SHFM
MCID: ISL121
MIFTS: 41

Isolated Split Hand-Split Foot Malformation (SHFM)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Split Hand-Split Foot Malformation

MalaCards integrated aliases for Isolated Split Hand-Split Foot Malformation:

Name: Isolated Split Hand-Split Foot Malformation 59
Ectrodactyly 59 73
Split Hand Foot Malformation 59
Split-Hand/foot Malformation 73
Split Hand Foot Deformity 1 73
Split Hand Foot Deformity 73
Shfm 59

Characteristics:

Orphanet epidemiological data:

59
isolated split hand-split foot malformation
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA2440
ICD10 via Orphanet 34 Q71.6 Q72.7
UMLS via Orphanet 74 C0265554

Summaries for Isolated Split Hand-Split Foot Malformation

MalaCards based summary : Isolated Split Hand-Split Foot Malformation, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and split-hand/foot malformation 3. An important gene associated with Isolated Split Hand-Split Foot Malformation is TP63 (Tumor Protein P63), and among its related pathways/superpathways are Signaling by Wnt and MECP2 and Associated Rett Syndrome. Affiliated tissues include bone, heart and eye, and related phenotypes are finger syndactyly and sensorineural hearing impairment

Related Diseases for Isolated Split Hand-Split Foot Malformation

Diseases related to Isolated Split Hand-Split Foot Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 147)
# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 34.1 DLX5 DLX6 SEM1
2 split-hand/foot malformation 3 33.9 BTRC SEM1 WNT10B
3 split-hand/foot malformation 5 33.4 BTRC DLX5 SEM1 TP63 WNT10B
4 split-hand/foot malformation 1 33.1 DLX5 SEM1 TP63
5 split-hand/foot malformation 4 33.0 BTRC DLX5 DLX6 SEM1 TP63 WNT10B
6 split-hand/foot malformation 2 33.0 BTRC DLX5 DLX6 SEM1 TP63 WNT10B
7 split hand-foot malformation 32.0 DLX5 SEM1 TP63 WNT10B
8 split-hand/foot malformation 6 30.7 BTRC DLX5 SEM1 TP63 WNT10B
9 rapp-hodgkin syndrome 29.2 DLX5 DLX6 SEM1 TP63
10 split-hand/foot malformation with long bone deficiency 2 12.5
11 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.5
12 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.4
13 femur bifid with monodactylous ectrodactyly 12.3
14 chromosome 17p13.3, telomeric, duplication syndrome 12.3
15 fibular aplasia ectrodactyly 12.3
16 intellectual disability-spasticity-ectrodactyly syndrome 12.2
17 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.2
18 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia 12.2
19 femur, unilateral bifid, with monodactylous ectrodactyly 12.1
20 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.1
21 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 12.1
22 ectrodactyly cardiopathy dysmorphism 12.1
23 ectrodactyly-cleft palate syndrome 12.1
24 hartsfield syndrome 12.1
25 ectrodactyly-polydactyly 12.0
26 anonychia-ectrodactyly 12.0
27 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 12.0
28 phocomelia ectrodactyly deafness sinus arrhythmia 12.0
29 tibial aplasia-ectrodactyly syndrome 12.0
30 ectrodactyly of lower limbs, congenital heart defect, and micrognathia 11.9
31 cleft palate cardiac defect ectrodactyly 11.9
32 holoprosencephaly ectrodactyly cleft lip palate 11.9
33 hydrops ectrodactyly syndactyly 11.9
34 short stature monodactylous ectrodactyly cleft palate 11.9
35 tibial aplasia ectrodactyly hydrocephalus 11.9
36 adult syndrome 11.9
37 triphalangeal thumbs with brachyectrodactyly 11.8
38 microphthalmia, syndromic 8 11.8
39 split-hand/foot malformation with long bone deficiency 1 11.7
40 split-foot deformity with mandibulofacial dysostosis 11.6
41 kasznica carlson coppedge syndrome 11.5
42 focal dermal hypoplasia 11.3
43 jones hersh yusk syndrome 11.2
44 saal bulas syndrome 11.2
45 split-hand with congenital nystagmus, fundal changes, and cataracts 11.1
46 limb defects, distal transverse, with mental retardation and spasticity 11.1
47 adams-oliver syndrome 1 10.9
48 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 10.9
49 adams-oliver syndrome 2 10.9
50 adams-oliver syndrome 3 10.9

Graphical network of the top 20 diseases related to Isolated Split Hand-Split Foot Malformation:



Diseases related to Isolated Split Hand-Split Foot Malformation

Symptoms & Phenotypes for Isolated Split Hand-Split Foot Malformation

Human phenotypes related to Isolated Split Hand-Split Foot Malformation:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
3 split hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0001171
4 oligodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0012165
5 absent hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0004050
6 aniridia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000526

MGI Mouse Phenotypes related to Isolated Split Hand-Split Foot Malformation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 BTRC DLX5 DLX6 TP63

Drugs & Therapeutics for Isolated Split Hand-Split Foot Malformation

Search Clinical Trials , NIH Clinical Center for Isolated Split Hand-Split Foot Malformation

Genetic Tests for Isolated Split Hand-Split Foot Malformation

Anatomical Context for Isolated Split Hand-Split Foot Malformation

MalaCards organs/tissues related to Isolated Split Hand-Split Foot Malformation:

41
Bone, Heart, Eye, Tongue, Uterus

Publications for Isolated Split Hand-Split Foot Malformation

Articles related to Isolated Split Hand-Split Foot Malformation:

(show top 50) (show all 146)
# Title Authors Year
1
Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome. ( 30113563 )
2018
2
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype. ( 29988626 )
2018
3
Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 29989433 )
2018
4
Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. ( 30208149 )
2018
5
MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects. ( 30358901 )
2018
6
Ectrodactyly in a Chinese patient born to a mother with neuromyelitis optica spectrum disorder. ( 29149698 )
2018
7
Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome. ( 28253185 )
2017
8
Ectrodactyly in Limousin calves. ( 28694368 )
2017
9
Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome. ( 27151912 )
2016
10
Limited ectrodactyly, ectodermal dysplasia and cleft lip-palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis. ( 24460914 )
2014
11
Surgical induction of metacarpal synostosis for treatment of ectrodactyly in a dog. ( 24569849 )
2014
12
Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly). ( 23660549 )
2013
13
Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism. ( 23401811 )
2013
14
A case of ectrodactyly in a neonate. ( 24251264 )
2013
15
Three new patients with FATCO: fibular agenesis with ectrodactyly. ( 22628253 )
2012
16
How many fingers should be there to be a competent electrician?-two cases of ectrodactyly. ( 22707690 )
2012
17
Bilateral ectrodactyly and spinal deformation in a mixed-breed dog. ( 21461206 )
2011
18
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. ( 21485001 )
2011
19
Familial ectrodactyly syndrome in a nigerian child: a case report. ( 22043435 )
2011
20
Ectrodactyly and prenatal diagnosis. ( 23204691 )
2011
21
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. ( 20944926 )
2010
22
Sensitivity to cadmium-chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse. ( 20213698 )
2010
23
Surgical management of ectrodactyly in a Siberian husky. ( 20592835 )
2010
24
Prenatal diagnosis of a case of ectrodactyly in 2D and 3D ultrasound. ( 19421951 )
2009
25
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. ( 18080328 )
2008
26
Prenatally diagnosed ectrodactyly at 16 weeks' gestation by 2- and 3-dimensional ultrasonography: a case report. ( 18753750 )
2008
27
Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations. ( 17159515 )
2007
28
Altered localization of gene expression in both ectoderm and mesoderm is associated with a murine strain difference in retinoic acid-induced forelimb ectrodactyly. ( 17335046 )
2007
29
Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype. ( 17414007 )
2007
30
Interactive effects of cadmium and all-trans-retinoic acid on the induction of forelimb ectrodactyly in C57BL/6 mice. ( 16369952 )
2006
31
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. ( 16688753 )
2006
32
Familial ectrodactyly. ( 17060436 )
2006
33
Cadmium-induced postaxial forelimb ectrodactyly: association with altered sonic hedgehog signaling. ( 15749261 )
2005
34
Shh signaling in limb bud ectoderm: potential role in teratogen-induced postaxial ectrodactyly. ( 15858818 )
2005
35
Typical isolated ectrodactyly of hands and feet: early antenatal diagnosis. ( 16147841 )
2005
36
Ectrodactyly in a West Highland white terrier. ( 15206479 )
2004
37
Association of ectrodactyly and distal phocomelia. ( 12416640 )
2002
38
Ectrodactyly and Germany's eugenics law of 14 July 1933. ( 12116260 )
2002
39
Pedal ectrodactyly: a case report with a new surgical management. ( 12400716 )
2002
40
Ectrodactyly. ( 17656918 )
2002
41
Ectrodactyly-ectodermal dysplasia clefting syndrome. ( 11562050 )
2001
42
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome in twins. ( 11716280 )
2001
43
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. ( 11462173 )
2001
44
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance. ( 11754046 )
2001
45
Non-Hodgkin's lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome. ( 10936828 )
2000
46
Ectrodactyly-ectodermal dysplasia-clefting syndrome. ( 11055171 )
2000
47
Autosomal dominant ectrodactyly with sensorineural deafness. ( 10826624 )
2000
48
Caffeine decreases the occurrence of cadmium-induced forelimb ectrodactyly in C57BL/6J mice. ( 11029150 )
2000
49
Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion. ( 11045577 )
2000
50
Ectrodactyly. A case report. ( 11103595 )
2000

Variations for Isolated Split Hand-Split Foot Malformation

ClinVar genetic disease variations for Isolated Split Hand-Split Foot Malformation:

6 (show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.859C> T (p.Leu287=) single nucleotide variant Benign/Likely benign rs33979049 GRCh37 Chromosome 3, 189584563: 189584563
2 TP63 NM_003722.4(TP63): c.859C> T (p.Leu287=) single nucleotide variant Benign/Likely benign rs33979049 GRCh38 Chromosome 3, 189866774: 189866774
3 TP63 NM_003722.4(TP63): c.1587C> T (p.Leu529=) single nucleotide variant Likely benign rs141847552 GRCh38 Chromosome 3, 189889419: 189889419
4 TP63 NM_003722.4(TP63): c.1587C> T (p.Leu529=) single nucleotide variant Likely benign rs141847552 GRCh37 Chromosome 3, 189607208: 189607208
5 TP63 NM_003722.4(TP63): c.*45C> T single nucleotide variant Benign rs34057105 GRCh38 Chromosome 3, 189894547: 189894547
6 TP63 NM_003722.4(TP63): c.*45C> T single nucleotide variant Benign rs34057105 GRCh37 Chromosome 3, 189612336: 189612336
7 TP63 NM_003722.4(TP63): c.1531C> A (p.Pro511Thr) single nucleotide variant Likely benign rs148076109 GRCh37 Chromosome 3, 189607152: 189607152
8 TP63 NM_003722.4(TP63): c.1531C> A (p.Pro511Thr) single nucleotide variant Likely benign rs148076109 GRCh38 Chromosome 3, 189889363: 189889363
9 TP63 NM_003722.4(TP63): c.303G> A (p.Ser101=) single nucleotide variant Likely benign rs186864205 GRCh37 Chromosome 3, 189456542: 189456542
10 TP63 NM_003722.4(TP63): c.303G> A (p.Ser101=) single nucleotide variant Likely benign rs186864205 GRCh38 Chromosome 3, 189738753: 189738753
11 TP63 NM_003722.4(TP63): c.699A> G (p.Lys233=) single nucleotide variant Likely benign rs199727371 GRCh37 Chromosome 3, 189582140: 189582140
12 TP63 NM_003722.4(TP63): c.699A> G (p.Lys233=) single nucleotide variant Likely benign rs199727371 GRCh38 Chromosome 3, 189864351: 189864351
13 TP63 NM_003722.4(TP63): c.766+3A> G single nucleotide variant Uncertain significance rs886058221 GRCh37 Chromosome 3, 189582210: 189582210
14 TP63 NM_003722.4(TP63): c.766+3A> G single nucleotide variant Uncertain significance rs886058221 GRCh38 Chromosome 3, 189864421: 189864421
15 TP63 NM_003722.4(TP63): c.1652+14A> C single nucleotide variant Likely benign rs150685395 GRCh38 Chromosome 3, 189889498: 189889498
16 TP63 NM_003722.4(TP63): c.1652+14A> C single nucleotide variant Likely benign rs150685395 GRCh37 Chromosome 3, 189607287: 189607287
17 TP63 NM_003722.4(TP63): c.*235_*238delGTAG deletion Uncertain significance rs886058225 GRCh38 Chromosome 3, 189894737: 189894740
18 TP63 NM_003722.4(TP63): c.*235_*238delGTAG deletion Uncertain significance rs886058225 GRCh37 Chromosome 3, 189612526: 189612529
19 TP63 NM_003722.4(TP63): c.*627T> C single nucleotide variant Likely benign rs184452906 GRCh38 Chromosome 3, 189895129: 189895129
20 TP63 NM_003722.4(TP63): c.*627T> C single nucleotide variant Likely benign rs184452906 GRCh37 Chromosome 3, 189612918: 189612918
21 TP63 NM_003722.4(TP63): c.*2123C> T single nucleotide variant Likely benign rs36064124 GRCh38 Chromosome 3, 189896625: 189896625
22 TP63 NM_003722.4(TP63): c.*2123C> T single nucleotide variant Likely benign rs36064124 GRCh37 Chromosome 3, 189614414: 189614414
23 TP63 NM_003722.4(TP63): c.*2197C> A single nucleotide variant Uncertain significance rs886058237 GRCh37 Chromosome 3, 189614488: 189614488
24 TP63 NM_003722.4(TP63): c.*2197C> A single nucleotide variant Uncertain significance rs886058237 GRCh38 Chromosome 3, 189896699: 189896699
25 TP63 NM_003722.4(TP63): c.*2625A> T single nucleotide variant Likely benign rs35694511 GRCh38 Chromosome 3, 189897127: 189897127
26 TP63 NM_003722.4(TP63): c.*2625A> T single nucleotide variant Likely benign rs35694511 GRCh37 Chromosome 3, 189614916: 189614916
27 TP63 NM_003722.4(TP63): c.*2719_*2720delTT deletion Likely benign rs886058242 GRCh38 Chromosome 3, 189897221: 189897222
28 TP63 NM_003722.4(TP63): c.*2719_*2720delTT deletion Likely benign rs886058242 GRCh37 Chromosome 3, 189615010: 189615011
29 TP63 NM_003722.4(TP63): c.409G> C (p.Asp137His) single nucleotide variant Uncertain significance rs762935508 GRCh37 Chromosome 3, 189526145: 189526145
30 TP63 NM_003722.4(TP63): c.409G> C (p.Asp137His) single nucleotide variant Uncertain significance rs762935508 GRCh38 Chromosome 3, 189808356: 189808356
31 TP63 NM_003722.4(TP63): c.766+5G> A single nucleotide variant Uncertain significance rs374425727 GRCh37 Chromosome 3, 189582212: 189582212
32 TP63 NM_003722.4(TP63): c.766+5G> A single nucleotide variant Uncertain significance rs374425727 GRCh38 Chromosome 3, 189864423: 189864423
33 TP63 NM_003722.4(TP63): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs141794685 GRCh38 Chromosome 3, 189886418: 189886418
34 TP63 NM_003722.4(TP63): c.1374A> G (p.Ser458=) single nucleotide variant Uncertain significance rs141794685 GRCh37 Chromosome 3, 189604207: 189604207
35 TP63 NM_003722.4(TP63): c.*232T> C single nucleotide variant Likely benign rs569527175 GRCh38 Chromosome 3, 189894734: 189894734
36 TP63 NM_003722.4(TP63): c.*232T> C single nucleotide variant Likely benign rs569527175 GRCh37 Chromosome 3, 189612523: 189612523
37 TP63 NM_003722.4(TP63): c.*379T> A single nucleotide variant Likely benign rs192879052 GRCh38 Chromosome 3, 189894881: 189894881
38 TP63 NM_003722.4(TP63): c.*379T> A single nucleotide variant Likely benign rs192879052 GRCh37 Chromosome 3, 189612670: 189612670
39 TP63 NM_003722.4(TP63): c.*519C> T single nucleotide variant Uncertain significance rs886058228 GRCh38 Chromosome 3, 189895021: 189895021
40 TP63 NM_003722.4(TP63): c.*519C> T single nucleotide variant Uncertain significance rs886058228 GRCh37 Chromosome 3, 189612810: 189612810
41 TP63 NM_003722.4(TP63): c.*638C> G single nucleotide variant Benign rs6444406 GRCh38 Chromosome 3, 189895140: 189895140
42 TP63 NM_003722.4(TP63): c.*638C> G single nucleotide variant Benign rs6444406 GRCh37 Chromosome 3, 189612929: 189612929
43 TP63 NM_003722.4(TP63): c.*854A> G single nucleotide variant Likely benign rs187751631 GRCh38 Chromosome 3, 189895356: 189895356
44 TP63 NM_003722.4(TP63): c.*854A> G single nucleotide variant Likely benign rs187751631 GRCh37 Chromosome 3, 189613145: 189613145
45 TP63 NM_003722.4(TP63): c.*1130_*1133delTGAA deletion Uncertain significance rs886058229 GRCh38 Chromosome 3, 189895632: 189895635
46 TP63 NM_003722.4(TP63): c.*1130_*1133delTGAA deletion Uncertain significance rs886058229 GRCh37 Chromosome 3, 189613421: 189613424
47 TP63 NM_003722.4(TP63): c.*1181T> C single nucleotide variant Uncertain significance rs565556454 GRCh38 Chromosome 3, 189895683: 189895683
48 TP63 NM_003722.4(TP63): c.*1181T> C single nucleotide variant Uncertain significance rs565556454 GRCh37 Chromosome 3, 189613472: 189613472
49 TP63 NM_003722.4(TP63): c.*1217T> C single nucleotide variant Uncertain significance rs886058231 GRCh38 Chromosome 3, 189895719: 189895719
50 TP63 NM_003722.4(TP63): c.*1217T> C single nucleotide variant Uncertain significance rs886058231 GRCh37 Chromosome 3, 189613508: 189613508

Expression for Isolated Split Hand-Split Foot Malformation

Search GEO for disease gene expression data for Isolated Split Hand-Split Foot Malformation.

Pathways for Isolated Split Hand-Split Foot Malformation

Pathways related to Isolated Split Hand-Split Foot Malformation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 BTRC SEM1 WNT10B
2 10.42 DLX5 DLX6

GO Terms for Isolated Split Hand-Split Foot Malformation

Biological processes related to Isolated Split Hand-Split Foot Malformation according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.71 DLX5 DLX6 TP63 WNT10B
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.51 DLX5 WNT10B
3 cellular response to organic cyclic compound GO:0071407 9.49 BTRC WNT10B
4 roof of mouth development GO:0060021 9.48 DLX5 DLX6
5 inner ear morphogenesis GO:0042472 9.46 DLX5 DLX6
6 positive regulation of epithelial cell proliferation GO:0050679 9.43 DLX5 DLX6
7 skeletal system development GO:0001501 9.43 DLX5 DLX6 TP63
8 positive regulation of osteoblast differentiation GO:0045669 9.37 TP63 WNT10B
9 epithelial cell differentiation GO:0030855 9.33 DLX5 DLX6 TP63
10 head development GO:0060322 9.32 DLX5 DLX6
11 embryonic limb morphogenesis GO:0030326 9.13 DLX5 DLX6 TP63
12 anatomical structure formation involved in morphogenesis GO:0048646 8.8 DLX5 DLX6 TP63

Sources for Isolated Split Hand-Split Foot Malformation

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