KTLS
MCID: KTL001
MIFTS: 41

Keutel Syndrome (KTLS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Keutel Syndrome

MalaCards integrated aliases for Keutel Syndrome:

Name: Keutel Syndrome 57 73 20 58 72 36 29 13 54 6 39 70
Ktls 57 72
Pulmonic Stenosis-Brachytelephalangism-Calcification of Cartilages Syndrome 58
Pulmonic Stenosis, Brachytelephalangism, and Calcification of Cartilages 57
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 20

Characteristics:

Orphanet epidemiological data:

58
keutel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
keutel syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Keutel Syndrome

GARD : 20 Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses ; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less than 30 cases have been reported in the literature. The majority of affected individuals have been diagnosed during childhood. Other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the MGP gene.

MalaCards based summary : Keutel Syndrome, also known as ktls, is related to peripheral pulmonary stenosis and autosomal recessive disease, and has symptoms including seizures An important gene associated with Keutel Syndrome is MGP (Matrix Gla Protein). Affiliated tissues include trachea, bone marrow and fetal liver, and related phenotypes are depressed nasal bridge and long face

OMIM® : 57 Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014). (245150) (Updated 20-May-2021)

KEGG : 36 Keutel syndrome is a rare autosomal recessive condition characterized by diffuse cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been reported.

UniProtKB/Swiss-Prot : 72 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.

Wikipedia : 73 Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse... more...

Related Diseases for Keutel Syndrome

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



Diseases related to Keutel Syndrome

Symptoms & Phenotypes for Keutel Syndrome

Human phenotypes related to Keutel Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
3 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
4 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
5 pulmonary artery stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004415
6 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
7 calcification of cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0100593
8 tracheal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100682
9 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
10 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
11 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
12 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
13 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
14 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
15 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
16 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
17 recurrent sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011108
18 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
19 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
20 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
21 dermal atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0004334
22 soft, doughy skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001027
23 seizure 31 occasional (7.5%) HP:0001250
24 seizures 58 Occasional (29-5%)
25 cerebral calcification 31 HP:0002514
26 hypertension 31 HP:0000822
27 macrotia 31 HP:0000400
28 recurrent respiratory infections 58 Frequent (79-30%)
29 sinusitis 31 HP:0000246
30 epiphyseal stippling 31 HP:0010655
31 emphysema 31 HP:0002097
32 deep philtrum 31 HP:0002002
33 malar flattening 31 HP:0000272
34 nasal speech 31 HP:0001611
35 pulmonic stenosis 31 HP:0001642
36 peripheral pulmonary artery stenosis 31 HP:0004969
37 short thumb 31 HP:0009778
38 short hallux 31 HP:0010109
39 spontaneous abortion 31 HP:0005268
40 pulmonary artery hypoplasia 31 HP:0004971
41 recurrent bronchitis 31 HP:0002837
42 calcification of the auricular cartilage 31 HP:0005103
43 chronic sinusitis 31 HP:0011109
44 growth abnormality 31 HP:0001507
45 costal cartilage calcification 31 HP:0006646
46 airway obstruction 31 HP:0006536
47 cartilaginous ossification of nose 31 HP:0005275
48 premature fusion of phalangeal epiphyses 31 HP:0006140
49 cartilaginous ossification of larynx 31 HP:0008747

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
normal intelligence
mental retardation, mild
cerebral calcifications

Head And Neck Face:
long face
deep philtrum
midface hypoplasia, mild

Cardiovascular Heart:
ventricular septal defect

Respiratory Airways:
recurrent bronchitis
obstructive lung disease
cartilaginous ossification of trachea and bronchi
bullous emphysema

Skeletal Hands:
premature fusion of phalangeal epiphyses
short thumbs
variable shortening of terminal phalanges (brachytelephalangy)
interdigital webbing, mild

Skeletal Feet:
short halluces

Head And Neck Ears:
hearing loss (sensorineural, mixed, and conductive)
large, prominent pinnae
pale, stiff pinnae
progressive cartilaginous ossification of pinnae
recurrent episodes of otitis media

Skeletal:
abnormal cartilage ossification (nose, pinnae, larynx, epiglottis, trachea, bronchial rings, costochondral junctions)

Skin Nails Hair Skin:
erythematous, irregular macular lesions without induration on dorsum of hands, neck, and trunk

Prenatal Manifestations Delivery:
increased risk of spontaneous abortion

Head And Neck Nose:
depressed nasal bridge
cartilaginous ossification of nose
small alae nasi

Voice:
nasal speech

Cardiovascular Vascular:
pulmonary artery hypoplasia
peripheral pulmonary stenosis
arterial hypertension

Respiratory Nasopharynx:
chronic sinusitis

Respiratory Larynx:
cartilaginous ossification of larynx
tracheobronchial stenosis

Growth Height:
stature below 25th percentile

Chest Ribs Sternum Clavicles And Scapulae:
cartilaginous ossification of rib

Skeletal Limbs:
epiphyseal stippling (infancy)

Skin Nails Hair Skin Histology:
absence of elastic fibers in dermis

Clinical features from OMIM®:

245150 (Updated 20-May-2021)

UMLS symptoms related to Keutel Syndrome:


seizures

GenomeRNAi Phenotypes related to Keutel Syndrome according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.55 BMP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.55 BMP2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.55 MGP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.55 MGP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 9.55 MGP
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.55 MGP
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.55 MGP
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.55 MGP
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.55 BMP2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.55 MGP
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.55 BMP2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.55 BMP2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.55 MGP
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.55 MGP
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.55 MGP
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.55 MGP
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 9.55 MGP

Drugs & Therapeutics for Keutel Syndrome

Search Clinical Trials , NIH Clinical Center for Keutel Syndrome

Genetic Tests for Keutel Syndrome

Genetic tests related to Keutel Syndrome:

# Genetic test Affiliating Genes
1 Keutel Syndrome 29 MGP

Anatomical Context for Keutel Syndrome

MalaCards organs/tissues related to Keutel Syndrome:

40
Trachea, Bone Marrow, Fetal Liver, Kidney, Lung, Brain

Publications for Keutel Syndrome

Articles related to Keutel Syndrome:

(show top 50) (show all 55)
# Title Authors PMID Year
1
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. 57 6 54 61
15810001 2005
2
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. 6 54 57 61
9916809 1999
3
Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia. 61 57
28487368 2017
4
Long term follow-up of four patients with Keutel syndrome. 61 57
25123378 2014
5
Keutel syndrome with overlapping features of cutis laxa: a new variant. 57 61
16642510 2006
6
Keutel syndrome: further characterization and review. 61 57
9674914 1998
7
Keutel syndrome: a report of four cases. 61 57
2515061 1989
8
Keutel syndrome: clinical report and literature review. 57 61
3717211 1986
9
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. 61 57
6468443 1984
10
Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. 57
9052783 1997
11
Tracheobronchial stenosis in Keutel syndrome. 54 61
11405537 2001
12
Evaluation of MGP gene expression in colorectal cancer. 61
31589964 2020
13
The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders. 61
31052252 2019
14
A Rare Diagnosis: Keutel Syndrome. 61
32821457 2019
15
A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient. 61
29928182 2018
16
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts. 61
28585220 2017
17
New perspectives on rare connective tissue calcifying diseases. 61
26930168 2016
18
A rare cause of dyspnea in emergency medicine: Keutel syndrome. 61
26462901 2016
19
Deeper understanding of carboxylase. 61
27081093 2016
20
Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders. 61
26758921 2016
21
From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders. 61
26244149 2015
22
Keutel syndrome: Augmentation of the nose with serial fat grafting. 61
26981492 2015
23
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE. 61
26349188 2015
24
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. 61
24458983 2014
25
Elastin haploinsufficiency impedes the progression of arterial calcification in MGP-deficient mice. 61
23857752 2014
26
Hypercholesterolemia induces oxidant stress that accelerates the ageing of hematopoietic stem cells. 61
24470519 2014
27
Neuroimaging findings in children with Keutel syndrome. 61
23917590 2014
28
[Keutel syndrome with tracheal stenosis as the major symptom: case report and literature review]. 61
24267135 2013
29
Tracheobronchial stenosis in Keutel syndrome. 61
23024086 2012
30
[A case of Keutel syndrome in child (review the literature)]. 61
23259292 2012
31
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. 61
22611639 2012
32
Mechanisms of arterial remodeling: lessons from genetic diseases. 61
23248645 2012
33
Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome. 61
21435166 2011
34
Keutel syndrome in a patient presenting with hearing loss. 61
21090163 2010
35
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature. 61
19156647 2009
36
Analysis of apoptosis in hematopoietic stem cells by flow cytometry. 61
18370293 2008
37
Idiopathic isolated laryngotracheobronchial cartilage calcification in a child. 61
18164396 2008
38
Hematopoietic reconstitution by multipotent adult progenitor cells: precursors to long-term hematopoietic stem cells. 61
17227908 2007
39
Tracheobronchial calcification associated with Keutel syndrome. 61
17290573 2006
40
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. 61
16328322 2006
41
Hematopoietic cells maintain hematopoietic fates upon entering the brain. 61
15897275 2005
42
The ETS family transcription factor PU.1 is necessary for the maintenance of fetal liver hematopoietic stem cells. 61
15328162 2004
43
Multiparameter analysis of murine bone marrow side population cells. 61
14644998 2004
44
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. 61
12612818 2003
45
Flk-2 is a marker in hematopoietic stem cell differentiation: a simple method to isolate long-term stem cells. 61
11724967 2001
46
[Keutel syndrome]. 61
11528794 2001
47
Differing functional recovery of donor-derived immune cells after purified haploidentical and fully mismatched hematopoietic stem cell transplantation in mice. 61
11146170 2000
48
Picture of the month. Keutel syndrome. 61
10401814 1999
49
Follow-up of an adult with Keutel syndrome. 61
10377017 1999
50
Keutel syndrome and miscarriages. 61
10096599 1999

Variations for Keutel Syndrome

ClinVar genetic disease variations for Keutel Syndrome:

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MGP NM_000900.5(MGP):c.43del (p.Ala14_Val15insTer) Deletion Pathogenic 14341 rs730880321 GRCh37: 12:15038683-15038683
GRCh38: 12:14885749-14885749
2 MGP NM_000900.5(MGP):c.62-2A>G SNV Pathogenic 14342 rs112518413 GRCh37: 12:15037181-15037181
GRCh38: 12:14884247-14884247
3 MGP NM_000900.5(MGP):c.87T>A (p.Tyr29Ter) SNV Pathogenic 14343 rs730880322 GRCh37: 12:15037154-15037154
GRCh38: 12:14884220-14884220
4 MGP NM_000900.5(MGP):c.94+1G>A SNV Pathogenic 14344 rs111320759 GRCh37: 12:15037146-15037146
GRCh38: 12:14884212-14884212
5 MGP NM_000900.5(MGP):c.310T>C (p.Ter104Arg) SNV Pathogenic 1032488 GRCh37: 12:15035075-15035075
GRCh38: 12:14882141-14882141
6 MGP NM_000900.5(MGP):c.77T>C (p.Met26Thr) SNV Uncertain significance 882668 GRCh37: 12:15037164-15037164
GRCh38: 12:14884230-14884230
7 MGP NM_000900.5(MGP):c.*720C>A SNV Uncertain significance 883397 GRCh37: 12:15034353-15034353
GRCh38: 12:14881419-14881419
8 MGP NM_000900.5(MGP):c.*531T>C SNV Uncertain significance 883398 GRCh37: 12:15034542-15034542
GRCh38: 12:14881608-14881608
9 MGP NM_000900.5(MGP):c.*315dup Duplication Uncertain significance 307765 rs886049104 GRCh37: 12:15034757-15034758
GRCh38: 12:14881823-14881824
10 MGP NM_000900.5(MGP):c.*176C>G SNV Uncertain significance 881048 GRCh37: 12:15034897-15034897
GRCh38: 12:14881963-14881963
11 MGP NM_000900.5(MGP):c.198C>T (p.His66=) SNV Uncertain significance 728682 rs151158281 GRCh37: 12:15035187-15035187
GRCh38: 12:14882253-14882253
12 MGP NM_000900.5(MGP):c.237C>T (p.Cys79=) SNV Uncertain significance 307769 rs886049106 GRCh37: 12:15035148-15035148
GRCh38: 12:14882214-14882214
13 MGP NM_000900.5(MGP):c.46G>A (p.Val16Ile) SNV Uncertain significance 307775 rs868750856 GRCh37: 12:15038680-15038680
GRCh38: 12:14885746-14885746
14 MGP NM_000900.5(MGP):c.84T>C (p.Ser28=) SNV Uncertain significance 307772 rs886049107 GRCh37: 12:15037157-15037157
GRCh38: 12:14884223-14884223
15 MGP NM_000900.4(MGP):c.-66C>A SNV Uncertain significance 307777 rs150994762 GRCh37: 12:15038791-15038791
GRCh38: 12:14885857-14885857
16 MGP NM_000900.5(MGP):c.*455del Deletion Uncertain significance 307762 rs886049103 GRCh37: 12:15034618-15034618
GRCh38: 12:14881684-14881684
17 MGP NM_000900.5(MGP):c.234T>C (p.Leu78=) SNV Uncertain significance 307770 rs149084241 GRCh37: 12:15035151-15035151
GRCh38: 12:14882217-14882217
18 MGP NM_000900.4(MGP):c.-117C>T SNV Uncertain significance 307778 rs569710471 GRCh37: 12:15038842-15038842
GRCh38: 12:14885908-14885908
19 MGP NM_000900.5(MGP):c.*251T>C SNV Uncertain significance 307766 rs886049105 GRCh37: 12:15034822-15034822
GRCh38: 12:14881888-14881888
20 MGP NM_000900.5(MGP):c.*476T>C SNV Uncertain significance 307761 rs184916517 GRCh37: 12:15034597-15034597
GRCh38: 12:14881663-14881663
21 MGP NM_000900.5(MGP):c.*140T>C SNV Likely benign 307767 rs148802642 GRCh37: 12:15034933-15034933
GRCh38: 12:14881999-14881999
22 MGP NM_000900.5(MGP):c.62-9del Deletion Likely benign 307774 rs11393307 GRCh37: 12:15037188-15037188
GRCh38: 12:14884254-14884254
23 MGP NM_000900.5(MGP):c.207T>C (p.Asn69=) SNV Likely benign 307771 rs186013880 GRCh37: 12:15035178-15035178
GRCh38: 12:14882244-14882244
24 MGP NM_000900.5(MGP):c.115A>C (p.Asn39His) SNV Likely benign 281674 rs145210821 GRCh37: 12:15035961-15035961
GRCh38: 12:14883027-14883027
25 MGP NM_000900.5(MGP):c.*538C>G SNV Likely benign 307760 rs139069321 GRCh37: 12:15034535-15034535
GRCh38: 12:14881601-14881601
26 MGP NM_000900.5(MGP):c.157A>G (p.Lys53Glu) SNV Benign/Likely benign 286292 rs1801716 GRCh37: 12:15035919-15035919
GRCh38: 12:14882985-14882985
27 MGP NM_000900.5(MGP):c.*206A>G SNV Benign 881047 GRCh37: 12:15034867-15034867
GRCh38: 12:14881933-14881933
28 MGP NM_000900.5(MGP):c.*755G>T SNV Benign 307756 rs142773584 GRCh37: 12:15034318-15034318
GRCh38: 12:14881384-14881384
29 MGP NM_000900.5(MGP):c.*552A>T SNV Benign 307759 rs1049897 GRCh37: 12:15034521-15034521
GRCh38: 12:14881587-14881587
30 MGP NM_000900.5(MGP):c.-63G>A SNV Benign 307776 rs1800801 GRCh37: 12:15038788-15038788
GRCh38: 12:14885854-14885854
31 MGP NM_000900.5(MGP):c.304A>G (p.Thr102Ala) SNV Benign 284369 rs4236 GRCh37: 12:15035081-15035081
GRCh38: 12:14882147-14882147
32 MGP NM_000900.5(MGP):c.*339T>C SNV Benign 307764 rs150038879 GRCh37: 12:15034734-15034734
GRCh38: 12:14881800-14881800
33 MGP NM_000900.5(MGP):c.*604A>G SNV Benign 307758 rs114512785 GRCh37: 12:15034469-15034469
GRCh38: 12:14881535-14881535
34 MGP NM_000900.5(MGP):c.62-18dup Duplication Benign 307773 rs11393307 GRCh37: 12:15037187-15037188
GRCh38: 12:14884253-14884254
35 MGP NM_000900.5(MGP):c.*615A>G SNV Benign 307757 rs34181533 GRCh37: 12:15034458-15034458
GRCh38: 12:14881524-14881524
36 MGP NM_000900.5(MGP):c.*343G>A SNV Benign 307763 rs35112962 GRCh37: 12:15034730-15034730
GRCh38: 12:14881796-14881796
37 MGP NM_000900.5(MGP):c.*27T>G SNV Benign 307768 rs80337043 GRCh37: 12:15035046-15035046
GRCh38: 12:14882112-14882112
38 MGP NM_000900.5(MGP):c.23C>T (p.Ala8Val) SNV Benign 193127 rs142330429 GRCh37: 12:15038703-15038703
GRCh38: 12:14885769-14885769

Expression for Keutel Syndrome

Search GEO for disease gene expression data for Keutel Syndrome.

Pathways for Keutel Syndrome

GO Terms for Keutel Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 8.8 MGP GLA BMP2

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

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 8.96 MGP BMP2
2 cartilage development GO:0051216 8.62 MGP BMP2

Molecular functions related to Keutel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 8.62 GLA BMP2

Sources for Keutel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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