Class information for:
Level 2: VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//PSEUDOHYPOPARATHYROIDISM

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
2321 4046 32.6 72%


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
4780 1654 VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//VELO CARDIO FACIAL SYNDROME
11553 907 PSEUDOHYPOPARATHYROIDISM//ALBRIGHT HEREDITARY OSTEODYSTROPHY//ALBRIGHTS HEREDITARY OSTEODYSTROPHY
15325 648 AICARDI GOUTIERES SYNDROME//TREX1//RIBONUCLEASE H
17360 539 FAHRS DISEASE//BASAL GANGLIA CALCIFICATION//FAHRS SYNDROME
23243 298 HDR SYNDROME//KENNY CAFFEY SYNDROME//HYPOPARATHYROIDISM

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 VELOCARDIOFACIAL SYNDROME Author keyword 278 74% 5% 208
2 DIGEORGE SYNDROME Author keyword 254 64% 6% 245
3 PSEUDOHYPOPARATHYROIDISM Author keyword 210 82% 3% 124
4 VELO CARDIO FACIAL SYNDROME Author keyword 121 75% 2% 86
5 AICARDI GOUTIERES SYNDROME Author keyword 116 88% 1% 56
6 22Q11 DELETION SYNDROME Author keyword 115 79% 2% 74
7 FAHRS DISEASE Author keyword 114 88% 1% 53
8 22Q112 DELETION SYNDROME Author keyword 112 70% 2% 93
9 22Q11 DELETION Author keyword 91 73% 2% 69
10 22Q112 DELETION Author keyword 87 78% 1% 57

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 VELOCARDIOFACIAL SYNDROME 278 74% 5% 208 Search VELOCARDIOFACIAL+SYNDROME Search VELOCARDIOFACIAL+SYNDROME
2 DIGEORGE SYNDROME 254 64% 6% 245 Search DIGEORGE+SYNDROME Search DIGEORGE+SYNDROME
3 PSEUDOHYPOPARATHYROIDISM 210 82% 3% 124 Search PSEUDOHYPOPARATHYROIDISM Search PSEUDOHYPOPARATHYROIDISM
4 VELO CARDIO FACIAL SYNDROME 121 75% 2% 86 Search VELO+CARDIO+FACIAL+SYNDROME Search VELO+CARDIO+FACIAL+SYNDROME
5 AICARDI GOUTIERES SYNDROME 116 88% 1% 56 Search AICARDI+GOUTIERES+SYNDROME Search AICARDI+GOUTIERES+SYNDROME
6 22Q11 DELETION SYNDROME 115 79% 2% 74 Search 22Q11+DELETION+SYNDROME Search 22Q11+DELETION+SYNDROME
7 FAHRS DISEASE 114 88% 1% 53 Search FAHRS+DISEASE Search FAHRS+DISEASE
8 22Q112 DELETION SYNDROME 112 70% 2% 93 Search 22Q112+DELETION+SYNDROME Search 22Q112+DELETION+SYNDROME
9 22Q11 DELETION 91 73% 2% 69 Search 22Q11+DELETION Search 22Q11+DELETION
10 22Q112 DELETION 87 78% 1% 57 Search 22Q112+DELETION Search 22Q112+DELETION

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 CARDIO FACIAL SYNDROME 636 60% 17% 694
2 VELOCARDIOFACIAL SYNDROME 516 76% 9% 359
3 DIGEORGE SYNDROME 258 49% 9% 384
4 CHROMOSOME 22Q11 246 79% 4% 155
5 ALBRIGHT HEREDITARY OSTEODYSTROPHY 157 65% 4% 148
6 GS ALPHA GENE 110 74% 2% 82
7 DIGEORGE VELOCARDIOFACIAL SYNDROME 104 90% 1% 45
8 IMPRINTING CONTROL ELEMENT 102 85% 1% 53
9 PROGRESSIVE FAMILIAL ENCEPHALOPATHY 91 85% 1% 47
10 ANOMALY FACE SYNDROME 79 79% 1% 50

Journals

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Type I interferonopathies: Mendelian type I interferon up-regulation 2015 10 41 54%
Ribonuclease H: the enzymes in eukaryotes 2009 138 42 79%
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes 2007 183 117 82%
Velo-cardio-facial syndrome: 30 Years of study 2008 144 52 85%
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia 2010 125 169 50%
Pseudohypoparathyroidism: Diagnosis and Treatment 2011 40 99 90%
Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome 2014 17 51 63%
Therapies in Aicardi-Goutieres syndrome 2014 13 35 77%
Cardiovascular Anomalies Associated With Chromosome 22q11.2 Deletion Syndrome 2010 65 77 73%
Practical guidelines for managing adults with 22q11.2 deletion syndrome 2015 2 61 85%

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 CLIN GENET PROGRAM 22 42% 1.0% 40
2 REFERENCE MALAD RA METAB CALCIUM PHOSPHO 13 80% 0.2% 8
3 REFERENCE RARE DISORDERS CALCIUM PHOSPHORUS 12 86% 0.1% 6
4 DIAG TREATMENT STUDY VELOCARDIO IAL SYNDR 11 100% 0.1% 6
5 ALBRIGHT CLIN 9 83% 0.1% 5
6 NEUROGENET NEUROINFLAMMAT 7 67% 0.1% 6
7 HUMAN GENET MOL BIOL 7 15% 1.0% 41
8 GEN NEUROL COMPLEX MOTOR DISORDERS SERV 6 80% 0.1% 4
9 METAB DIS BRANCH 6 13% 1.0% 42
10 BEHAV NEUROGENET 5 26% 0.4% 18

Related classes at same level (level 2)


Rank Relatedness score Related classes
1 0.0000015505 WILLIAMS SYNDROME//WILLIAMS BEUREN SYNDROME//SUPRAVALVULAR AORTIC STENOSIS
2 0.0000014059 GENOMIC IMPRINTING//H19//BECKWITH WIEDEMANN SYNDROME
3 0.0000009669 CHARGE SYNDROME//CHOANAL ATRESIA//NAGER SYNDROME
4 0.0000009193 WOLF HIRSCHHORN SYNDROME//HOLOPROSENCEPHALY//ANNALES DE GENETIQUE
5 0.0000007914 KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//TRICHORHINOPHALANGEAL SYNDROME
6 0.0000007904 PRADER WILLI SYNDROME//ANGELMAN SYNDROME//PAR 4
7 0.0000007065 APECED//AIRE//ADRENAL INSUFFICIENCY
8 0.0000006677 PRIMARY HYPERPARATHYROIDISM//HYPERPARATHYROIDISM//SECONDARY HYPERPARATHYROIDISM
9 0.0000005841 CLEFT PALATE-CRANIOFACIAL JOURNAL//CLEFT PALATE//CLEFT LIP
10 0.0000005436 NEURAL CREST//DEVELOPMENT//NODAL