Class information for:
Level 1: KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//NIIKAWA KUROKI SYNDROME

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
25685 227 21.6 82%


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 KABUKI SYNDROME Author keyword 257 91% 48% 108
2 KABUKI MAKE UP SYNDROME Author keyword 77 96% 11% 24
3 NIIKAWA KUROKI SYNDROME Author keyword 69 96% 10% 22
4 KMT2D Author keyword 21 90% 4% 9
5 MLL2 Author keyword 12 56% 7% 15
6 LONG PALPEBRAL FISSURES Author keyword 11 100% 3% 6
7 KDM6A Author keyword 9 64% 4% 9
8 LOWER LIP PITS Author keyword 2 44% 2% 4
9 FETAL PADS Author keyword 2 67% 1% 2
10 AREA FUNZ GENET CLIN PEDIAT Address 1 100% 1% 2

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 257 91% 48% 108 Search KABUKI+SYNDROME Search KABUKI+SYNDROME
2 KABUKI MAKE UP SYNDROME 77 96% 11% 24 Search KABUKI+MAKE+UP+SYNDROME Search KABUKI+MAKE+UP+SYNDROME
3 NIIKAWA KUROKI SYNDROME 69 96% 10% 22 Search NIIKAWA+KUROKI+SYNDROME Search NIIKAWA+KUROKI+SYNDROME
4 KMT2D 21 90% 4% 9 Search KMT2D Search KMT2D
5 MLL2 12 56% 7% 15 Search MLL2 Search MLL2
6 LONG PALPEBRAL FISSURES 11 100% 3% 6 Search LONG+PALPEBRAL+FISSURES Search LONG+PALPEBRAL+FISSURES
7 KDM6A 9 64% 4% 9 Search KDM6A Search KDM6A
8 LOWER LIP PITS 2 44% 2% 4 Search LOWER+LIP+PITS Search LOWER+LIP+PITS
9 FETAL PADS 2 67% 1% 2 Search FETAL+PADS Search FETAL+PADS
10 KABUKI MAKEUP SYNDROME 1 100% 1% 2 Search KABUKI+MAKEUP+SYNDROME Search KABUKI+MAKEUP+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 221 86% 49% 112
2 NIIKAWA KUROKI SYNDROME 198 83% 49% 112
3 MLL2 26 69% 10% 22
4 EARS 23 19% 48% 110
5 RING CHROMOSOME X 21 90% 4% 9
6 ECTODERMAL ABNORMALITIES 18 83% 4% 10
7 LOWER LIP PITS 15 71% 5% 12
8 KDM6A 15 77% 4% 10
9 POSTNATAL DWARFISM 14 100% 3% 7
10 SYNDROME LIKE FEATURES 9 83% 2% 5

Journals

Reviews


Title Publ. year Cit. Active
references		 % act. ref.
to same field
Kabuki syndrome: a review 2005 47 58 98%
Kabuki make-up syndrome: A review 2003 80 37 97%
Kabuki syndrome: a review study of three hundred patients 2002 50 41 98%
Unmasking Kabuki syndrome 2013 15 69 74%
Oral features in Kabuki make-up Syndrome 2008 2 18 100%
Congenital heart defects in Kabuki syndrome 2013 2 27 89%
Kabuki syndrome revisited 2012 9 30 63%
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations 2015 0 27 93%
Kabuki syndrome: Description of a 2-year old roumanian boy and review of the literature 2007 1 12 100%
Kabuki make-up syndrome and report of a case with hydrocephalus 1998 14 29 90%

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 AREA FUNZ GENET CLIN PEDIAT 1 100% 0.9% 2
2 CHEUNG SHA WAN JOCKEY CLUB CLIN 2F 1 50% 0.4% 1
3 CLIN PEDIAT UNIV MILANO BICOCCA 1 50% 0.4% 1
4 LYMPHOL MICROSURG 1 50% 0.4% 1
5 NANOBIOTECHNOL BIOANALY GRP 1 50% 0.4% 1
6 PEDIAT PEDIAT GENET METAB 1 50% 0.4% 1
7 PLASTY 1 50% 0.4% 1
8 PROGRAM POST SCI REHABIL 1 50% 0.4% 1
9 SECT CHILDHOOD ADOLESCENCE NEUROPSYCHIAT 1 50% 0.4% 1
10 AMBULATORIO GENET CLIN PEDIAT 1 22% 0.9% 2

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000204320 CEREBRO COSTO MANDIBULAR SYNDROME//MALPUECH SYNDROME//MICHELS SYNDROME
2 0.0000124064 SCHINZEL GIEDION SYNDROME//MEGACALYCOSIS//MIDFACE RETRACTION
3 0.0000111299 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER
4 0.0000083898 TRISOMY 9P//TETRASOMY 9P//PARTIAL TRISOMY 7P
5 0.0000077985 KBG SYNDROME//AARSKOG SCOTT SYNDROME//FACIOGENITAL DYSPLASIA
6 0.0000071070 VAN DER WOUDE SYNDROME//SYNGNATHIA//LIP PITS
7 0.0000059286 ALAGILLE SYNDROME//ARTERIOHEPATIC DYSPLASIA//ALAGILLES SYNDROME
8 0.0000056112 TURNER SYNDROME//TURNERS SYNDROME//ULLRICH TURNER SYNDROME
9 0.0000055163 HISTONE DEMETHYLASE//HISTONE DEMETHYLATION//LSD1
10 0.0000055119 SOTOS SYNDROME//WEAVER SYNDROME//CEREBRAL GIGANTISM