Class information for:
Level 2: SMITH LEMLI OPITZ SYNDROME//INCONTINENTIA PIGMENTI//CHONDRODYSPLASIA PUNCTATA

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
3008 2083 27.2 68%


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
10632 980 SMITH LEMLI OPITZ SYNDROME//CHONDRODYSPLASIA PUNCTATA//7 DEHYDROCHOLESTEROL
14908 673 INCONTINENTIA PIGMENTI//HYPOMELANOSIS OF ITO//BLOCH SULZBERGER SYNDROME
19675 430 AICARDI SYNDROME//GOLTZ SYNDROME//FOCAL DERMAL HYPOPLASIA

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 SMITH LEMLI OPITZ SYNDROME Author keyword 337 84% 9% 182
2 INCONTINENTIA PIGMENTI Author keyword 193 83% 5% 110
3 CHONDRODYSPLASIA PUNCTATA Author keyword 83 74% 3% 61
4 AICARDI SYNDROME Author keyword 81 79% 2% 52
5 7 DEHYDROCHOLESTEROL Author keyword 79 61% 4% 84
6 GOLTZ SYNDROME Author keyword 62 92% 1% 24
7 FOCAL DERMAL HYPOPLASIA Author keyword 59 81% 2% 35
8 HYPOMELANOSIS OF ITO Author keyword 51 70% 2% 42
9 CHILD SYNDROME Author keyword 44 85% 1% 23
10 SMITH LEMLI OPITZ Author keyword 42 94% 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 SMITH LEMLI OPITZ SYNDROME 337 84% 9% 182 Search SMITH+LEMLI+OPITZ+SYNDROME Search SMITH+LEMLI+OPITZ+SYNDROME
2 INCONTINENTIA PIGMENTI 193 83% 5% 110 Search INCONTINENTIA+PIGMENTI Search INCONTINENTIA+PIGMENTI
3 CHONDRODYSPLASIA PUNCTATA 83 74% 3% 61 Search CHONDRODYSPLASIA+PUNCTATA Search CHONDRODYSPLASIA+PUNCTATA
4 AICARDI SYNDROME 81 79% 2% 52 Search AICARDI+SYNDROME Search AICARDI+SYNDROME
5 7 DEHYDROCHOLESTEROL 79 61% 4% 84 Search 7+DEHYDROCHOLESTEROL Search 7+DEHYDROCHOLESTEROL
6 GOLTZ SYNDROME 62 92% 1% 24 Search GOLTZ+SYNDROME Search GOLTZ+SYNDROME
7 FOCAL DERMAL HYPOPLASIA 59 81% 2% 35 Search FOCAL+DERMAL+HYPOPLASIA Search FOCAL+DERMAL+HYPOPLASIA
8 HYPOMELANOSIS OF ITO 51 70% 2% 42 Search HYPOMELANOSIS+OF+ITO Search HYPOMELANOSIS+OF+ITO
9 CHILD SYNDROME 44 85% 1% 23 Search CHILD+SYNDROME Search CHILD+SYNDROME
10 SMITH LEMLI OPITZ 42 94% 1% 15 Search SMITH+LEMLI+OPITZ Search SMITH+LEMLI+OPITZ

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 DEFECTIVE CHOLESTEROL BIOSYNTHESIS 159 84% 4% 86
2 BLOCH SULZBERGER SYNDROME 101 84% 3% 56
3 DELTA 7 STEROL REDUCTASE GENE 99 91% 2% 41
4 7 DEHYDROCHOLESTEROL 75 59% 4% 84
5 INCONTINENTIA PIGMENTI ACHROMIANS 69 81% 2% 42
6 DELTA 7 STEROL REDUCTASE 66 74% 2% 49
7 LEMLI OPITZ SYNDROME 55 28% 8% 168
8 DOMINANT CHONDRODYSPLASIA PUNCTATA 55 69% 2% 47
9 7 DEHYDROCHOLESTEROL REDUCTASE GENE 38 89% 1% 17
10 SYNDROME SLOS 38 93% 1% 14

Journals

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Malformation syndromes caused by disorders of cholesterol synthesis 2011 92 294 61%
Systematic review of central nervous system anomalies in incontinentia pigmenti 2013 12 33 64%
Aicardi syndrome 2005 78 25 88%
The Smith-Lemli-Opitz syndrome 2000 235 106 69%
Neurological findings in incontinentia pigmenti; a review 2012 14 51 73%
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome 2014 3 40 78%
Smith-Lemli-Opitz syndrome 2011 20 114 88%
Human malformation syndromes due to inborn errors of cholesterol synthesis 2003 70 54 89%
Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature 2010 10 24 96%
Progressive macular hypomelanosis - An overview 2007 22 9 100%

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 UNIT MOL DYSMORPHOL 21 90% 0.4% 9
2 TRANSFER HIGH EDUC CHRON INFLAMMATORY D 7 43% 0.6% 13
3 HERITABLE DISORDERS BRANCH 4 13% 1.4% 29
4 SECT MOL DYSMORPHOL 3 40% 0.3% 6
5 SERV EMBRYOL 2 67% 0.1% 2
6 EXPT PHYLAXIOL 2 30% 0.3% 6
7 DOERNBECHER MEM HOSP CHILDREN 1 13% 0.5% 10
8 STUDY SERV 1 100% 0.1% 2
9 INBORN METAB DIS 1 12% 0.4% 9
10 FUNCT GENOM BIOCHIPS 1 12% 0.3% 7

Related classes at same level (level 2)


Rank Relatedness score Related classes
1 0.0000011784 XIST//X CHROMOSOME INACTIVATION//TSIX
2 0.0000010808 ACHONDROPLASIA//HYPOCHONDROPLASIA//THANATOPHORIC DYSPLASIA
3 0.0000010503 RETT SYNDROME//MECP2//MECP2 GENE
4 0.0000009006 WOLF HIRSCHHORN SYNDROME//HOLOPROSENCEPHALY//ANNALES DE GENETIQUE
5 0.0000008401 BOVINE HIPPOCAMPUS//SEROTONIN1A RECEPTOR//P MPPF
6 0.0000008240 HAILEY HAILEY DISEASE//DARIERS DISEASE//VERRUCIFORM XANTHOMA
7 0.0000008071 I KAPPA B//C REL//IKK
8 0.0000007906 BASAL CELL CARCINOMA//EXTRAMAMMARY PAGETS DISEASE//SEBACEOUS CARCINOMA
9 0.0000007693 POROKERATOSIS//DYSCHROMATOSIS SYMMETRICA HEREDITARIA//ACANTHOSIS NIGRICANS
10 0.0000007330 KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//TRICHORHINOPHALANGEAL SYNDROME