP HPO MIM:620848 NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241
JBrowse link
G QRICH2 glutamine rich 2 IAGP HPO MIM:618341 NCBI chr17:76,274,049...76,310,964
Ensembl chr17:76,274,049...76,308,276
JBrowse link
G SSX1 SSX family member 1 IAGP HPO MIM:301099 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444
JBrowse link
G STK33 serine/threonine kinase 33 IAGP HPO MIM:620849 NCBI chr11:8,334,824...8,594,228
Ensembl chr11:8,391,868...8,594,289
JBrowse link
G TTC21A tetratricopeptide repeat domain 21A IAGP HPO MIM:618429 NCBI chr 3:39,107,680...39,138,900
Ensembl chr 3:39,107,680...39,138,903
JBrowse link
G TTC29 tetratricopeptide repeat domain 29 IAGP HPO MIM:618745 NCBI chr 4:146,706,617...146,945,864
Ensembl chr 4:146,706,617...146,945,882
JBrowse link
G USP26 ubiquitin specific peptidase 26 IAGP HPO MIM:301101 NCBI chr  X:133,023,168...133,097,109
Ensembl chr  X:133,023,168...133,097,109
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO MIM:619867 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Tapered sperm head term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL9 actin like 9 IAGP HPO MIM:619258 NCBI chr19:8,697,400...8,698,795
Ensembl chr19:8,697,400...8,698,795
JBrowse link
G ARMC2 armadillo repeat containing 2 IAGP HPO MIM:618433 NCBI chr 6:108,848,422...109,053,040
Ensembl chr 6:108,848,416...108,974,476
JBrowse link
G CATIP ciliogenesis associated TTC17 interacting protein IAGP HPO MIM:619379 NCBI chr 2:218,356,857...218,368,094
Ensembl chr 2:218,356,857...218,369,962
JBrowse link
G CFAP69 cilia and flagella associated protein 69 IAGP HPO MIM:617959 NCBI chr 7:90,245,174...90,323,723
Ensembl chr 7:90,245,174...90,311,063
JBrowse link
G CFAP70 cilia and flagella associated protein 70 IAGP HPO MIM:618670 NCBI chr10:73,253,762...73,362,979
Ensembl chr10:73,253,762...73,358,864
JBrowse link
G DNAH17 dynein axonemal heavy chain 17 IAGP HPO MIM:618643 NCBI chr17:78,423,697...78,577,396
Ensembl chr17:78,423,697...78,577,396
JBrowse link
G IQCN IQ motif containing N IAGP HPO MIM:620170 NCBI chr19:18,257,098...18,274,452
Ensembl chr19:18,257,098...18,274,500
JBrowse link
G TTC29 tetratricopeptide repeat domain 29 IAGP HPO MIM:618745 NCBI chr 4:146,706,617...146,945,864
Ensembl chr 4:146,706,617...146,945,882
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87531
    Phenotypic abnormality 87110
      Abnormality of the genitourinary system 10356
        Abnormality of the genital system 7905
          Abnormal reproductive system morphology 7059
            Abnormal germ cell morphology 86
              Abnormal male germ cell morphology + 86
paths to the root