MCID: ORF001
MIFTS: 41

Orofaciodigital Syndrome malady

Genetic diseases, Rare diseases, Oral diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases, Respiratory diseases categories

Aliases & Classifications for Orofaciodigital Syndrome

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Aliases & Descriptions for Orofaciodigital Syndrome:

Name: Orofaciodigital Syndrome 10 45 23 12
Oral-Facial-Digital Syndrome 23 24
Orofaciodigital Syndromes 45 65
Oral Facial Digital Syndromes 45
Oral-Facial-Digital Syndromes 45
Orofaciodigital Syndrome I 65
 
Oro-Facio-Digital Syndrome 23
Orodigitofacial Dysostosis 23
Orodigitofacial Syndrome 23
Dysplasia Linguofacialis 23
Ofds 23


Classifications:



External Ids:

Disease Ontology10 DOID:4501
MeSH36 D009958

Summaries for Orofaciodigital Syndrome

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NIH Rare Diseases:45 Orofaciodigital syndromes refers to numerous conditions in which the oral cavity (mouth, tongue, teeth, and jaw), facial structures (head, eyes, and nose), and digits (fingers and toes) may be formed differently. when changes happen to many different parts of the body, this is called a syndrome. the literature reports up to thirteen types of orofaciodigital syndrome, but research is necessary to confirm and clarify all of these types. for most of the types the exact cause of the condition is unknown. click here to read this and more by visiting an information page on this topic developed by the national human genome research institute.see below for a list of orofaciodigital syndromes. these types are defined by certain symptoms or characteristics in addition to the those affecting the oral cavity, facial structures, and digits. click on the embedded links to learn more about each type: orofaciodigital syndrome 1        orofaciodigital syndrome 8  orofaciodigital syndrome 2        orofaciodigital syndrome 9orofaciodigital syndrome 3        orofaciodigital syndrome 10 orofaciodigital syndrome 4        orofaciodigital syndrome 11 orofaciodigital syndrome 5        orofaciodigital syndrome 12orofaciodigital syndrome 6        orofaciodigital syndrome 13orofaciodigital syndrome 7**now considered identical to type 1                                         last updated: 2/17/2010

MalaCards based summary: Orofaciodigital Syndrome, also known as oral-facial-digital syndrome, is related to orofaciodigital syndrome i and orofaciodigital syndrome vi. An important gene associated with Orofaciodigital Syndrome is OFD1 (Oral-Facial-Digital Syndrome 1), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, tongue and eye.

Disease Ontology:10 A genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has material basis in x-linked inheritance of an ofd gene.

Genetics Home Reference:23 Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).

Related Diseases for Orofaciodigital Syndrome

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Diseases in the Orofaciodigital Syndrome family:

Orofaciodigital Syndrome V Orofaciodigital Syndrome Vi
Orofaciodigital Syndrome Iv Orofaciodigital Syndrome Xiv
Orofaciodigital Syndrome I Orofaciodigital Syndrome 10
Orofaciodigital Syndrome 11 Orofaciodigital Syndrome 12
Orofaciodigital Syndrome 13 Orofaciodigital Syndrome 2
Orofaciodigital Syndrome 3 Orofaciodigital Syndrome 8
Orofaciodigital Syndrome 9

Diseases related to Orofaciodigital Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1orofaciodigital syndrome i10.8
2orofaciodigital syndrome vi10.7
3orofaciodigital syndrome iv10.7
4orofaciodigital syndrome v10.6
5orofaciodigital syndrome 1010.6
6orofaciodigital syndrome 810.6
7orofaciodigital syndrome xiv10.5
8orofaciodigital syndrome 910.5
9orofaciodigital syndrome 1110.5
10orofaciodigital syndrome 1310.5
11orofaciodigital syndrome 210.5
12orofaciodigital syndrome 1210.5
13orofaciodigital syndrome 310.5
14cerebellar hypoplasia10.4
15hypothalamic hamartomas10.4
16cystic kidney10.3
17endometriosis10.3
18oculodentodigital dysplasia10.3
19ellis-van creveld syndrome10.2
20pallister-hall syndrome10.2
21hydrolethalus syndrome10.2
22alopecia10.2
23hydronephrosis10.2
24coloboma10.2
25astrocytoma10.2
26ciliopathy10.2
27congenital heart disease10.2
28pancreatitis10.2
29vaginitis10.2
30fibular aplasia10.2
31pilocytic astrocytoma10.2
32precocious puberty10.2
33werdnig-hoffman disease10.2
34penile agenesis10.2
35vaginal atresia10.2
36hepatocellular carcinoma10.1
37adult syndrome10.1
38crouzon syndrome10.1
39n syndrome10.1
40child syndrome10.1
41good syndrome10.1
42polydactyly10.1
43beemer-langer syndrome10.1
44cleft lip10.1
45cerebritis10.1
46porencephaly10.1
47polycystic kidney disease10.1
48secondary syphilis10.1
49bone development disease10.1
50chromosomal disease10.1

Graphical network of the top 20 diseases related to Orofaciodigital Syndrome:



Diseases related to orofaciodigital syndrome

Symptoms for Orofaciodigital Syndrome

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Drugs & Therapeutics for Orofaciodigital Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mentholapproved17482216-51-516666
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404
2Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 GeneRecruitingNCT01962129
3Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
4UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998

Search NIH Clinical Center for Orofaciodigital Syndrome

Genetic Tests for Orofaciodigital Syndrome

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Genetic tests related to Orofaciodigital Syndrome:

id Genetic test Affiliating Genes
1 Oral-Facial-Digital Syndrome24

Anatomical Context for Orofaciodigital Syndrome

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MalaCards organs/tissues related to Orofaciodigital Syndrome:

33
Kidney, Tongue, Eye, Pituitary, Bone

Animal Models for Orofaciodigital Syndrome or affiliated genes

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Publications for Orofaciodigital Syndrome

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Articles related to Orofaciodigital Syndrome:

(show all 38)
idTitleAuthorsYear
1
TMEM107 is a Critical Regulator of Ciliary Protein Composition and is Mutated in Orofaciodigital Syndrome. (26518474)
2015
2
Rare case of orofaciodigital syndrome type I. (23417374)
2013
3
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. (23972372)
2013
4
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability. (23033313)
2013
5
Orofaciodigital syndrome. (22278878)
2012
6
Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals. (23716954)
2012
7
Bilateral cleft lip: a potential variant form of orofaciodigital syndrome type II? (22705220)
2012
8
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. (18383484)
2008
9
Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. (18177199)
2007
10
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. (17535085)
2007
11
Orofaciodigital syndrome with cerebral dysgenesis. (16502430)
2006
12
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly. (11438951)
2001
13
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? (10051020)
1999
14
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. (10422014)
1999
15
Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease. (9175067)
1997
16
Prenatal diagnosis of orofaciodigital syndrome Varadi-Papp type. (8887243)
1996
17
Orofaciodigital syndrome I: a case report. (9151628)
1996
18
Prenatal diagnosis of orofaciodigital syndrome: Mohr type. (8551554)
1995
19
Orofaciodigital syndrome type I in a patient with severe CNS defects. (8554663)
1995
20
Midline defects of the orofaciodigital syndrome type VI (VA!radi syndrome). (7986801)
1994
21
Orofaciodigital syndrome type III in two sibs. (8230165)
1993
22
Renal cystic disease associated with orofaciodigital syndrome. (1539404)
1992
23
Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis. (1453437)
1992
24
Orofaciodigital syndrome type IV: report of a patient. (1642284)
1992
25
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. (1867273)
1991
26
Variability of expression of the orofaciodigital syndrome type I in black females: six cases. (2063902)
1991
27
A male with type I orofaciodigital syndrome. (1941964)
1991
28
Orofaciodigital syndrome type IV: report of a patient. (2929654)
1989
29
X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males. (3229001)
1988
30
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. (3560170)
1987
31
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. (3560172)
1987
32
Orofaciodigital syndrome with mesomelic limb shortening. (6748015)
1984
33
Letter: Orofaciodigital syndrome. (949866)
1976
34
Orofaciodigital syndrome, type I: a phenotypic and genetic analysis. (1059061)
1975
35
Orofaciodigital syndrome II (OFD II) in brother and sister. (5173223)
1971
36
Orofaciodigital syndrome I (OFD I). (5173222)
1971
37
THE OROFACIODIGITAL SYNDROME. (14210673)
1964
38
OROFACIODIGITAL SYNDROME IN A MALE: CASE REPORT. (14089819)
1963

Variations for Orofaciodigital Syndrome

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Clinvar genetic disease variations for Orofaciodigital Syndrome:

5 (show all 103)
id Gene Variation Type Significance SNP ID Assembly Location
1OFD1NG_008872.1: g.16740_20819del4080deletionPathogenicGRCh37Chr X, 13764571: 13768650
2OFD1NM_003611.2(OFD1): c.1303A> C (p.Ser435Arg)single nucleotide variantPathogenicrs122460150GRCh37Chr X, 13774778: 13774778
3OFD1NM_003611.2(OFD1): c.312delG (p.Val105Tyrfs)deletionPathogenicrs312262822GRCh37Chr X, 13754797: 13754797
4OFD1OFD1, 19-BP DEL, NT294deletionPathogenic
5OFD1NM_003611.2(OFD1): c.413-10T> Gsingle nucleotide variantPathogenicrs312262833GRCh37Chr X, 13762524: 13762524
6OFD1NM_003611.2(OFD1): c.1887_1888insAT (p.Asn630Ilefs)insertionPathogenicrs312262886GRCh37Chr X, 13778466: 13778467
7OFD1NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs)duplicationPathogenicrs312262890GRCh37Chr X, 13778702: 13778705
8OFD1NM_003611.2(OFD1): c.2841_2847delAAAAGAC (p.Lys948Asnfs)deletionPathogenicrs312262895GRCh37Chr X, 13786256: 13786262
9OFD1NM_003611.2(OFD1): c.2767delG (p.Glu923Lysfs)deletionPathogenicrs312262894GRCh37Chr X, 13786182: 13786182
10OFD1NM_003611.2(OFD1): c.(?_-360)_828+?deldeletionPathogenicGRCh37Chr X, 13752831: 13765072
11OFD1NM_003611.2(OFD1): c.(?_-311)_1542+?deldeletionPathogenicGRCh37Chr X, 13752832: 13775909
12OFD1NM_003611.2: c.1051-2> Gsingle nucleotide variantPathogenic
13OFD1NM_003611.2(OFD1): c.1056-2A> Tsingle nucleotide variantPathogenicrs312262861GRCh37Chr X, 13771485: 13771485
14OFD1NM_003611.2: c.1056C> Gsingle nucleotide variantPathogenic
15OFD1NM_003611.2(OFD1): c.1071_1078delGAAGGATGinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr)indelPathogenicrs312262862GRCh37Chr X, 13771502: 13771509
16OFD1NM_003611.2(OFD1): c.1099C> T (p.Arg367Ter)single nucleotide variantPathogenicrs312262863GRCh37Chr X, 13771530: 13771530
17OFD1NM_003611.2(OFD1): c.1100G> A (p.Arg367Gln)single nucleotide variantPathogenicrs312262864GRCh37Chr X, 13771531: 13771531
18OFD1NM_003611.2(OFD1): c.111+2T> Csingle nucleotide variantPathogenicrs312262809GRCh37Chr X, 13753467: 13753467
19OFD1NM_003611.2(OFD1): c.111G> A (p.Lys37=)single nucleotide variantPathogenicrs312262808GRCh37Chr X, 13753465: 13753465
20OFD1NM_003611.2(OFD1): c.111G> C (p.Lys37Asn)single nucleotide variantPathogenicrs312262808GRCh37Chr X, 13753465: 13753465
21OFD1NM_003611.2(OFD1): c.1130-22_1130-19delAATTdeletionPathogenicrs312262865GRCh37Chr X, 13773248: 13773251
22OFD1NM_003611.2(OFD1): c.1178dupA (p.Glu394Glyfs)duplicationPathogenicrs312262866GRCh37Chr X, 13773318: 13773318
23OFD1NM_003611.2(OFD1): c.1185delA (p.Glu395Aspfs)deletionPathogenicrs312262867GRCh37Chr X, 13773325: 13773325
24OFD1NM_003611.2(OFD1): c.1193_1196delAATC (p.Gln398Leufs)deletionPathogenicrs312262868GRCh37Chr X, 13773333: 13773336
25OFD1NM_003611.2(OFD1): c.121C> T (p.Arg41Ter)single nucleotide variantPathogenicrs312262810GRCh37Chr X, 13754606: 13754606
26OFD1NM_003611.2(OFD1): c.1220_1221+1delAGGdeletionPathogenicrs312262869GRCh37Chr X, 13773360: 13773362
27OFD1NM_003611.2(OFD1): c.1221+1delGdeletionPathogenicrs312262870GRCh37Chr X, 13773362: 13773362
28OFD1NM_003611.2(OFD1): c.1222-?_(*_?)deldeletionPathogenic
29OFD1NM_003611.2(OFD1): c.1268_1272delAAAAC (p.Gln423Profs)deletionPathogenicrs312262871GRCh37Chr X, 13774743: 13774747
30OFD1NM_003611.2(OFD1): c.1318delC (p.Leu440Terfs)deletionPathogenicrs312262872GRCh37Chr X, 13774793: 13774793
31OFD1NM_003611.2(OFD1): c.1319delT (p.Leu440Glnfs)deletionPathogenicrs312262873GRCh37Chr X, 13774794: 13774794
32OFD1NM_003611.2(OFD1): c.1322_1326delAAGAA (p.Lys441Argfs)deletionPathogenicrs312262874GRCh37Chr X, 13774797: 13774801
33OFD1NM_003611.2(OFD1): c.1323_1326delAGAA (p.Glu442Argfs)deletionPathogenicrs312262875GRCh37Chr X, 13774798: 13774801
34OFD1NM_003611.2(OFD1): c.1334_1335delTG (p.Leu445Argfs)deletionPathogenicrs312262876GRCh37Chr X, 13774809: 13774810
35OFD1NM_003611.2(OFD1): c.1358T> A (p.Leu453Ter)single nucleotide variantPathogenicrs312262877GRCh37Chr X, 13774833: 13774833
36OFD1NM_003611.2(OFD1): c.1360_1363delCTTA (p.Leu454Asnfs)deletionPathogenicrs312262878GRCh37Chr X, 13774835: 13774838
37OFD1NM_003611.2(OFD1): c.1409delA (p.Asn470Thrfs)deletionPathogenicrs312262879GRCh37Chr X, 13774884: 13774884
38OFD1NM_003611.2(OFD1): c.1420C> T (p.Gln474Ter)single nucleotide variantPathogenicrs312262880GRCh37Chr X, 13775787: 13775787
39OFD1NM_003611.2(OFD1): c.1445_1446delTT (p.Phe482Serfs)deletionPathogenicrs312262881GRCh37Chr X, 13775812: 13775813
40OFD1NM_003611.2(OFD1): c.1452_1458delAGAACTA (p.Lys484Asnfs)deletionPathogenicrs312262882GRCh37Chr X, 13775819: 13775825
41OFD1NM_003611.2(OFD1): c.1587delA (p.Ala530Leufs)deletionPathogenicrs312262883GRCh37Chr X, 13776500: 13776500
42OFD1NM_003611.2(OFD1): c.162_166delTGGAG (p.Ser54Argfs)deletionPathogenicrs312262811GRCh37Chr X, 13754647: 13754651
43OFD1NM_003611.2(OFD1): c.1757delG (p.Ser586Metfs)deletionPathogenicrs312262884GRCh37Chr X, 13778336: 13778336
44OFD1NM_003611.2(OFD1): c.1821delG (p.Ile608Serfs)deletionPathogenicrs312262885GRCh37Chr X, 13778400: 13778400
45OFD1NM_003611.2(OFD1): c.1979_1980delCT (p.Ser660Cysfs)deletionPathogenicrs312262887GRCh37Chr X, 13778558: 13778559
46OFD1NM_003611.2(OFD1): c.2044dupA (p.Ile682Asnfs)duplicationPathogenicrs312262888GRCh37Chr X, 13778623: 13778623
47OFD1NM_003611.2(OFD1): c.2056delT (p.Ser686Profs)deletionPathogenicrs312262889GRCh37Chr X, 13778635: 13778635
48OFD1NM_003611.2(OFD1): c.2176delC (p.Arg726Alafs)deletionPathogenicrs312262891GRCh37Chr X, 13778755: 13778755
49OFD1NM_003611.2(OFD1): c.221C> T (p.Ser74Phe)single nucleotide variantPathogenicrs312262812GRCh37Chr X, 13754706: 13754706
50OFD1NM_003611.2(OFD1): c.224A> C (p.Asn75Thr)single nucleotide variantPathogenicrs312262813GRCh37Chr X, 13754709: 13754709
51OFD1NM_003611.2(OFD1): c.2261-1G> Tsingle nucleotide variantPathogenicrs312262892GRCh37Chr X, 13779203: 13779203
52OFD1NM_003611.2(OFD1): c.2261-?_2387+?deldeletionPathogenicGRCh37Chr X, 13779204: 13779330
53OFD1NM_003611.2(OFD1): c.2349delC (p.Ile784Serfs)deletionPathogenicrs312262893GRCh37Chr X, 13779292: 13779292
54OFD1NM_003611.2(OFD1): c.235G> A (p.Ala79Thr)single nucleotide variantPathogenicrs312262814GRCh37Chr X, 13754720: 13754720
55OFD1NM_003611.2(OFD1): c.241C> G (p.His81Asp)single nucleotide variantPathogenicrs312262815GRCh37Chr X, 13754726: 13754726
56OFD1NM_003611.2(OFD1): c.243C> G (p.His81Gln)single nucleotide variantPathogenicrs312262816GRCh37Chr X, 13754728: 13754728
57OFD1NM_003611.2(OFD1): c.247C> T (p.Gln83Ter)single nucleotide variantPathogenicrs312262817GRCh37Chr X, 13754732: 13754732
58OFD1NM_003611.2(OFD1): c.260A> G (p.Tyr87Cys)single nucleotide variantPathogenicrs312262818GRCh37Chr X, 13754745: 13754745
59OFD1NM_003611.2(OFD1): c.274T> C (p.Ser92Pro)single nucleotide variantPathogenicrs312262819GRCh37Chr X, 13754759: 13754759
60OFD1NM_003611.2(OFD1): c.290A> G (p.Glu97Gly)single nucleotide variantPathogenicrs312262820GRCh37Chr X, 13754775: 13754775
61OFD1NM_003611.2(OFD1): c.294_312del19 (p.Ser98Argfs)deletionPathogenicrs312262821GRCh37Chr X, 13754779: 13754797
62OFD1NM_003611.2(OFD1): c.312+2_312+8delTAAAGTCdeletionPathogenicrs397507557GRCh37Chr X, 13754799: 13754805
63OFD1NM_003611.2(OFD1): c.313dupG (p.Val105Glyfs)duplicationPathogenicrs312262823GRCh37Chr X, 13756965: 13756965
64OFD1NM_003611.2(OFD1): c.337C> T (p.Gln113Ter)single nucleotide variantPathogenicrs312262825GRCh37Chr X, 13756989: 13756989
65OFD1NM_003611.2(OFD1): c.372C> G (p.Tyr124Ter)single nucleotide variantPathogenicrs312262826GRCh37Chr X, 13757024: 13757024
66OFD1NM_003611.2(OFD1): c.382-?_412+?deldeletionPathogenicGRCh37Chr X, 13757121: 13757151
67OFD1NM_003611.2(OFD1): c.382-2A> Gsingle nucleotide variantPathogenicrs312262829GRCh37Chr X, 13757119: 13757119
68OFD1NM_003611.2(OFD1): c.382-3C> Gsingle nucleotide variantPathogenicrs312262828GRCh37Chr X, 13757118: 13757118
69OFD1NM_003611.2(OFD1): c.400_403delGAAA (p.Glu134Ilefs)deletionPathogenicrs312262830GRCh37Chr X, 13757139: 13757142
70OFD1NM_003611.2(OFD1): c.411delA (p.Gly138Valfs)deletionPathogenicrs312262831GRCh37Chr X, 13757150: 13757150
71OFD1NM_003611.2(OFD1): c.412+2delTdeletionPathogenicrs312262832GRCh37Chr X, 13757153: 13757153
72OFD1NM_003611.2(OFD1): c.412G> A (p.Gly138Ser)single nucleotide variantPathogenicrs312262827GRCh37Chr X, 13757151: 13757151
73OFD1NM_003611.2(OFD1): c.431T> A (p.Leu144Ter)single nucleotide variantPathogenicrs312262835GRCh37Chr X, 13762552: 13762552
74OFD1NM_003611.2(OFD1): c.431dupT (p.Leu144Phefs)duplicationPathogenicrs312262834GRCh37Chr X, 13762552: 13762552
75OFD1NM_003611.2(OFD1): c.43_44delAG (p.Gln16Argfs)deletionPathogenicrs312262806GRCh37Chr X, 13753397: 13753398
76OFD1NM_003611.2(OFD1): c.454C> T (p.Gln152Ter)single nucleotide variantPathogenicrs312262836GRCh37Chr X, 13762575: 13762575
77OFD1NM_003611.2(OFD1): c.518-?_935+?deldeletionPathogenicGRCh37Chr X, 13764438: 13767652
78OFD1NM_003611.2(OFD1): c.594_598delAAAGC (p.Leu200Terfs)deletionPathogenicrs312262837GRCh37Chr X, 13764514: 13764518
79OFD1NM_003611.2(OFD1): c.602delA (p.Asn201Metfs)deletionPathogenicrs312262838GRCh37Chr X, 13764522: 13764522
80OFD1NM_003611.2(OFD1): c.615_620delAGAAAT (p.Ile207_Glu208del)deletionPathogenicrs312262839GRCh37Chr X, 13764535: 13764540
81OFD1NM_003611.2(OFD1): c.616_617delGA (p.Glu206Asnfs)deletionPathogenicrs312262840GRCh37Chr X, 13764536: 13764537
82OFD1NM_003611.2(OFD1): c.628C> T (p.Gln210Ter)single nucleotide variantPathogenicrs312262841GRCh37Chr X, 13764548: 13764548
83OFD1NM_003611.2(OFD1): c.653delA (p.Lys218Serfs)deletionPathogenicrs312262842GRCh37Chr X, 13764573: 13764573
84OFD1NM_003611.2(OFD1): c.654+2_654+4delTAAdeletionPathogenicrs397507558GRCh37Chr X, 13764576: 13764578
85OFD1NM_003611.2(OFD1): c.65dupA (p.Leu23Alafs)duplicationPathogenicrs312262807GRCh37Chr X, 13753419: 13753419
86OFD1NM_003611.2(OFD1): c.675delC (p.Glu226Argfs)deletionPathogenicrs312262844GRCh37Chr X, 13764919: 13764919
87OFD1NM_003611.2(OFD1): c.707_719delAAAAGTATGAAAA (p.Lys236Argfs)deletionPathogenicrs312262846GRCh37Chr X, 13764951: 13764963
88OFD1NM_003611.2(OFD1): c.709_710delAA (p.Lys237Valfs)deletionPathogenicrs312262847GRCh37Chr X, 13764953: 13764954
89OFD1NM_003611.2(OFD1): c.710delA (p.Lys237Serfs)deletionPathogenicrs312262848GRCh37Chr X, 13764954: 13764954
90OFD1NM_003611.2(OFD1): c.710dupA (p.Tyr238Valfs)duplicationPathogenicrs312262845GRCh37Chr X, 13764954: 13764954
91OFD1NM_003611.2(OFD1): c.712delT (p.Tyr238Metfs)deletionPathogenicrs312262849GRCh37Chr X, 13764956: 13764956
92OFD1NM_003611.2(OFD1): c.790dupG (p.Glu264Glyfs)duplicationPathogenicrs312262850GRCh37Chr X, 13765034: 13765034
93OFD1NM_003611.2(OFD1): c.823C> T (p.Gln275Ter)single nucleotide variantPathogenicrs312262851GRCh37Chr X, 13765067: 13765067
94OFD1NM_003611.2(OFD1): c.837_838delAA (p.Lys280Argfs)deletionPathogenicrs312262852GRCh37Chr X, 13767554: 13767555
95OFD1NM_003611.2(OFD1): c.837_841delAAAAG (p.Lys280Asnfs)deletionPathogenicrs312262853GRCh37Chr X, 13767554: 13767558
96OFD1NM_003611.2(OFD1): c.839_840delAA (p.Lys280Argfs)deletionPathogenicrs312262854GRCh37Chr X, 13767556: 13767557
97OFD1NM_003611.2(OFD1): c.843_844delAA (p.Glu281Aspfs)deletionPathogenicrs312262855GRCh37Chr X, 13767560: 13767561
98OFD1NM_003611.2(OFD1): c.858delG (p.Arg286Serfs)deletionPathogenicrs312262856GRCh37Chr X, 13767575: 13767575
99OFD1NM_003611.2(OFD1): c.871A> T (p.Lys291Ter)single nucleotide variantPathogenicrs312262857GRCh37Chr X, 13767588: 13767588
100OFD1NM_003611.2(OFD1): c.877_878delAT (p.Met293Glyfs)deletionPathogenicrs312262858GRCh37Chr X, 13767594: 13767595
101OFD1NM_003611.2(OFD1): c.898_899dupGA (p.Ala301Lysfs)duplicationPathogenicrs312262859GRCh37Chr X, 13767615: 13767616
102OFD1NM_003611.2(OFD1): c.919delG (p.Val307Leufs)deletionPathogenicrs312262860GRCh37Chr X, 13767636: 13767636
103OFD1NM_003611.2(OFD1): c.936-?_1129+?deldeletionPathogenicGRCh37Chr X, 13769368: 13771560

Expression for genes affiliated with Orofaciodigital Syndrome

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Search GEO for disease gene expression data for Orofaciodigital Syndrome.

Pathways for genes affiliated with Orofaciodigital Syndrome

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GO Terms for genes affiliated with Orofaciodigital Syndrome

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Cellular components related to Orofaciodigital Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:00344519.5C2CD3, OFD1
2ciliary basal bodyGO:00360649.4C2CD3, OFD1
3centrioleGO:00058149.1C2CD3, OFD1

Biological processes related to Orofaciodigital Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cilium morphogenesisGO:00602719.3OFD1, TCTN3
2cilium assemblyGO:00423849.0C2CD3, C5orf42
3organelle organizationGO:00069968.6C2CD3, OFD1, TCTN3

Sources for Orofaciodigital Syndrome

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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