MCID: RST003
MIFTS: 35

Restrictive Dermopathy malady

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Restrictive Dermopathy

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Restrictive Dermopathy:

Name: Restrictive Dermopathy 51
Lethal Tight Skin Contracture Syndrome 65
Hyperkeratosis-Contracture Syndrome 51
 
Tight Skin Contracture Syndrome 51
Lethal Restrictive Dermopathy 51

Characteristics:

Orphanet epidemiological data:

51
hyperkeratosis-contracture syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth

Classifications:



External Ids:

Orphanet51 1662
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0406585
UMLS65 C0406585

Summaries for Restrictive Dermopathy

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Wikipedia:68 Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by abnormal... more...

MalaCards based summary: Restrictive Dermopathy, also known as lethal tight skin contracture syndrome, is related to restrictive dermopathy, lethal and gaucher ichthyosis restrictive dermopathy, and has symptoms including large fontanelle/delayed fontanelle closure, micrognathia/retrognathia/micrognathism/retrognathism and ectropion/entropion/eyelid eversion. An important gene associated with Restrictive Dermopathy is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways are Adipogenesis and Initiation of Nuclear Envelope Reformation. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are digestive/alimentary and craniofacial.

Related Diseases for Restrictive Dermopathy

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Graphical network of the top 20 diseases related to Restrictive Dermopathy:



Diseases related to restrictive dermopathy

Symptoms for Restrictive Dermopathy

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Symptoms:

 51 (show all 40)
  • large fontanelle/delayed fontanelle closure
  • micrognathia/retrognathia/micrognathism/retrognathism
  • ectropion/entropion/eyelid eversion
  • absent/decreased lashes
  • short/small nose
  • microstomia/little mouth
  • mouth held open
  • anomalies of teeth and dentition
  • external ear anomalies
  • low set ears/posteriorly rotated ears
  • thick skin/pachydermia/orange skin
  • tight skin/lack of elasticity
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • rough trabeculation of bone
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • early death/lethality
  • stillbirth/neonatal death
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • blepharophimosis/short palpebral fissures
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • anomalies of chest/thorax/trunk
  • clavicle absent/abnormal
  • kyphosis
  • scoliosis
  • complete claw hand/camptodactyly of all fingers
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • lanugo
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • bladder and ureter anomalies
  • hypospadias/epispadias/bent penis
  • adrenal glands anomalies
  • diaphyseal anomaly
  • polyhydramnios
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • aortic root dilatation/dilation/aneurysm

Drugs & Therapeutics for Restrictive Dermopathy

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Drugs for Restrictive Dermopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LosartanapprovedPhase 1, Phase 2276114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
2
PravastatinapprovedPhase 1, Phase 214481093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
Oliprevin
 
Pravachol
Pravaselect
Pravastatin
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
3
AcetylcysteineapprovedPhase 1, Phase 2293616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
4
ErythromycinapprovedPhase 1, Phase 292114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E.e.s
E.e.s.
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythra-derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
 
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin Base
Erythromycin Base Base
Erythromycin Base Filmtab
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
6Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21804
7Hypolipidemic AgentsPhase 1, Phase 22228
8HormonesPhase 1, Phase 211748
9Hormone AntagonistsPhase 1, Phase 210002
10ExpectorantsPhase 1, Phase 2337
11Gastrointestinal AgentsPhase 1, Phase 26401
12Leukotriene AntagonistsPhase 1, Phase 2270
13Analgesics, Non-NarcoticPhase 1, Phase 25184
14Protective AgentsPhase 1, Phase 25651
15Respiratory System AgentsPhase 1, Phase 23931
16AnalgesicsPhase 1, Phase 29358
17Pharmaceutical SolutionsPhase 1, Phase 27004
18N-monoacetylcystinePhase 1, Phase 2293
19Peripheral Nervous System AgentsPhase 1, Phase 218510
20Erythromycin stearatePhase 1, Phase 292
21Erythromycin EthylsuccinatePhase 1, Phase 292
22Anticholesteremic AgentsPhase 1, Phase 21732
23Antihypertensive AgentsPhase 1, Phase 23618
24Anti-Infective AgentsPhase 1, Phase 217220
25Anti-Bacterial AgentsPhase 1, Phase 29140
26Anti-Arrhythmia AgentsPhase 1, Phase 22371
27Angiotensin Receptor AntagonistsPhase 1, Phase 21039
28AngiotensinogenPhase 1, Phase 21032
29Anti-Inflammatory AgentsPhase 1, Phase 28478
30Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 23549
31
Angiotensin IIPhase 1, Phase 2103368521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
32Erythromycin EstolatePhase 1, Phase 292
33Antiviral AgentsPhase 1, Phase 28071
34Antirheumatic AgentsPhase 1, Phase 28496
35AntimetabolitesPhase 1, Phase 29454
36AntioxidantsPhase 1, Phase 22442
37Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 2949

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2
2Ontario ICU Clinical Best Practices Demonstration ProjectCompletedNCT00332982

Search NIH Clinical Center for Restrictive Dermopathy

Genetic Tests for Restrictive Dermopathy

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Anatomical Context for Restrictive Dermopathy

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MalaCards organs/tissues related to Restrictive Dermopathy:

33
Skin, Lung, Bone, Adrenal gland, Heart, Endothelial

Animal Models for Restrictive Dermopathy or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Dermopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8LMNA, TGFA, ZMPSTE24
2MP:00053828.8LMNA, TGFA, ZMPSTE24
3MP:00053758.7LMNA, TGFA, ZMPSTE24
4MP:00053698.5LMNA, TGFA, ZMPSTE24

Publications for Restrictive Dermopathy

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Articles related to Restrictive Dermopathy:

(show all 27)
idTitleAuthorsYear
1
IgG antibodies to endothelial protein C receptor-binding cysteine-rich interdomain region domains of Plasmodium falciparum erythrocyte membrane protein 1 are acquired early in life in individuals exposed to malaria. (26015475)
2015
2
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. (23463857)
2013
3
Do work accidents play any role in the increased risk of death observed in 25- to 44-year-old patients after syncope? (23542111)
2013
4
Bilateral choanal atresia in a cat. (22628267)
2012
5
Clinical features, survival times and COX-1 and COX-2 expression in cats with transitional cell carcinoma of the urinary bladder treated with meloxicam. (22408147)
2012
6
Ocular effects of long term use of topical steroids among children and adolescents with vernal keratoconjunctivitis: a prospective observational study. (22482314)
2011
7
Epo is involved in angiogenesis in human glioma. (20614229)
2011
8
Identification and characterization of adenovirus early region 1B-associated protein 5 as a surface marker on undifferentiated human embryonic stem cells. (21083500)
2011
9
Study of HLA Class I gene in Indian schizophrenic patients of Siliguri, West Bengal. (21459456)
2011
10
Human CD1D gene expression is regulated by LEF-1 through distal promoter regulatory elements. (20363964)
2010
11
Clinical outcome of combined immunotherapy with interferon-alpha and low-dose interleukine-2 for Japanese patients with metastatic renal cell carcinoma. (18818106)
2009
12
Progressive supranuclear palsy: a review of co-existing neurodegeneration. (19235444)
2008
13
Is there a role for inhaled corticosteroids and macrolide therapy in bronchiectasis? (17488142)
2007
14
Nonviral gene delivery with indoleamine 2,3-dioxygenase targeting pulmonary endothelium protects against ischemia-reperfusion injury. (17711549)
2007
15
Expression of p53, p21WAF1/CIP1, p16INK4A and Ki-67 proteins in serous ovarian tumors. (17431389)
2007
16
Severe cranial nerve involvement in a patient with monoclonal anti-MAG/SGPG IgM antibody and localized hard palate amyloidosis. (16546215)
2006
17
The ocular manifestations of Weissenbacher-Zweymuller syndrome. (15044941)
2004
18
Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans. (15384986)
2004
19
Severe protein S deficiency associated with heterozygous factor V Leiden mutation in a child with purpura fulminans. (12687747)
2003
20
Purification and characterization of protein tyrosine phosphatase PTP-MEG2. (12112018)
2002
21
The rebound of lipoproteins after LDL-apheresis. Kinetics and estimation of mean lipoprotein levels. (10998482)
2000
22
Brief communication: stature estimation in extinct AA^nikenk and the myth of Patagonian gigantism. (9584895)
1998
23
Troglitazone prevents insulin dependent diabetes in the non-obese diabetic mouse. (9797040)
1998
24
Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation. (9255393)
1997
25
Endogenous and exogenous nitrates. (1557942)
1992
26
Elevated histamine content of lung lavage in human asbestosis. (3091964)
1986
27
An experiment in the prevention of meningococcal meningitis in Nigeria. (14037992)
1962

Variations for Restrictive Dermopathy

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Expression for genes affiliated with Restrictive Dermopathy

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Search GEO for disease gene expression data for Restrictive Dermopathy.

Pathways for genes affiliated with Restrictive Dermopathy

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Pathways related to Restrictive Dermopathy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3LMNA, ZMPSTE24
2
Show member pathways
9.0BANF1, LMNA

GO Terms for genes affiliated with Restrictive Dermopathy

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Biological processes related to Restrictive Dermopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:00069989.3LMNA, ZMPSTE24
2mitotic nuclear envelope reassemblyGO:00070848.9BANF1, LMNA

Sources for Restrictive Dermopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet