Class information for:
Level 2: KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//TRICHORHINOPHALANGEAL SYNDROME

Basic class information

ID Publications Average number
of references
Avg. shr. active
ref. in WoS
3508 1004 23.7 71%



Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 3)



ID, lev.
above
Publications Label for level above
96 73697 DNA METHYLATION//FRAGILE X SYNDROME//RETT SYNDROME

Classes in level below (level 1)



ID, lev. below Publications Label for level below
20451 398 BLEPHAROPHIMOSIS//OHDO SYNDROME//BPES
24542 258 TRICHORHINOPHALANGEAL SYNDROME//TRPS1//TRICHO RHINO PHALANGEAL SYNDROME
25685 227 KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//NIIKAWA KUROKI SYNDROME
31576 121 CEREBRO COSTO MANDIBULAR SYNDROME//MALPUECH SYNDROME//MICHELS 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 KABUKI SYNDROME Author keyword 270 92% 11% 109
2 KABUKI MAKE UP SYNDROME Author keyword 77 96% 2% 24
3 TRICHORHINOPHALANGEAL SYNDROME Author keyword 72 100% 2% 23
4 NIIKAWA KUROKI SYNDROME Author keyword 69 96% 2% 22
5 BLEPHAROPHIMOSIS Author keyword 55 60% 6% 60
6 TRPS1 Author keyword 36 79% 2% 23
7 CEREBRO COSTO MANDIBULAR SYNDROME Author keyword 34 93% 1% 13
8 EPICANTHUS INVERSUS Author keyword 34 93% 1% 13
9 OHDO SYNDROME Author keyword 27 92% 1% 11
10 TRICHO RHINO PHALANGEAL SYNDROME Author keyword 27 83% 1% 15

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 KABUKI SYNDROME 270 92% 11% 109 Search KABUKI+SYNDROME Search KABUKI+SYNDROME
2 KABUKI MAKE UP SYNDROME 77 96% 2% 24 Search KABUKI+MAKE+UP+SYNDROME Search KABUKI+MAKE+UP+SYNDROME
3 TRICHORHINOPHALANGEAL SYNDROME 72 100% 2% 23 Search TRICHORHINOPHALANGEAL+SYNDROME Search TRICHORHINOPHALANGEAL+SYNDROME
4 NIIKAWA KUROKI SYNDROME 69 96% 2% 22 Search NIIKAWA+KUROKI+SYNDROME Search NIIKAWA+KUROKI+SYNDROME
5 BLEPHAROPHIMOSIS 55 60% 6% 60 Search BLEPHAROPHIMOSIS Search BLEPHAROPHIMOSIS
6 TRPS1 36 79% 2% 23 Search TRPS1 Search TRPS1
7 CEREBRO COSTO MANDIBULAR SYNDROME 34 93% 1% 13 Search CEREBRO+COSTO+MANDIBULAR+SYNDROME Search CEREBRO+COSTO+MANDIBULAR+SYNDROME
8 EPICANTHUS INVERSUS 34 93% 1% 13 Search EPICANTHUS+INVERSUS Search EPICANTHUS+INVERSUS
9 OHDO SYNDROME 27 92% 1% 11 Search OHDO+SYNDROME Search OHDO+SYNDROME
10 TRICHO RHINO PHALANGEAL SYNDROME 27 83% 1% 15 Search TRICHO+RHINO+PHALANGEAL+SYNDROME Search TRICHO+RHINO+PHALANGEAL+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 MAKE UP SYNDROME 230 87% 11% 113
2 NIIKAWA KUROKI SYNDROME 212 84% 11% 114
3 EPICANTHUS INVERSUS SYNDROME 99 80% 6% 61
4 SYNDROME BPES 98 94% 3% 34
5 BLEPHAROPHIMOSIS 42 60% 5% 46
6 BPES 42 72% 3% 33
7 RHINO PHALANGEAL SYNDROME 35 76% 2% 25
8 HYPOPLASTIC TEETH 33 100% 1% 13
9 TRICHORHINOPHALANGEAL SYNDROME 32 65% 3% 30
10 MLL2 26 69% 2% 22

Journals

Reviews



Title Publ. year Cit. Active
references
% act. ref.
to same field
Kabuki make-up syndrome: A review 2003 80 37 97%
Kabuki syndrome: a review 2005 47 58 98%
Unmasking Kabuki syndrome 2013 15 69 74%
Kabuki syndrome: a review study of three hundred patients 2002 50 41 98%
Foxl2 - function in ovarian development 2006 51 57 30%
Kabuki syndrome revisited 2012 9 30 63%
Congenital heart defects in Kabuki syndrome 2013 2 27 89%
The cerebro-costo-mandibular syndrome: seven patients and review of the literature 1998 16 13 92%
Kabuki make-up syndrome and report of a case with hydrocephalus 1998 14 29 90%
The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles 2011 7 35 66%

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% 0.4% 4
2 TEAM 21 2 67% 0.2% 2
3 FERTIL REPROD MED 2 33% 0.4% 4
4 AREA FUNZ GENET CLIN PEDIAT 1 100% 0.2% 2
5 ORBIT CLIN 1 100% 0.2% 2
6 CHEUNG SHA WAN JOCKEY CLUB CLIN 2F 1 50% 0.1% 1
7 CLIN MATERNOINFANTIL 1 50% 0.1% 1
8 CLIN PEDIAT UNIV MILANO BICOCCA 1 50% 0.1% 1
9 COCHIN MEDEQUIPE 21 1 50% 0.1% 1
10 CONSULTAT CONSEIL GENET 1 50% 0.1% 1

Related classes at same level (level 2)



Rank Relatedness score Related classes
1 0.0000019459 RHOMBENCEPHALOSYNAPSIS//PONTOCEREBELLAR HYPOPLASIA//ARTHROGRYPOSIS
2 0.0000018416 SOTOS SYNDROME//WEAVER SYNDROME//CEREBRAL GIGANTISM
3 0.0000015890 WOLF HIRSCHHORN SYNDROME//HOLOPROSENCEPHALY//ANNALES DE GENETIQUE
4 0.0000015840 CHARGE SYNDROME//CHOANAL ATRESIA//NAGER SYNDROME
5 0.0000015282 TURNER SYNDROME//SRY//TURNERS SYNDROME
6 0.0000014899 HYPERTROPHIC OSTEOARTHROPATHY//SECKEL SYNDROME//PACHYDERMOPERIOSTOSIS
7 0.0000010720 HIRSCHSPRUNG DISEASE//INTESTINAL NEURONAL DYSPLASIA//AGANGLIONOSIS
8 0.0000009038 RBM5//MEIOTIC DRIVE//HUMAN CHROMOSOME 3
9 0.0000008854 FIBRILLARY GLOMERULONEPHRITIS//NAIL PATELLA SYNDROME//YELLOW NAIL SYNDROME
10 0.0000008474 PRADER WILLI SYNDROME//ANGELMAN SYNDROME//PAR 4