MCID: THN010
MIFTS: 49

Thanatophoric Dysplasia, Type Ii malady

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

Aliases & Classifications for Thanatophoric Dysplasia, Type Ii

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Aliases & Descriptions for Thanatophoric Dysplasia, Type Ii:

Name: Thanatophoric Dysplasia, Type Ii 51 12
Cloverleaf Skull-Micromelic Bone Dysplasia Syndrome 47 53 26
Thanatophoric Dysplasia Type Ii 47 24 69
Td2 47 53 69
Thanatophoric Dwarfism-Cloverleaf Skull Syndrome 47 53
Thanatophoric Dysplasia with Kleeblattschaedel 47 69
Cloverleaf Skull with Thanatophoric Dwarfism 47 69
 
Thanatophoric Dysplasia Type 2 47 53
Thanatophoric Dwarfism Type 2 47 53
Thanatophoric Dysplasia 2 69 26
Thanatophoric Dysplasia with Straight Femurs and Cloverleaf Skull 69
Thanatophoric Dwarfism - Cloverleaf Skull 47
Thanatophoric Dysplasia, Type 2 67
Tdii 24

Characteristics:

Orphanet epidemiological data:

53
cloverleaf skull-micromelic bone dysplasia syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

63
thanatophoric dysplasia, type ii:
Inheritance: autosomal dominant inheritance
Mortality/Aging: neonatal death

Classifications:



External Ids:

OMIM51 187601
Orphanet53 ORPHA93274
ICD10 via Orphanet30 Q77.1
MedGen36 C1300257
MeSH38 D013796

Summaries for Thanatophoric Dysplasia, Type Ii

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OMIM:51 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman... (187601) more...

MalaCards based summary: Thanatophoric Dysplasia, Type Ii, also known as cloverleaf skull-micromelic bone dysplasia syndrome, is related to thanatophoric dysplasia, type i and encephalocele, and has symptoms including macrocephaly, malar flattening and narrow chest. An important gene associated with Thanatophoric Dysplasia, Type Ii is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Signaling by FGFR2 in disease and Pathways in cancer. Affiliated tissues include bone, skin and kidney, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

UniProtKB/Swiss-Prot:69 Thanatophoric dysplasia 2: A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull.

Related Diseases for Thanatophoric Dysplasia, Type Ii

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Diseases in the Thanatophoric Dysplasia, Type I family:

thanatophoric dysplasia, type ii

Diseases related to Thanatophoric Dysplasia, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type i10.8
2encephalocele10.0
3achondroplasia9.9
4holoprosencephaly9.9
5hydrocephalus9.9
6choroiditis9.9
7dwarfism9.9
8skeletal dysplasias9.9
9skeletal dysplasia9.9
10semilobar holoprosencephaly9.9
11crouzon syndrome with acanthosis nigricans9.7FGFR3, STAT1
12saddan8.8FGFR3, SPRY2, STAT1

Graphical network of diseases related to Thanatophoric Dysplasia, Type Ii:



Diseases related to thanatophoric dysplasia, type ii

Symptoms for Thanatophoric Dysplasia, Type Ii

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Symptoms by clinical synopsis from OMIM:

187601

Clinical features from OMIM:

187601

Human phenotypes related to Thanatophoric Dysplasia, Type Ii:

 63 53 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
2 malar flattening63 hallmark (90%) HP:0000272
3 narrow chest63 53 hallmark (90%) Very frequent (99-80%) HP:0000774
4 platyspondyly63 53 hallmark (90%) Very frequent (99-80%) HP:0000926
5 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
6 cutis laxa63 hallmark (90%) HP:0000973
7 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
8 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
9 respiratory insufficiency63 53 hallmark (90%) Very frequent (99-80%) HP:0002093
10 skeletal dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0002652
11 cloverleaf skull63 53 hallmark (90%) Very frequent (99-80%) HP:0002676
12 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
13 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
14 aplasia/hypoplasia of the lungs63 53 hallmark (90%) Very frequent (99-80%) HP:0006703
15 limb undergrowth63 hallmark (90%) HP:0009826
16 short thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0010306
17 cognitive impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0100543
18 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
19 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
20 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
21 polyhydramnios63 53 typical (50%) Frequent (79-30%) HP:0001561
22 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
23 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
24 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
25 increased nuchal translucency63 53 typical (50%) Frequent (79-30%) HP:0010880
26 abnormality of the kidney63 53 occasional (7.5%) Occasional (29-5%) HP:0000077
27 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
28 acanthosis nigricans63 53 occasional (7.5%) Occasional (29-5%) HP:0000956
29 holoprosencephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001360
30 limitation of joint mobility63 53 occasional (7.5%) Occasional (29-5%) HP:0001376
31 atria septal defect63 occasional (7.5%) HP:0001631
32 patent ductus arteriosus63 53 occasional (7.5%) Occasional (29-5%) HP:0001643
33 encephalocele63 53 occasional (7.5%) Occasional (29-5%) HP:0002084
34 abnormality of neuronal migration63 53 occasional (7.5%) Occasional (29-5%) HP:0002269
35 micromelia63 53 Very frequent (99-80%) HP:0002983
36 small face63 HP:0000274
37 short ribs63 HP:0000773
38 wide-cupped costochondral junctions63 HP:0000910
39 hypoplastic ilia63 HP:0000946
40 decreased fetal movement63 HP:0001558
41 small foramen magnum63 HP:0002677
42 flared metaphysis63 HP:0003015
43 metaphyseal irregularity63 HP:0003025
44 short sacroiliac notch63 HP:0003185
45 small abnormally formed scapulae63 HP:0006584
46 lethal short-limbed short stature63 HP:0008909
47 redundant skin53 Very frequent (99-80%)
48 defect in the atrial septum53 Occasional (29-5%)
49 joint hyperflexibility53 Very frequent (99-80%)
50 flat face53 Very frequent (99-80%)

Drugs & Therapeutics for Thanatophoric Dysplasia, Type Ii

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Drugs for Thanatophoric Dysplasia, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LinagliptinapprovedPhase 4137668270-12-010096344
Synonyms:
(R)-8-(3-Amino-piperidin-1-yl)-7-but-2-ynyl-3-methyl-1-(4-methyl-quinazolin-2-ylmethyl)-3,7-dihydro-purine-2,6-dione
(R)-8-(3-Aminopiperidin-1-yl)-7-but-2-ynyl-3-methyl-1-(4-methylquinazolin-2-ylmethyl)-3,7-dihydro-purine-2,6-dione
668270-12-0
BI 1356
BI-1356
BI-1356-BS
CHEBI:49403
 
CHEBI:499873
CHEMBL237500
CID 10096344
CID10096344
Linagliptin
Ondero
Tradjenta
Trajenta
2
Olanzapineapproved, investigationalPhase 4395132539-06-14585
Synonyms:
132539-06-1
2-Methyl-4-(4-methyl-1-piperazinyl)-10H-thieno(2,3-b)(1,5)benzodiazepine
2-Methyl-4-(4-methyl-1-piperazinyl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methyl-1-piperazinyl)-10 H -thieno[2,3- b ] [1,5]benzodiazepine
2-methyl-4-(4-methyl-1-piperazinyl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-10H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-5H-thieno[2,3-b][1,5]benzodiazepine
2-methyl-4-(4-methylpiperazin-1-yl)-5H-thieno[3,2-c][1,5]benzodiazepine
AC-665
AC1L1IHS
AKOS000282888
ALKS-7921
BIDD:GT0332
BIDD:PXR0138
Bio-0169
C07322
C076029
C17H20N4S
CHEBI:7735
CHEMBL715
CID4585
CPD000466345
D00454
DB00334
Eli Lilly brand of olanzapine
HMS2051H05
HMS2089M04
HMS2093I04
I06-0784
InChI=1/C17H20N4S/c1-12-11-13-16(21-9-7-20(2)8-10-21)18-14-5-3-4-6-15(14)19-17(13)22-12/h3-6,11,19H,7-10H2,1-2H
InChI=1/C17H20N4S/c1-12-11-13-16(21-9-7-20(2)8-10-21)18-14-5-3-4-6-15(14)19-17(13)22-12/h3-6,11,19H,7-10H2,1-2H3
Jsp001969
KS-1090
L000455
L005958
LS-152313
LY 170053
LY-170052
 
LY-170053
Lanzac
Lilly brand of olanzapine
MLS000759457
MLS001165781
MLS001195646
MLS001424057
Midax
MolPort-002-885-845
MolPort-003-666-569
MolPort-005-977-341
NCGC00096077-01
NCGC00096077-03
NCGC00096077-04
Olansek
Olanzapin
Olanzapina
Olanzapine
Olanzapine (JAN/USAN/INN)
Olanzapine (OLA)
Olanzapine [USAN:INN]
Olanzapinum
S2493_Selleck
SAM001246652
SMR000466345
SPECTRUM1505024
STK634338
Symbyax
TL8000772
UNII-N7U69T4SZR
Zalasta
Zydis
Zyprexa
Zyprexa (TN)
Zyprexa Intramuscular
Zyprexa Velotab
Zyprexa Zydis
olanzapina
olanzapine
olanzapinum
3
BenzocaineapprovedPhase 418921994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
4
DopamineapprovedPhase 4375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
5tannic acidapproved, NutraceuticalPhase 41892
6Neurotransmitter Uptake InhibitorsPhase 43464
7Neurotransmitter AgentsPhase 4, Phase 217734
8Peripheral Nervous System AgentsPhase 4, Phase 222776
9Gastrointestinal AgentsPhase 48109
10Dipeptidyl-Peptidase IV InhibitorsPhase 4846
11sultopridePhase 448
12Tranquilizing AgentsPhase 44164
13Serotonin Uptake InhibitorsPhase 41570
14Serotonin AgentsPhase 43102
15
SerotoninPhase 4356650-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
16Dopamine AntagonistsPhase 41083
17Psychotropic DrugsPhase 46279
18Hormone AntagonistsPhase 412778
19HormonesPhase 413979
20HIV Protease InhibitorsPhase 45319
21Glucagon-Like Peptide 1Phase 4694
22Dopamine AgentsPhase 43759
23Hypoglycemic AgentsPhase 4, Phase 25733
24Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
25IncretinsPhase 41537
26Central Nervous System DepressantsPhase 412806
27Antipsychotic AgentsPhase 42359
28Autonomic AgentsPhase 4, Phase 29774
29AntiemeticsPhase 43888
30
protease inhibitorsPhase 45320
Synonyms:
 
protease inhibitors
31
Tenofovirapproved, investigationalPhase 2733147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-9-(2-phosphonomethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
 
HHA & Tenofovir
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
32
NevirapineapprovedPhase 2222129618-40-24463
Synonyms:
11-CYCLOPROPYL-5,11-DIHYDRO-4-METHYL-6H-DIPYRIDO[3,2-B:2',3'-E][1,4]DIAZEPIN-6-ONE
11-Cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[2,3-e:3',2'-b][1,4]diazepin-6-one
11-Cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[2,3-e:3',2'-b][1,4]diazepin-6-one & PRO 140 (Anti-CCR5 monoclonal antibody)
11-Cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e][1,4]diazepin-6-one
11-Cyclopropyl-5,11-dihydro-4-methyl-6H-dipyrido(3,2-b:2',3'-e)(1,4)diazepin-6-one
129618-40-2
1vrt
2hny
AC-643
AC1L1I81
BI RG 587
BI-RG-587
BI-RG-587 & CD4-IgG
BIDD:GT0326
BIRG 0587
BIRG 587
BIRG-0587
BIRG-587
BIRG587
Bio-0789
C07263
C15H14N4O
CHEBI:44659
CHEMBL57
CID4463
CPD000048458
Cahill May Roberts Brand of Nevirapine
D00435
D019829
DB00238
DB08311
 
HMS2051J09
HSDB 7164
I02-0310
LS-2289
MLS000084585
MLS000759409
MLS001055309
MLS001201730
MolPort-002-507-817
N11-Cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e]-[1,4]diazepin-6-one & CD4-immunoadhesin
NCGC00065890-02
NEV
NON-NUCLEOSIDE RT INHIBITOR NEVIRAPINE
NSC 641530
NSC641530
NVP
Nevirapine
Nevirapine & CD4-IgG
Nevirapine & PRO 140
Nevirapine (JAN/USP/INN)
Nevirapine [USAN:INN]
Promeco Brand of Nevirapine
S1742_Selleck
SAM001246551
SMR000048458
STK580320
UNII-99DK7FVK1H
Viramune
Viramune (TN)
Viramune(TM)
Viramune, BI-RG 587, Nevirapine
ZINC00004778
nevirapine
33
Emtricitabineapproved, investigationalPhase 2439143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
34
NicotineapprovedPhase 2105054-11-5942, 89594
Synonyms:
(−
(+)-Nicotine
(-)-3-(1-Methyl-2-pyrrolidyl)pyridine
(-)-3-(N-Methylpyrrolidino)pyridine
(-)-Nicotine
(-)-Nicotine solution
(2S) 3-(1-Methyl-pyrrolidin-2-yl)-pyridine
(R)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(R,S)-Nicotine
(S)-(-)-NICOTINE, 3-[(2S)-1-METHYL-2-PYRROLIDINYL] PYRIDINE
(S)-(-)-Nicotine
(S)-(−)-nicotine
(S)-3-(1-methylpyrrolidin-2-yl)pyridine
(S)-3-(N-methylpyrrolidin-2-yl)pyridine
(S)-Nicotine
(−)-nicotine
)-1-Methyl-2-(3-pyridyl)pyrrolidine
)-Nicotine
)-Nicotine solution
1-Methyl-2-(3-pyridal)-Pyrrolidine
1-Methyl-2-(3-pyridal)-pyrrolidene
1-Methyl-2-(3-pyridiyl)pyrrolidine
1-Methyl-2-(3-pyridyl)pyrrolidine
1uw6
2'-beta-H-Nicotine
3-(1-Methyl-2-pyrollidinyl)pyridine
3-(1-Methyl-2-pyrrolidinyl)-Pyridine
3-(1-Methyl-2-pyrrolidinyl)pyridine
3-(1-Methylpyrrolidin-2-yl)pyridine
3-(2-(N-methylpyrrolidinyl))pyridine
3-(N-Methylpyrollidino)pyridine
3-(N-Methylpyrrolidino)pyridine
3-(N-methylpyrollidino)pyridine
3-N-Methylpyrrolidine
3-[(2S)-1-methylpyrrolidin-2-yl]pyridine
36733_FLUKA
36733_RIEDEL
434F7990-3240-4A43-ACEC-E6CC1E495FA0
46343_FLUKA
46343_RIEDEL
54-11-5
AC1L3I79
AC1Q3ZOC
AI3-03424
BB_NC-0777
BIDD:GT0599
BRD-K05395900-322-02-1
Black Leaf
Black Leaf 40
C00745
CCRIS 1637
CHEBI:17688
CHEMBL3
CID89594
CPD000059074
Campbell's Nico-Soap
Caswell No. 597
Commit
D-Nicotine
D03365
DL-tetrahydronicotyrine
Destruxol
Destruxol Orchid Spray
EINECS 200-193-3
ENT 3,424
EPA Pesticide Chemical Code 056702
Emo-Nik
Flux Maag
Fumeto bac
Fumetobac
HSDB 1107
Habitrol
Habitrol (TN)
L(-)-nicotine
L(−)-nicotine
L-3-(1-Methyl-2-pyrrolidyl)pyridine
 
L-Nicotine
LS-202
MLS001055457
MLS001335905
Mach-Nic
Methyl-2-pyrrolidinyl)pyridine
Micotine
MolPort-000-744-731
N3876_SIGMA
N5511_FLUKA
N5511_SIGMA
NCGC00090693-01
NCGC00090693-02
NCGC00090693-03
NCGC00090693-04
NCGC00090693-05
NCGC00090693-06
NCGC00090693-07
NCT
NICOTINE AND SALTS
NSC 5065
NSC97238
Niagara P.A. Dust
Nic-Sal
Nico-Dust
Nico-Fume
Nicocide
Nicoderm
Nicoderm Cq
Nicoderm Patch
Nicorette
Nicorette Plus
Nicotin
Nicotina
Nicotina [Italian]
Nicotine
Nicotine (USP)
Nicotine (compounds related to)
Nicotine Alkaloid
Nicotine Patch
Nicotine Polacrilex
Nicotine [BSI:ISO]
Nicotine [UN1654]
Nicotine [UN1654] [Poison]
Nicotine [USAN]
Nicotrol
Nicotrol Inhaler
Nicotrol Ns
Nictoine patch
Nikotin
Nikotin [German]
Nikotyna
Nikotyna [Polish]
Ortho N-4 Dust
Ortho N-5 Dust
PDSP1_000113
PDSP1_000465
PDSP2_000463
PDSP2_000555
Prostep
R)-(+)-Nicotine
RCRA waste no. P075
RCRA waste number P075
SAM002564224
SDCCGMLS-0066911.P001
SMR000059074
Tendust
Transdermal Nicotine
UN1654
a -N-Methylpyrrolidine
a-N-Methylpyrrolidine
alpha-N-Methylpyrrolidine
beta-Pyridyl-alpha-N-methyl pyrrolidine
beta-Pyridyl-alpha-N-methylpyrrolidine
bmse000105
delta-Nicotine
nicotine
nicotine replacement patch
35
ZidovudineapprovedPhase 249430516-87-135370
Synonyms:
-Azido-3&prime
-deoxythymidine
1-(3-Azido-2,3-dideoxy-beta-D-ribofuranosyl)thymine
3&prime
3' Azido 2',3' Dideoxythymidine
3' Azido 3' deoxythymidine
3'-Azido-2',3'-Dideoxythymidine
3'-Azido-3'-deoxythymidine
3'-Azido-3'-deoxythymidine & Concanavalin A
3'-Azido-3'-deoxythymidine & Erythropoietin
3'-Azido-3'-deoxythymidine & Heteropolyoxotungstate PM-19
3'-Azido-3'-deoxythymidine & Interleukin-1
3'-Azido-3'-deoxythymidine & Interleukin-2
3'-Azido-3'-deoxythymidine & Interleukin-6
3'-Azido-3'-deoxythymidine & Lithium & Erythropoietin
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-1
3'-Azido-3'-deoxythymidine & Lithium & Interleukin-6
3'-Azido-3'-deoxythymidine & Lymphoblastoid Interferon
3'-Azido-3'-deoxythymidine & Sho-Saiko-To
3'-Azido-3'-deoxythymidine (AIDS)
3'-Azido-3'deoxythymidine & Interferon .alpha.
3'-Azidothymidine
3'-Deoxy-3'-azidothymidine
3'-azido-3'-deoxythymidine, AZT
3-Azido-3-deoxythymidine
30516-87-1
399024-19-2
A2169_SIGMA
AC1L1TKL
AC1Q2OEK
AZT
AZT & CD4(178)-PE 40
AZT & Colony-stimulating factor 2
AZT & Concanavalin A (ConA)
AZT & EPO
AZT & GM-CSF
AZT & HPA
AZT & IFN.alpha.
AZT & IL-1
AZT & IL-2
AZT & IL-6
AZT & Interferon-.alpha.-2
AZT & Li & EPO
AZT & Li & GM-CSF
AZT & Li & IL-1
AZT & Li & IL-6
AZT & Lymphoblastoid Interferon
AZT & NP (from PHCA or HSA)
AZT & PM-19
AZT & SST
AZT & rIFN.alpha.2
AZT & rsCD4 & rIFN.alpha.A
AZT & rsT4
AZT & sCD4
AZT & srCD4
AZT (Antiviral)
AZT Antiviral
AZT TRANSPLACENTAL CARCINOGENESIS STUDY
AZT+PRO 140
AZT, Antiviral
Antiviral AZT
Apo-Zidovudine
Azidothymidine
Aztec
BB_NC-1012
BPBio1_000403
BRD-K72903603-001-04-6
BSPBio_000365
BSPBio_003153
BW A509U
BW-A 509U
BW-A-509U
BW-A509U
BWA 509U
BWA-509U
BWA509U
C07210
CCRIS 105
CHEBI:10110
CHEBI:127307
CHEMBL129
CID35370
 
CPD000058351
Compound S
Cpd S
D00413
D015215
DB00495
DRG-0004
DS-4152 & AZT
DivK1c_000524
HMS1921J20
HMS2090G11
HMS2092D06
HMS501K06
HSDB 6515
IDI1_000524
Interferon AD + 3'-azido-3'-deoxythymidine
Intron A & AZT
K7 [P Ti2 W10 O40]
KBio1_000524
KBio2_001828
KBio2_004396
KBio2_006964
KBio3_002653
KBioGR_000703
KBioSS_001828
LS-1159
Liposomal AZT-SN-1
Liposomal AZT-SN-3
MLS000028548
MLS001055351
MLS001076358
MLS002153202
MLS002222249
Met-SDF-1.beta. & AZT
Met-SDF-1.beta. & Zidovudine
MolPort-002-507-286
NCGC00023945-03
NCGC00023945-04
NCGC00023945-05
NCGC00023945-08
NCGC00178237-01
NCGC00178237-02
NINDS_000524
NSC 602670
Novo-Azt
PC-SOD+AZT
Prestwick3_000333
Propolis+AZT
Racemic Liposomal AZT
Retrovir
Retrovir (TN)
Retrovir(TM)
SAM002548971
SMR000058351
SN-1-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SN-3-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
SPBio_000834
SPECTRUM1502109
STK801891
Spectrum2_000927
Spectrum3_001507
Spectrum4_000332
Spectrum5_001101
Spectrum_001348
UNII-4B9XT59T7S
ZDV
ZIDOVUDINE [AZT]
ZINC03779042
ZVD
Zidovudin
Zidovudina
Zidovudina [Spanish]
Zidovudine (JAN/USP/INN)
Zidovudine EP III
Zidovudine [USAN:INN:BAN:JAN]
Zidovudine+PRO 140
Zidovudinum
Zidovudinum [Latin]
antiviral
azidodeoxythymidine
rIFN-beta seron & AZT
racemic-dipalmitoylglycerophospho-AZT (in a lipid vesicle)
zidovudin
zidovudine
36
MetforminapprovedPhase 21746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
37
GlipizideapprovedPhase 23829094-61-93478
Synonyms:
1-Cyclohexyl-3-((p-(2-(5-methylpyrazinecarboxamido)ethyl)phenyl)sulfonyl)urea
1-Cyclohexyl-3-({p-[2-(5-methylpyrazinecarboxamido)ethyl]phenyl}sulfonyl)urea
1-Cyclohexyl-3-{4-[2-(5-methylpyrazine-2-carboxamido)ethyl]phenylsulfonyl}urea
172964-66-8
29094-61-9
29094-66-4
30553_FLUKA
38777-27-4
AC-15789
AC1L1G0Z
AC1Q2OG0
Aldiab
Alphapharm Brand of Glipizide
BIDD:GT0476
BPBio1_000224
BRD-K12219985-001-04-8
BRN 0903495
BSPBio_000202
BSPBio_001349
Bio-0161
Bio1_000074
Bio1_000563
Bio1_001052
Bio2_000069
Bio2_000549
C21H27N5O4S
CAS-29094-61-9
CBiol_001788
CHEBI:239286
CHEMBL1073
CID3478
CP 28,720
CP 28720
CP-28,720
CP-28720
CPD000058455
D00335
D005913
DB01067
Digrin
Dipazide
EINECS 249-427-6
EU-0100621
G-117
G117_SIGMA
Glibenese
Glibenese Brand of Glipizide
Glibetin
Glican
Glide
Glidiab
Glidiazinamide
Glipid
Glipizida
Glipizida [INN-Spanish]
Glipizide (USP/INN)
Glipizide Extended-Release Tablets
Glipizide Kenfarma Brand
Glipizide [USAN:BAN:INN]
Glipizidum
Glipizidum [INN-Latin]
Gluco-Rite
Gluco-rite
Glucolip
Glucotrol
Glucotrol (TN)
Glucotrol XL
Glucotrol XL, Glucotrol, Glipizide
Glucozide
Glupitel
Glupizide
Glyde
Glydiazinamide
Glypidizine
 
HMS1361D11
HMS1568K04
HMS1791D11
HMS1989D11
HMS2089C21
HMS2093J09
I06-0186
I06-1985
IDI1_033819
K 4024
K-4024
K4024
KBio2_000069
KBio2_002637
KBio2_005205
KBio3_000137
KBio3_000138
KBioGR_000069
KBioSS_000069
KS-1068
Kenfarma Brand of Glipizide
LS-159679
Lacer Brand of Glipizide
Lilly Brand of Glipizide
Lopac-G-117
Lopac0_000621
MLS000069386
MLS001148176
Melizide
Metaglip
Mindiab
Minidab
Minidiab
Minodiab
MolPort-002-885-830
MolPort-003-666-685
N-(2-{4-[(cyclohexylcarbamoyl)sulfamoyl]phenyl}ethyl)-5-methylpyrazine-2-carboxamide
N-(4-(beta-(5-Methylpyrazine-2-carboxamido)ethyl)benzenesulphonyl)-N'-cyclohexylurea
N-[2-(4-{[(cyclohexylcarbamoyl)amino]sulfonyl}phenyl)ethyl]-5-methylpyrazine-2-carboxamide
N-[2-[4-(cyclohexylcarbamoylsulfamoyl)phenyl]ethyl]-5-methylpyrazine-2-carboxamide
N-{4-[beta-(5-methylpyrazine-2-carboxamido)ethyl]benzenesulphonyl}-n'-cyclohexylurea
NCGC00015462-01
NCGC00015462-02
NCGC00015462-05
NCGC00015462-11
NCGC00016802-01
NCGC00023748-03
NCGC00023748-04
NCGC00023748-05
NCGC00023748-06
NCGC00023748-07
Napizide
Ozidia
Pfizer Brand 1 of Glipizide
Pfizer Brand 2 of Glipizide
Prestwick0_000131
Prestwick1_000131
Prestwick2_000131
Prestwick3_000131
Prestwick_242
S1715_Selelck
S1715_Selleck
SAM002564210
SMR000058455
SPBio_002141
STK631952
Samarium(III) ionophore I
Semiglynase
Sucrazide
TK 1320
TL8006447
UNII-X7WDT95N5C
ZINC00537795
glipizide
nchembio.128-comp32
38Central Nervous System StimulantsPhase 22132
39Cholinergic AgentsPhase 23846
40Anti-HIV AgentsPhase 23100
41Nicotinic AgonistsPhase 2902
42Anti-Infective AgentsPhase 221402
43Antiviral AgentsPhase 29732
44Anti-Retroviral AgentsPhase 23232
45Nucleic Acid Synthesis InhibitorsPhase 24855
46Reverse Transcriptase InhibitorsPhase 21880
47Cytochrome P-450 CYP3A InducersPhase 21101

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Linagliptin on Active GLP-1 Concentrations in Subjects With Renal ImpairmentCompletedNCT01903070Phase 4
2Tardive Dyskinesia and Cognitive FunctionCompletedNCT00926965Phase 4
3Study to Improve Quality of Care and Patient Health in the Field of Cardiovascular Risk Factors in General PracticeCompletedNCT00348855Phase 4
4Evaluate Efficacy, Safety and Tolerability of AZD1656 as Add-on Treatment to Metformin in Type 2 Diabetes Mellitus (TD2M) PatientsCompletedNCT01020123Phase 2
5Maternal TDF and FTC to Reduce NNRTI Resistance Mutations After Intrapartum NVPCompletedNCT00204308Phase 2
6Nicotine Patch Safety StudyCompletedNCT01655082Phase 2
7Study of Minnelide™ in Patients With Advanced GI TumorsActive, not recruitingNCT01927965Phase 1
8A Study of TRK-950 in Patients With Advanced Solid TumorsNot yet recruitingNCT02990481Phase 1
9Genetic Markers and Proliferative Diabetic RetinopathyRecruitingNCT02879422
10HIIE and Abdominal Fat Mass in DT2 Postmenopausal WomenNot yet recruitingNCT02352246

Search NIH Clinical Center for Thanatophoric Dysplasia, Type Ii

Genetic Tests for Thanatophoric Dysplasia, Type Ii

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Genetic tests related to Thanatophoric Dysplasia, Type Ii:

id Genetic test Affiliating Genes
1 Thanatophoric Dysplasia, Type 226
2 Micromelic Bone Dysplasia with Cloverleaf Skull26
3 Thanatophoric Dysplasia Type Ii24 FGFR3

Anatomical Context for Thanatophoric Dysplasia, Type Ii

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MalaCards organs/tissues related to Thanatophoric Dysplasia, Type Ii:

35
Bone, Skin, Kidney, Lung

Animal Models for Thanatophoric Dysplasia, Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type Ii:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3FGFR3, SPRY2, STAT1
2MP:00053719.3FGFR3, SPRY2, STAT1
3MP:00020069.2FGFR3, SPRY2, STAT1
4MP:00053918.5FGFR3, SPRY2, STAT1

Publications for Thanatophoric Dysplasia, Type Ii

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Articles related to Thanatophoric Dysplasia, Type Ii:

(show all 11)
idTitleAuthorsYear
1
Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel). (24517215)
2014
2
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. (24075385)
2013
3
Disruption of a Sox9-I^-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II. (22843502)
2012
4
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. (21204232)
2011
5
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. (18485666)
2008
6
The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. (12624096)
2003
7
Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen. (12605444)
2003
8
A central nervous system specific mouse model for thanatophoric dysplasia type II. (12966031)
2003
9
Thanatophoric dysplasia type II: new entity? (9481651)
1998
10
Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. (9069288)
1997
11
Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II. (8754806)
1996

Variations for Thanatophoric Dysplasia, Type Ii

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UniProtKB/Swiss-Prot genetic disease variations for Thanatophoric Dysplasia, Type Ii:

69
id Symbol AA change Variation ID SNP ID
1FGFR3p.Lys650GluVAR_004160rs78311289

Clinvar genetic disease variations for Thanatophoric Dysplasia, Type Ii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.1948A> G (p.Lys650Glu)SNVPathogenicrs78311289GRCh37Chr 4, 1807889: 1807889

Expression for genes affiliated with Thanatophoric Dysplasia, Type Ii

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Search GEO for disease gene expression data for Thanatophoric Dysplasia, Type Ii.

Pathways for genes affiliated with Thanatophoric Dysplasia, Type Ii

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GO Terms for genes affiliated with Thanatophoric Dysplasia, Type Ii

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Biological processes related to Thanatophoric Dysplasia, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1JAK-STAT cascadeGO:00072599.3FGFR3, STAT1
2positive regulation of ERK1 and ERK2 cascadeGO:00703749.0FGFR3, SPRY2

Sources for Thanatophoric Dysplasia, Type Ii

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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