MCID: FCS012
MIFTS: 47

Facioscapulohumeral Muscular Dystrophy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 1

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Aliases & Descriptions for Facioscapulohumeral Muscular Dystrophy 1:

Name: Facioscapulohumeral Muscular Dystrophy 1 49 11 67
Facioscapulohumeral Muscular Dystrophy 32 10 21 45 22 23 12 51 67
Fshd 45 22 23 51 67
Muscular Dystrophy, Facioscapulohumeral 45 23 36 65
Landouzy-Dejerine Muscular Dystrophy 10 45 22 67
Fsh Muscular Dystrophy 21 22 23
Facioscapulohumeral Muscular Dystrophy 1a 45 65
Muscular Dystrophy Facioscapulohumeral 47 24
Fshd1a 45 67
Facioscapulohumeral Type Progressive Muscular Dystrophy 23
Muscular Dystrophy, Facioscapulohumeral, Type 1a 45
Facioscapulohumeral Muscular Dystrophy Type 1a 67
Facioscapuloperoneal Muscular Dystrophy 23
 
Muscular Dystrophy, Landouzy-Dejerine 10
Landouzy Dejerine Muscular Dystrophy 10
Facio-Scapulo-Humeral Dystrophy 23
Facioscapulohumeral Dystrophy 51
Facioscapulohumeral Myopathy 51
Facioscapulohumeral Atrophy 23
Frontometaphyseal Dysplasia 65
Landouzy-Dejerine Myopathy 51
Fsh Dystrophy 51
Fshmd1a 45
Fshd1 67
Fmd 67

Characteristics:

Orphanet epidemiological data:

51
facioscapulohumeral muscular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy

HPO:

61
facioscapulohumeral muscular dystrophy 1:
Onset and clinical course: childhood onset, slow progression
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 158900
Disease Ontology10 DOID:11727
ICD1027 G71.0
MeSH36 D020391
NCIt42 C84704
SNOMED-CT59 399091004, 56096001
Orphanet51 269
ICD10 via Orphanet28 G71.0
UMLS via Orphanet66 C0238288
UMLS65 C0238288, C1834673, C0265293

Summaries for Facioscapulohumeral Muscular Dystrophy 1

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OMIM:49 Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD;... (158900) more...

MalaCards based summary: Facioscapulohumeral Muscular Dystrophy 1, also known as facioscapulohumeral muscular dystrophy, is related to fascioscapulohumeral muscular dystrophy 2, digenic and fibromuscular dysplasia, and has symptoms including mask-like facies, skeletal muscle atrophy and hyperlordosis. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A). Affiliated tissues include skeletal muscle, bone and myeloid.

NIH Rare Diseases:45 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). this condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). the signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. however, the onset and severity of the condition varies widely. facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of dna known as d4z4. this region is located near one end of chromosome 4. it is inherited in an autosomal dominant pattern. last updated: 3/15/2013

UniProtKB/Swiss-Prot:67 Facioscapulohumeral muscular dystrophy 1: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.

Genetics Home Reference:23 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood.

GeneReviews summary for NBK1443

Related Diseases for Facioscapulohumeral Muscular Dystrophy 1

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Graphical network of the top 20 diseases related to Facioscapulohumeral Muscular Dystrophy 1:



Diseases related to facioscapulohumeral muscular dystrophy 1

Symptoms for Facioscapulohumeral Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

158900

Clinical features from OMIM:

158900

Symptoms:

 51 (show all 11)
  • expressionless face/amimia
  • lordosis
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • autosomal dominant inheritance
  • puffy eyelids
  • absent/decreased lashes
  • sensorineural deafness/hearing loss
  • retinal vascular anomalies/retinal telangiectasia
  • congenital cardiac anomaly/malformation/cardiopathy

HPO human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

(show all 25)
id Description Frequency HPO Source Accession
1 mask-like facies hallmark (90%) HP:0000298
2 skeletal muscle atrophy hallmark (90%) HP:0003202
3 hyperlordosis hallmark (90%) HP:0003307
4 emg abnormality hallmark (90%) HP:0003457
5 sensorineural hearing impairment typical (50%) HP:0000407
6 abnormality of the eyelashes typical (50%) HP:0000499
7 palpebral edema typical (50%) HP:0100540
8 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
9 tongue atrophy HP:0012473
10 exudative retinal detachment HP:0012231
11 facial palsy HP:0010628
12 abdominal wall muscle weakness HP:0009023
13 calf muscle hypertrophy HP:0008981
14 scapulohumeral muscular dystrophy HP:0008970
15 retinal telangiectasia HP:0007763
16 shoulder girdle muscle atrophy HP:0003724
17 scapular winging HP:0003691
18 shoulder girdle muscle weakness HP:0003547
19 elevated serum creatine phosphokinase HP:0003236
20 restrictive respiratory insufficiency HP:0002111
21 dysphagia HP:0002015
22 seizures HP:0001250
23 intellectual disability HP:0001249
24 external ophthalmoplegia HP:0000544
25 sensorineural hearing impairment HP:0000407

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 1

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Drugs for Facioscapulohumeral Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisoneapprovedPhase 3126753-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
Juvason
 
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Perrigo Prednisone
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rayos
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
3Anti-Inflammatory AgentsPhase 38478
4HormonesPhase 311748
5Hormone AntagonistsPhase 310002
6Antineoplastic Agents, HormonalPhase 34256
7glucocorticoidsPhase 33896
8
Oxandroloneapproved, investigational1553-39-45878
Synonyms:
(1S,3aS,3bR,5aS,9aS,9bS,11aS)-1-hydroxy-1,9a,11a-trimethyl-2,3,3a,3b,4,5,5a,6,9,9b,10,11-dodecahydroindeno[4,5-h]isochromen-7-one
(4aS,4bS,6aS,7S,9aS,9bR,11aS)-7-hydroxy-4a,6a,7-trimethyltetradecahydroindeno[4,5-h]isochromen-2(1H)-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one (9CI)
17beta-Hydroxy-17-methyl-2-oxa-5alpha-androstan-3-one
17beta-Hydroxy-17alpha-methyl-2-oxa-5alpha-androstan-3-one
2-Oxa-5alpha-androstan-3-one, 17beta-hydroxy-17-methyl- (8CI)
2-Oxaandrostan-3-one, 17-hydroxy-17-methyl-, (5-alpha,17-beta)- (9CI)
53-39-4
8075 C. B
8075 C. B.
8075 C.B
8075 C.B.
8075 CB
AC-14975
AC1L1LBY
Ambap53-39-4
Anavar
C07346
C19H30O3
CHEBI:7820
CHEMBL1200436
CID5878
D00462
DB00621
Dodecahydro-3-hydroxy-6-(hydroxy-methyl)-3,3a,6-trimethyl-1H-benz(e)indene-7-acetic acid delta-lactone
EINECS 200-172-9
 
HSDB 3373
LS-98540
Lonavar
MolPort-003-986-935
NSC 67068
OXANDROLONE
Ossandrolone
Ossandrolone [DCIT]
Oxandrin
Oxandrin (TN)
Oxandrin, Anavar, Oxandrolone
Oxandrolon
Oxandrolona
Oxandrolona [INN-Spanish]
Oxandrolone
Oxandrolone (JAN/USP/INN)
Oxandrolone [USAN:INN:BAN:JAN]
Oxandrolonum
Oxandrolonum [INN-Latin]
Protivar
Provitar
S1753_Selleck
SC 11585
SC-11585
TL8003512
UNII-7H6TM3CT4L
Vasorome
ZINC03813047
9
Mentholapproved19992216-51-516666
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
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
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
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
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
10
Vitamin Capproved, nutraceutical42450-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
Babor Baborganic Biological Enzyme Cleanser
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
e 300
e-300
e300
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
11
Vitamin Eapproved, nutraceutical37159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
12Peripheral Nervous System Agents18510
13Tocolytic Agents561
14Androgens1162
15Anabolic Agents375
16Respiratory System Agents3931
17Adrenergic Agents4204
18Adrenergic Agonists2331
19Neurotransmitter Agents14795
20Adrenergic beta-2 Receptor Agonists741
21Adrenergic beta-Agonists1266
22Bronchodilator Agents2377
23Anti-Asthmatic Agents2796
24Albuterol384
25Tocotrienols372
26Trace Elements3900
27Vitamins3857
28Tocopherols376
29Protective Agents5651
30Antioxidants2442
31Micronutrients3901
32
Selenium1667782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)
33Whey ProteinNutraceutical185
34TocopherolNutraceutical376
35TocotrienolNutraceutical372

Interventional clinical trials:

(show all 29)
idNameStatusNCT IDPhase
1Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular DystrophyCompletedNCT00004646Phase 3
2Study Evaluating MYO-029 in Adult Muscular DystrophyCompletedNCT00104078Phase 1, Phase 2
3The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesRecruitingNCT02579239Phase 1, Phase 2
4Evaluate Safety and Biological Activity of ATYR1940 in Patients With Early Onset Facioscapulohumeral Muscular DystrophyRecruitingNCT02603562Phase 1, Phase 2
5Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular DystrophyActive, not recruitingNCT02239224Phase 1, Phase 2
6Safety, Tolerability, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study ExtensionEnrolling by invitationNCT02531217Phase 1, Phase 2
7Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
81 Year MRI Followup in Facioscapulohumeral Muscular DystrophyCompletedNCT02159612
9Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy PatientsCompletedNCT00821548
10High Intensity Training in Patients With Facioscapulohumeral Muscular DystrophyCompletedNCT02159963
11Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy PatientsCompletedNCT01116570
12Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular DystrophyCompletedNCT00004685
13Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled StudyCompletedNCT01618331
14Prospective Study for 24-months of Physical Training Introduced in Lifestyle of Patients With FSHD : Tolerance, Sustainability and Efficiency of Unsupervised Training Program.CompletedNCT01689480
15Study of Albuterol and Oxandrolone in Patients With Facioscapulohumeral Dystrophy (FSHD)CompletedNCT00027391
16Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic DystrophyCompletedNCT00004769
17Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced.CompletedNCT01990976
18Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular DystrophyRecruitingNCT01671865
19Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy RegistryRecruitingNCT00082108
20Facioscapulohumeral Dystrophy in ChildrenRecruitingNCT02625662
21Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT01596803
22Muscle Inflammation and Fat Infiltration in Patients Affected by FSHDRecruitingNCT02541292
23Rasch-analysis of Clinical Severity in FSHDRecruitingNCT02766985
24Molecular Analysis of Patients With Neuromuscular DiseaseRecruitingNCT00390104
25Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2RecruitingNCT01970735
26Routine Health Care of Patients With FSHDRecruitingNCT02622438
27Bone Health in Facioscapulohumeral Muscular DystrophyActive, not recruitingNCT02413190
28A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular DystrophyActive, not recruitingNCT01437345
29Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2Not yet recruitingNCT02032979

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy 1


Cochrane evidence based reviews: muscular dystrophy, facioscapulohumeral

Genetic Tests for Facioscapulohumeral Muscular Dystrophy 1

About this section

Genetic tests related to Facioscapulohumeral Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy22 DUX4

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

About this section

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

33
Skeletal muscle, Bone, Myeloid, Tongue

Animal Models for Facioscapulohumeral Muscular Dystrophy 1 or affiliated genes

About this section

MGI Mouse Phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Facioscapulohumeral Muscular Dystrophy 1

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Variations for Facioscapulohumeral Muscular Dystrophy 1

About this section

Expression for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

About this section
Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy 1.

Pathways for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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GO Terms for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

About this section

Sources for Facioscapulohumeral Muscular Dystrophy 1

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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