MCID: GRG001
MIFTS: 52

Greig Cephalopolysyndactyly Syndrome malady

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

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Greig Cephalopolysyndactyly Syndrome:

Name: Greig Cephalopolysyndactyly Syndrome 51 11 23 47 24 25 53 26 12 49 38 13
Gcps 47 25 53 69
Cephalopolysyndactyly Syndrome 23 24 25
Greig Syndrome 47 24
 
Polysyndactyly with Peculiars Skull Shape 11
Polysyndactyly with Peculiar Skull Shape 47
Greig Cephalo-Poly-Syndactyly Syndrome 69
Aarskog Syndrome 67

Characteristics:

Orphanet epidemiological data:

53
greig cephalopolysyndactyly syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal

HPO:

63
greig cephalopolysyndactyly syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity

GeneReviews:

23
Penetrance: one case of apparent non-penetrance has been reported [debeer et al 2003]. it is difficult to estimate a rate of non-penetrance from a single instance, but it is probably a small fraction...


Classifications:



External Ids:

OMIM51 175700
Disease Ontology11 DOID:14761
MeSH38 C537300
NCIt44 C35255
Orphanet53 ORPHA380
SNOMED-CT61 32985001
MESH via Orphanet39 C537300
UMLS via Orphanet68 C0265306
ICD10 via Orphanet30 Q87.0
MedGen36 C0265306

Summaries for Greig Cephalopolysyndactyly Syndrome

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NIH Rare Diseases:47 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 gcps, is related to imperforate anus and foramen magnum meningioma, 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 Central carbon metabolism in cancer. 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:69 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:25 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, delayed development, and intellectual disability.

OMIM:51 Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated... (175700) more...

Wikipedia:70 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and... more...

GeneReviews for NBK1446

Related Diseases for Greig Cephalopolysyndactyly Syndrome

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Graphical network of the top 20 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

Human phenotypes related to Greig Cephalopolysyndactyly Syndrome:

 63 53 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
2 postaxial hand polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001162
3 1-3 toe syndactyly63 hallmark (90%) HP:0001459
4 preaxial foot polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001841
5 broad hallux63 89% HP:0010055
6 wide nasal bridge63 53 79% Frequent (79-30%) HP:0000431
7 high forehead63 53 70% Frequent (79-30%) HP:0000348
8 frontal bossing63 53 58% Frequent (79-30%) HP:0002007
9 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
10 abnormality of the nose63 typical (50%) HP:0000366
11 telecanthus63 53 typical (50%) Frequent (79-30%) HP:0000506
12 toe syndactyly63 53 typical (50%) Frequent (79-30%) HP:0001770
13 accelerated skeletal maturation63 53 typical (50%) Frequent (79-30%) HP:0005616
14 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
15 3-4 finger syndactyly63 frequent (33%) HP:0006097
16 broad hallux phalanx63 53 frequent (33%) Occasional (29-5%) HP:0010059
17 broad thumb63 53 frequent (33%) Occasional (29-5%) HP:0011304
18 inguinal hernia63 occasional (7.5%) HP:0000023
19 cryptorchidism63 occasional (7.5%) HP:0000028
20 hypospadias63 occasional (7.5%) HP:0000047
21 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
22 delayed cranial suture closure63 occasional (7.5%) HP:0000270
23 downslanted palpebral fissures63 occasional (7.5%) HP:0000494
24 congenital diaphragmatic hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0000776
25 hirsutism63 occasional (7.5%) HP:0001007
26 preaxial hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001177
27 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
28 intellectual disability, mild63 53 occasional (7.5%) Occasional (29-5%) HP:0001256
29 agenesis of corpus callosum63 53 occasional (7.5%) Occasional (29-5%) HP:0001274
30 craniosynostosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001363
31 umbilical hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0001537
32 abnormal heart morphology63 occasional (7.5%) HP:0001627
33 postaxial foot polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001830
34 camptodactyly of toe63 occasional (7.5%) HP:0001836
35 hyperglycemia63 occasional (7.5%) HP:0003074
36 abnormality of muscle fibers63 occasional (7.5%) HP:0004303
37 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
38 joint contracture of the hand63 occasional (7.5%) HP:0009473
39 cognitive impairment63 occasional (7.5%) HP:0100543
40 metopic synostosis63 rare (5%) HP:0011330
41 trigonocephaly63 HP:0000243
42 dolichocephaly63 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
Mentholapproved23532216-51-516666
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 Syndrome26 24 GLI3

Anatomical Context for Greig Cephalopolysyndactyly Syndrome

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MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

35
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:

69
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, DELdeletionPathogenicChr na, -1: -1
2GLI3NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter)SNVPathogenicrs121917711GRCh37Chr 7, 42018218: 42018218
3GLI3NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp)SNVPathogenicrs121917712GRCh37Chr 7, 42012166: 42012166
4GLI3NM_000168.5(GLI3): c.868C> T (p.Arg290Ter)SNVPathogenicrs121917713GRCh37Chr 7, 42079797: 42079797
5GLI3NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter)SNVPathogenicrs121917714GRCh37Chr 7, 42007251: 42007251
6GLI3NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter)SNVPathogenicrs121917715GRCh37Chr 7, 42063078: 42063078
7GLI3NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser)SNVPathogenicrs121917716GRCh37Chr 7, 42007506: 42007506
8GLI3GLI3, 4-BP DEL, 4542CCACdeletionPathogenicChr na, -1: -1
9GLI3GLI3, 1-BP DEL, 1018AdeletionPathogenicChr na, -1: -1

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
1ciliary baseGO:009754610.0GLI2, GLI3
2axonemeGO:00059309.5GLI2, GLI3
3ciliary tipGO:00975429.5GLI2, GLI3, KIF7
4ciliumGO:00059298.9GLI2, GLI3, KIF7
5cytosolGO: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 spinal cord motor neuron cell fate specificationGO:002177610.1GLI2, GLI3
3smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:002177510.1GLI2, 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
11embryonic digestive tract developmentGO:00485669.8GLI2, GLI3
12neural tube developmentGO:00219159.8GLI2, GLI3
13mammary gland developmentGO:00308799.8GLI2, GLI3
14embryonic digit morphogenesisGO:00427339.8GLI2, GLI3
15anterior/posterior pattern specificationGO:00099529.8GLI2, GLI3
16kidney developmentGO:00018229.8GLI2, GLI3
17dorsal/ventral pattern formationGO:00099539.7GLI2, GLI3
18pattern specification processGO:00073899.7GLI2, GLI3
19canonical glycolysisGO:00616219.7GCK, PGAM2
20smoothened signaling pathwayGO:00072249.7GLI2, GLI3
21odontogenesis of dentin-containing toothGO:00424759.6GLI2, GLI3
22lung developmentGO:00303249.4GLI2, GLI3
23glycolytic processGO:00060969.4GCK, PGAM2
24developmental growthGO:00485899.4GLI2, GLI3
25anatomical structure formation involved in morphogenesisGO:00486469.3GLI2, GLI3
26proximal/distal pattern formationGO:00099549.1GLI2, GLI3

Sources for Greig Cephalopolysyndactyly Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet