Class information for:
Level 1: BLEPHAROPHIMOSIS//OHDO SYNDROME//BPES

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
20451 398 24.7 75%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)


ID, lev.
above		 Publications Label for level above
3508 1004 KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//TRICHORHINOPHALANGEAL SYNDROME

Terms with highest relevance score


Rank Term Type of term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 BLEPHAROPHIMOSIS Author keyword 50 58% 15% 58
2 OHDO SYNDROME Author keyword 27 92% 3% 11
3 BPES Author keyword 24 57% 7% 29
4 EPICANTHUS INVERSUS Author keyword 23 86% 3% 12
5 TORIELLO CAREY SYNDROME Author keyword 17 79% 3% 11
6 MARDEN WALKER SYNDROME Author keyword 17 72% 3% 13
7 YOUNG SIMPSON SYNDROME Author keyword 17 100% 2% 8
8 RITSCHER SCHINZEL SYNDROME Author keyword 15 77% 3% 10
9 FOXL2 Author keyword 12 27% 10% 39
10 BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME Author keyword 11 69% 2% 9

Web of Science journal categories

Author Key Words


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class		 LCSH search Wikipedia search
1 BLEPHAROPHIMOSIS 50 58% 15% 58 Search BLEPHAROPHIMOSIS Search BLEPHAROPHIMOSIS
2 OHDO SYNDROME 27 92% 3% 11 Search OHDO+SYNDROME Search OHDO+SYNDROME
3 BPES 24 57% 7% 29 Search BPES Search BPES
4 EPICANTHUS INVERSUS 23 86% 3% 12 Search EPICANTHUS+INVERSUS Search EPICANTHUS+INVERSUS
5 TORIELLO CAREY SYNDROME 17 79% 3% 11 Search TORIELLO+CAREY+SYNDROME Search TORIELLO+CAREY+SYNDROME
6 MARDEN WALKER SYNDROME 17 72% 3% 13 Search MARDEN+WALKER+SYNDROME Search MARDEN+WALKER+SYNDROME
7 YOUNG SIMPSON SYNDROME 17 100% 2% 8 Search YOUNG+SIMPSON+SYNDROME Search YOUNG+SIMPSON+SYNDROME
8 RITSCHER SCHINZEL SYNDROME 15 77% 3% 10 Search RITSCHER+SCHINZEL+SYNDROME Search RITSCHER+SCHINZEL+SYNDROME
9 FOXL2 12 27% 10% 39 Search FOXL2 Search FOXL2
10 BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME 11 69% 2% 9 Search BLEPHAROPHIMOSIS+PTOSIS+EPICANTHUS+INVERSUS+SYNDROME Search BLEPHAROPHIMOSIS+PTOSIS+EPICANTHUS+INVERSUS+SYNDROME

Key Words Plus


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 EPICANTHUS INVERSUS SYNDROME 99 80% 15% 61
2 SYNDROME BPES 98 94% 9% 34
3 BLEPHAROPHIMOSIS 42 60% 12% 46
4 BPES 42 72% 8% 33
5 HYPOPLASTIC TEETH 33 100% 3% 13
6 3Q23 21 85% 3% 11
7 BLEPHAROPHIMOSIS SYNDROME 19 76% 3% 13
8 TRANSCRIPTION FACTOR FOXL2 17 30% 12% 48
9 INVERSUS SYNDROME 17 44% 7% 29
10 OHDO SYNDROME 15 71% 3% 12

Journals

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
FOXL2 Impairment in Human Disease 2012 8 61 49%
The Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES, also known as Waardenburg Syndrome) 2012 0 11 100%
The transcription factor FOXL2: At the crossroads of ovarian physiology and pathology 2012 9 80 35%
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS-INVERSUS SYNDROME (BPES) ASSOCIATED WITH INTERSTITIAL DELETION OF BAND 3Q22 - REVIEW AND GENE ASSIGNMENT TO THE INTERFACE OF BAND-3Q22.3 AND BAND-3Q23 1993 35 21 62%
Foxl2 - function in ovarian development 2006 51 57 30%
FOXL2: a central transcription factor of the ovary 2014 3 122 20%
Forkhead transcription factors in ovarian function 2011 21 48 25%
Minireview: Roles of the Forkhead Transcription Factor FOXL2 in Granulosa Cell Biology and Pathology 2011 34 111 15%
Siblings With Phenotypic Overlap With Toriello-Carey Syndrome and Complex Cytogenetic Imbalances Including 3q29 Microduplication and 6p25 Microdeletion: Review of the Literature and Additional Evidence for Genetic Heterogeneity 2010 2 8 50%
Physical and functional evaluation in Marden-Walker syndrome: Case report - Review of literature 2014 0 13 46%

Address terms


Rank Address term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ.
in class
1 EQUIPE GENET GENOM DEV GONAD 3 57% 1.0% 4
2 TEAM 21 2 67% 0.5% 2
3 FERTIL REPROD MED 2 33% 1.0% 4
4 ORBIT CLIN 1 100% 0.5% 2
5 COCHIN MEDEQUIPE 21 1 50% 0.3% 1
6 DAVIS MED INVEST NEURODEV DISORDERS 1 50% 0.3% 1
7 ENDOCRINOL REPROD MED REFERENCE MALAD 1 50% 0.3% 1
8 HUMAN GENET UCL 1 50% 0.3% 1
9 HUNAN CHILDRENS HOSPPAEDIAT 1 50% 0.3% 1
10 MD PROGRAMME 1 50% 0.3% 1

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000158690 CEREBRO COSTO MANDIBULAR SYNDROME//MALPUECH SYNDROME//MICHELS SYNDROME
2 0.0000149086 BLEPHAROPTOSIS//FRONTALIS SUSPENSION//DOUBLE EYELID
3 0.0000130629 PREMATURE OVARIAN FAILURE//PRIMARY OVARIAN INSUFFICIENCY//AUTOIMMUNE OOPHORITIS
4 0.0000091367 OCULOPHARYNGEAL MUSCULAR DYSTROPHY//PABPN1//OPMD
5 0.0000086328 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT CCR//COMPLEX CHROMOSOMAL REARRANGEMENTS
6 0.0000084526 GRANULOSA CELL TUMOR//SCLEROSING STROMAL TUMOR//SERTOLI LEYDIG CELL TUMOR
7 0.0000080416 SRY//XX SEX REVERSAL//TESTIS DETERMINATION
8 0.0000079583 CRI DU CHAT SYNDROME//CRI DU CHAT//3P DELETION SYNDROME
9 0.0000078005 REVISED AMSTERDAM CRITERIA//POPULATION MEDICAL GENETICS//BOOLEAN SEARCH
10 0.0000077397 PERIPHERAL VENOUS PRESSURE//HIGH END ULTRASOUND//JOHN B PIERCE NSS