MCID: GRG001
MIFTS: 53

Greig Cephalopolysyndactyly Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

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Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Greig Cephalopolysyndactyly Syndrome:

Name: Greig Cephalopolysyndactyly Syndrome 50 11 22 46 23 24 13 52 12 48 37
Cephalopolysyndactyly Syndrome 22 23 24
Greig Syndrome 46 23 24
Gcps 46 52 68
Greig Cephalopolysyndactyly Syndrome 24 25
 
Polysyndactyly with Peculiars Skull Shape 11
Polysyndactyly with Peculiar Skull Shape 46
Greig Cephalo-Poly-Syndactyly Syndrome 68
Aarskog Syndrome 66

Characteristics:

Orphanet epidemiological data:

52
greig cephalopolysyndactyly syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal

HPO:

62
greig cephalopolysyndactyly syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 175700
Disease Ontology11 DOID:14761
MeSH37 C537300
NCIt43 C35255
Orphanet52 ORPHA380
SNOMED-CT60 32985001
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 C537300
UMLS via Orphanet67 C0265306
MedGen35 C0265306

Summaries for Greig Cephalopolysyndactyly Syndrome

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NIH Rare Diseases:46 Greig cephalopolysyndactyly syndrome (gcps) is a congenital disorder that affects development of the limbs, head, and face. findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).the features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. progression of gcps is dependent on severity. greig cephalopolysyndactyly syndrome is caused by mutations in the gli3 gene. this condition is inherited in an autosomal dominant pattern. treatment is symptomatic. last updated: 12/10/2015

MalaCards based summary: Greig Cephalopolysyndactyly Syndrome, also known as cephalopolysyndactyly syndrome, is related to polydactyly and synostosis, and has symptoms including macrocephaly, postaxial hand polydactyly and 1-3 toe syndactyly. An important gene associated with Greig Cephalopolysyndactyly Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways are Hedgehog Pathway and Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include limb, head and face.

Disease Ontology:11 An acrocephalosyndactylia that has material basis in mutation in the gli3 gene which results in abnormal development located in limb, located in head, located in face.

UniProtKB/Swiss-Prot:68 Greig cephalo-poly-syndactyly syndrome: Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.

Genetics Home Reference:24 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability.

OMIM:50 Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated... (175700) more...

Wikipedia:69 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and... more...

GeneReviews summary for NBK1446

Related Diseases for Greig Cephalopolysyndactyly Syndrome

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Graphical network of diseases related to Greig Cephalopolysyndactyly Syndrome:



Diseases related to greig cephalopolysyndactyly syndrome

Symptoms for Greig Cephalopolysyndactyly Syndrome

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Symptoms by clinical synopsis from OMIM:

175700

Clinical features from OMIM:

175700

Symptoms:

 52 (show all 22)
  • hydrocephalus
  • macrocephaly
  • hypertelorism
  • high forehead
  • wide nasal bridge
  • telecanthus
  • congenital diaphragmatic hernia
  • postaxial hand polydactyly
  • preaxial hand polydactyly
  • seizures
  • intellectual disability, mild
  • agenesis of corpus callosum
  • craniosynostosis
  • umbilical hernia
  • toe syndactyly
  • postaxial foot polydactyly
  • preaxial foot polydactyly
  • frontal bossing
  • accelerated skeletal maturation
  • finger syndactyly
  • broad hallux phalanx
  • broad thumb

HPO human phenotypes related to Greig Cephalopolysyndactyly Syndrome:

(show all 50)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 postaxial hand polydactyly hallmark (90%) HP:0001162
3 1-3 toe syndactyly hallmark (90%) HP:0001459
4 preaxial foot polydactyly hallmark (90%) HP:0001841
5 broad hallux 89% HP:0010055
6 wide nasal bridge 79% HP:0000431
7 postaxial hand polydactyly 78% HP:0001162
8 high forehead 70% HP:0000348
9 frontal bossing 58% HP:0002007
10 macrocephaly 53% HP:0000256
11 hypertelorism typical (50%) HP:0000316
12 high forehead typical (50%) HP:0000348
13 abnormality of the nose typical (50%) HP:0000366
14 telecanthus typical (50%) HP:0000506
15 toe syndactyly typical (50%) HP:0001770
16 preaxial foot polydactyly typical (50%) HP:0001841
17 frontal bossing typical (50%) HP:0002007
18 accelerated skeletal maturation typical (50%) HP:0005616
19 finger syndactyly typical (50%) HP:0006101
20 3-4 finger syndactyly frequent (33%) HP:0006097
21 broad hallux phalanx frequent (33%) HP:0010059
22 broad thumb frequent (33%) HP:0011304
23 inguinal hernia occasional (7.5%) HP:0000023
24 cryptorchidism occasional (7.5%) HP:0000028
25 hypospadias occasional (7.5%) HP:0000047
26 hydrocephalus occasional (7.5%) HP:0000238
27 delayed cranial suture closure occasional (7.5%) HP:0000270
28 downslanted palpebral fissures occasional (7.5%) HP:0000494
29 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
30 hirsutism occasional (7.5%) HP:0001007
31 preaxial hand polydactyly occasional (7.5%) HP:0001177
32 seizures occasional (7.5%) HP:0001250
33 intellectual disability, mild occasional (7.5%) HP:0001256
34 agenesis of corpus callosum occasional (7.5%) HP:0001274
35 craniosynostosis occasional (7.5%) HP:0001363
36 umbilical hernia occasional (7.5%) HP:0001537
37 abnormal heart morphology occasional (7.5%) HP:0001627
38 postaxial foot polydactyly occasional (7.5%) HP:0001830
39 camptodactyly of toe occasional (7.5%) HP:0001836
40 preaxial foot polydactyly occasional (7.5%) HP:0001841
41 hyperglycemia occasional (7.5%) HP:0003074
42 abnormality of muscle fibers occasional (7.5%) HP:0004303
43 accelerated skeletal maturation occasional (7.5%) HP:0005616
44 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
45 joint contracture of the hand occasional (7.5%) HP:0009473
46 cognitive impairment occasional (7.5%) HP:0100543
47 postaxial foot polydactyly rare (5%) HP:0001830
48 metopic synostosis rare (5%) HP:0011330
49 trigonocephaly HP:0000243
50 dolichocephaly HP:0000268

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

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Drugs for Greig Cephalopolysyndactyly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404

Search NIH Clinical Center for Greig Cephalopolysyndactyly Syndrome


Cochrane evidence based reviews: greig cephalopolysyndactyly syndrome

Genetic Tests for Greig Cephalopolysyndactyly Syndrome

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Genetic tests related to Greig Cephalopolysyndactyly Syndrome:

id Genetic test Affiliating Genes
1 Greig Cephalopolysyndactyly Syndrome25 23 GLI3

Anatomical Context for Greig Cephalopolysyndactyly Syndrome

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MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

34
Eye, Skin, Bone, Heart

FMA organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

17
Limb, Head, Face

Animal Models for Greig Cephalopolysyndactyly Syndrome or affiliated genes

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Publications for Greig Cephalopolysyndactyly Syndrome

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Articles related to Greig Cephalopolysyndactyly Syndrome:

(show all 30)
idTitleAuthorsYear
1
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. (25714367)
2015
2
Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report. (25297527)
2014
3
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. (25606469)
2014
4
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. (24222286)
2013
5
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. (21326280)
2011
6
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. (22043488)
2011
7
Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. (19933491)
2009
8
The clinical atlas of Greig cephalopolysyndactyly syndrome. (18241058)
2008
9
The Greig cephalopolysyndactyly syndrome. (18435847)
2008
10
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). (16829355)
2006
11
Greig cephalopolysyndactyly syndrome in a family. (16927636)
2006
12
Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations. (16912002)
2006
13
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. (12575660)
2003
14
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. (12794692)
2003
15
A Turkish family with Greig cephalopolysyndactyly syndrome. (10770668)
1999
16
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. (9520255)
1997
17
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. (8985483)
1996
18
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. (8205322)
1994
19
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. (8001967)
1994
20
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. (8387379)
1993
21
Greig Cephalopolysyndactyly Syndrome (20301619)
1993
22
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). (1322743)
1992
23
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. (1662666)
1991
24
The occurrence of a fibro-osseous lesion and multiple dental anomalies in a patient with the Greig cephalopolysyndactyly syndrome. (2847100)
1988
25
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). (3239570)
1988
26
The Greig cephalopolysyndactyly syndrome. (3025136)
1986
27
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. (3901752)
1985
28
Greig cephalopolysyndactyly syndrome. Report of a sporadic case. (3007398)
1985
29
The Greig cephalopolysyndactyly syndrome in a Canadian family. (6295159)
1982
30
Greig cephalopolysyndactyly syndrome. (223435)
1979

Variations for Greig Cephalopolysyndactyly Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

68
id Symbol AA change Variation ID SNP ID
1GLI3p.Cys515GlyVAR_010053
2GLI3p.Cys520TyrVAR_010054
3GLI3p.Pro707SerVAR_010055rs121917716
4GLI3p.Ile808MetVAR_010056rs62622373
5GLI3p.Arg625TrpVAR_021481rs121917712
6GLI3p.Ala934ProVAR_021482rs28933372

Clinvar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GLI3GLI3, DELdeletionPathogenic
2GLI3NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter)single nucleotide variantPathogenicrs121917711GRCh37Chr 7, 42018218: 42018218
3GLI3NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp)single nucleotide variantPathogenicrs121917712GRCh37Chr 7, 42012166: 42012166
4GLI3NM_000168.5(GLI3): c.868C> T (p.Arg290Ter)single nucleotide variantPathogenicrs121917713GRCh37Chr 7, 42079797: 42079797
5GLI3NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter)single nucleotide variantPathogenicrs121917714GRCh37Chr 7, 42007251: 42007251
6GLI3NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter)single nucleotide variantPathogenicrs121917715GRCh37Chr 7, 42063078: 42063078
7GLI3NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser)single nucleotide variantPathogenicrs121917716GRCh37Chr 7, 42007506: 42007506
8GLI3GLI3, 4-BP DEL, 4542CCACdeletionPathogenic
9GLI3GLI3, 1-BP DEL, 1018AdeletionPathogenic

Copy number variations for Greig Cephalopolysyndactyly Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
122504874196707242243321DeletionGLI3Greig cephalo-polysyndactyly syndrome
222514774330000046600000Copy numberGLI3Greig cephalo-polysyndactyly syndrome

Expression for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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Search GEO for disease gene expression data for Greig Cephalopolysyndactyly Syndrome.

Pathways for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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GO Terms for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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Cellular components related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1primary ciliumGO:007237210.0GLI2, GLI3
2ciliary baseGO:00975469.9GLI2, GLI3
3axonemeGO:00059309.7GLI2, GLI3
4ciliary tipGO:00975429.5GLI2, GLI3, KIF7
5ciliumGO:00059299.2GLI2, GLI3, KIF7
6cytosolGO:00058297.6ACY1, GCK, GLI2, GLI3, PGAM2

Biological processes related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1tube developmentGO:003529510.1GLI2, GLI3
2smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:002177510.1GLI2, GLI3
3smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:002177610.1GLI2, GLI3
4spinal cord dorsal/ventral patterningGO:002151310.1GLI2, GLI3
5negative regulation of smoothened signaling pathwayGO:004587910.0GLI3, KIF7
6smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.0GLI2, GLI3
7hindgut morphogenesisGO:000744210.0GLI2, GLI3
8anatomical structure developmentGO:004885610.0GLI2, GLI3
9spinal cord motor neuron differentiationGO:00215229.9GLI2, GLI3
10branching morphogenesis of an epithelial tubeGO:00487549.9GLI2, GLI3
11mammary gland developmentGO:00308799.9GLI2, GLI3
12embryonic digestive tract developmentGO:00485669.8GLI2, GLI3
13embryonic digit morphogenesisGO:00427339.8GLI2, GLI3
14neural tube developmentGO:00219159.8GLI2, GLI3
15kidney developmentGO:00018229.8GLI2, GLI3
16anterior/posterior pattern specificationGO:00099529.7GLI2, GLI3
17developmental growthGO:00485899.7GLI2, GLI3
18canonical glycolysisGO:00616219.7GCK, PGAM2
19lung developmentGO:00303249.7GLI2, GLI3
20proximal/distal pattern formationGO:00099549.6GLI2, GLI3
21odontogenesis of dentin-containing toothGO:00424759.6GLI2, GLI3
22pattern specification processGO:00073899.6GLI2, GLI3
23glycolytic processGO:00060969.5GCK, PGAM2
24smoothened signaling pathwayGO:00072249.4GLI2, GLI3
25dorsal/ventral pattern formationGO:00099539.4GLI2, GLI3
26anatomical structure formation involved in morphogenesisGO:00486469.1GLI2, GLI3

Sources for Greig Cephalopolysyndactyly Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet