SDTY3
MCID: SYN060
MIFTS: 40

Syndactyly, Type Iii (SDTY3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Syndactyly, Type Iii

MalaCards integrated aliases for Syndactyly, Type Iii:

Name: Syndactyly, Type Iii 57 12 13 39 70
Syndactyly Type 3 12 73 20 58 29 6 15
Sdty3 57 12 20 72
Ring and Little Finger Syndactyly 57 20 72
Syndactyly of Fingers Iv and V 57 72
Syndactyly of Fingers 4 and 5 12 58
Syndactyly of the Ring and Little Finger 20
Syndactyly of Fingers Four and Five 20
Ringand Little Finger Syndactyly 12
4-5 Finger Syndactyly 6
Syndactyly Type Iii 72
Syndactyly, Type 3 44
Syndactyly 3 72
Sd3 58

Characteristics:

Orphanet epidemiological data:

58
syndactyly type 3
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
syndactyly, type iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111817
OMIM® 57 186100
SNOMED-CT 67 715725001
MESH via Orphanet 45 C538154
ICD10 via Orphanet 33 Q70.1
UMLS via Orphanet 71 C1861366
Orphanet 58 ORPHA93404
MedGen 41 C1861366
UMLS 70 C1861366

Summaries for Syndactyly, Type Iii

GARD : 20 Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations in the GJA1 gene, which has also been implicated in a condition called oculodentodigital dysplasia. SD3 is the characteristic digital abnormality in this condition. SD3 is inherited in an autosomal dominant manner.

MalaCards based summary : Syndactyly, Type Iii, also known as syndactyly type 3, is related to oculodentodigital dysplasia and chromosome 2q35 duplication syndrome. An important gene associated with Syndactyly, Type Iii is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include heart, and related phenotypes are finger syndactyly and camptodactyly of finger

Disease Ontology : 12 A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has material basis in heterozygous mutation in GJA1 on chromosome 6q22.31.

UniProtKB/Swiss-Prot : 72 Syndactyly 3: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.

Wikipedia : 73 Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some... more...

More information from OMIM: 186100

Related Diseases for Syndactyly, Type Iii

Diseases in the Syndactyly, Type Iii family:

Syndactyly, Type Iv Syndactyly, Type V
Syndactyly Type 6

Diseases related to Syndactyly, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 oculodentodigital dysplasia 31.7 GJC1 GJA1
2 chromosome 2q35 duplication syndrome 29.0 ZP2 LMBR1 GJA1 FRAS1 FMN1 FGF16
3 saethre-chotzen syndrome 11.1
4 oculodentodigital dysplasia, autosomal recessive 11.1
5 hereditary lymphedema ic 10.1 GJC1 GJA1
6 hallermann-streiff syndrome 10.1 GJC1 GJA1
7 bart-pumphrey syndrome 10.1 GJC1 GJA1
8 brachydactyly, type b2 10.1 AKIRIN2 AKIRIN1
9 sinoatrial node disease 10.1 GJC1 GJA1
10 palmoplantar keratoderma and congenital alopecia 1 10.1 GJC1 GJA1
11 leukodystrophy, hypomyelinating, 2 10.0 GJC1 GJA1
12 clouston syndrome 10.0 GJC1 GJA1
13 cryptophthalmos, unilateral or bilateral, isolated 10.0 FRAS1 FMN1
14 craniometaphyseal dysplasia, autosomal dominant 10.0 GJC1 GJA1 ANKH
15 dumping syndrome 10.0
16 head injury 10.0
17 heart disease 10.0
18 hypotrichosis 10.0
19 waardenburg's syndrome 10.0
20 47,xyy 10.0
21 acheiropody 9.9 ZP2 LMBR1
22 syndactyly, type iv 9.9 ZP2 LMBR1
23 synostosis 9.9 LMBR1 FRAS1 FMN1
24 tibia, hypoplasia or aplasia of, with polydactyly 9.9 ZP2 LMBR1
25 metacarpal 4-5 fusion 9.8 LMBR1 FGF16 AKIRIN2 AKIRIN1
26 greig cephalopolysyndactyly syndrome 9.8 ZP2 LMBR1
27 chromosomal duplication syndrome 9.7 ZP2 LMBR1 FRAS1
28 zygodactyly 1 9.7 ZP2 FRAS1 FGF16
29 laurin-sandrow syndrome 9.6 ZP2 LMBR1

Graphical network of the top 20 diseases related to Syndactyly, Type Iii:



Diseases related to Syndactyly, Type Iii

Symptoms & Phenotypes for Syndactyly, Type Iii

Human phenotypes related to Syndactyly, Type Iii:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
2 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
3 short toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001831
4 short 5th finger 31 HP:0009237
5 4-5 finger syndactyly 31 HP:0010705
6 absent middle phalanx of 5th finger 31 HP:0009162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Limbs:
syndactyly
complete bilateral syndactyly between 4th and 5th fingers
occasional fusion of distal phalanges
short 5th finger with absent/rudimentary middle phalanx
unaffected feet

Clinical features from OMIM®:

186100 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Syndactyly, Type Iii according to GeneCards Suite gene sharing:

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.8 LMBR1 ZP2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-143 9.8 GJC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.8 ZP2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.8 GJC1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.8 GJC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.8 ZP2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.8 ZP2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 9.8 GJC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.8 GJC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.8 GJC1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.8 ZP2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.8 GJC1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.8 GJC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-10 9.58 GJC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.58 HDAC8
16 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 ZP2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.58 HDAC8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.58 GJC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.58 GJC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.58 GJC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.58 GJC1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.58 HDAC8
23 Increased shRNA abundance (Z-score > 2) GR00366-A-38 9.58 HDAC8
24 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.58 ZP2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.58 GJC1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.58 ZP2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 ZP2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.58 GJC1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.58 GJC1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.58 HDAC8
31 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.58 ZP2

MGI Mouse Phenotypes related to Syndactyly, Type Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.86 ANKH FGF16 FMN1 FRAS1 GJA1 GJC1
2 limbs/digits/tail MP:0005371 9.55 ANKH FMN1 FRAS1 GJA1 LMBR1
3 no phenotypic analysis MP:0003012 9.5 AKIRIN1 AKIRIN2 FGF16 FMN1 FRAS1 GJA1
4 skeleton MP:0005390 9.17 ANKH FMN1 FRAS1 GJA1 HDAC8 LMBR1

Drugs & Therapeutics for Syndactyly, Type Iii

Search Clinical Trials , NIH Clinical Center for Syndactyly, Type Iii

Cochrane evidence based reviews: syndactyly, type 3

Genetic Tests for Syndactyly, Type Iii

Genetic tests related to Syndactyly, Type Iii:

# Genetic test Affiliating Genes
1 Syndactyly Type 3 29 GJA1

Anatomical Context for Syndactyly, Type Iii

MalaCards organs/tissues related to Syndactyly, Type Iii:

40
Heart

Publications for Syndactyly, Type Iii

Articles related to Syndactyly, Type Iii:

(show all 15)
# Title Authors PMID Year
1
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. 57 6
14729836 2004
2
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? 6 57
2157843 1990
3
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 57 61
12457340 2003
4
Familial syndactyly type III--report of a large pedigree. 57 61
8313625 1993
5
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. 57
9002680 1997
6
Syndactyly of the ring and small finger. 57
8031535 1994
7
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. 57
8110413 1993
8
Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia. 57
6249060 1980
9
Syndactyly of the ring and little finger. 57
14361398 1955
10
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. 61
27966732 2016
11
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. 61
23951358 2013
12
Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family. 61
22826718 2012
13
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. 61
19638688 2009
14
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. 61
8988167 1997
15
Generalized microdontia and associated anomalies: a clinical, genetic, radiologic and dermatoglyphic study. 61
8619979 1996

Variations for Syndactyly, Type Iii

ClinVar genetic disease variations for Syndactyly, Type Iii:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJA1 NM_000165.5(GJA1):c.427G>A (p.Gly143Ser) SNV Pathogenic 16987 rs28931600 GRCh37: 6:121768420-121768420
GRCh38: 6:121447274-121447274
2 GJA1 NM_000165.5(GJA1):c.486G>C (p.Lys162Asn) SNV Likely pathogenic 374189 rs1057518960 GRCh37: 6:121768479-121768479
GRCh38: 6:121447333-121447333
3 HDAC8 NM_018486.3(HDAC8):c.584T>G (p.Val195Gly) SNV Likely pathogenic 523523 rs1556009247 GRCh37: X:71710823-71710823
GRCh38: X:72490973-72490973
4 GJA1 NM_000165.5(GJA1):c.*635C>T SNV Uncertain significance 355174 rs886061015 GRCh37: 6:121769777-121769777
GRCh38: 6:121448631-121448631
5 GJA1 NM_000165.5(GJA1):c.*926A>T SNV Uncertain significance 906697 GRCh37: 6:121770068-121770068
GRCh38: 6:121448922-121448922
6 GJA1 NM_000165.5(GJA1):c.-87C>T SNV Uncertain significance 906469 GRCh37: 6:121756908-121756908
GRCh38: 6:121435762-121435762
7 GJA1 NM_000165.5(GJA1):c.*301C>T SNV Uncertain significance 905042 GRCh37: 6:121769443-121769443
GRCh38: 6:121448297-121448297
8 GJA1 NM_000165.5(GJA1):c.*444A>G SNV Uncertain significance 906626 GRCh37: 6:121769586-121769586
GRCh38: 6:121448440-121448440
9 GJA1 NM_000165.5(GJA1):c.*521G>C SNV Uncertain significance 907650 GRCh37: 6:121769663-121769663
GRCh38: 6:121448517-121448517
10 GJA1 NM_000165.5(GJA1):c.*992G>A SNV Uncertain significance 906698 GRCh37: 6:121770134-121770134
GRCh38: 6:121448988-121448988
11 GJA1 NM_000165.5(GJA1):c.129A>G (p.Ser43=) SNV Uncertain significance 904141 GRCh37: 6:121768122-121768122
GRCh38: 6:121446976-121446976
12 GJA1 NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr) SNV Uncertain significance 906512 GRCh37: 6:121768705-121768705
GRCh38: 6:121447559-121447559
13 GJA1 NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr) SNV Uncertain significance 904976 GRCh37: 6:121768886-121768886
GRCh38: 6:121447740-121447740
14 GJA1 NM_000165.5(GJA1):c.*750G>A SNV Uncertain significance 904321 GRCh37: 6:121769892-121769892
GRCh38: 6:121448746-121448746
15 GJA1 NM_000165.5(GJA1):c.*832C>G SNV Uncertain significance 905120 GRCh37: 6:121769974-121769974
GRCh38: 6:121448828-121448828
16 GJA1 NM_000165.5(GJA1):c.*888C>A SNV Uncertain significance 905121 GRCh37: 6:121770030-121770030
GRCh38: 6:121448884-121448884
17 GJA1 NM_000165.5(GJA1):c.*1252A>G SNV Uncertain significance 905180 GRCh37: 6:121770394-121770394
GRCh38: 6:121449248-121449248
18 GJA1 NM_000165.5(GJA1):c.*1334T>C SNV Uncertain significance 905181 GRCh37: 6:121770476-121770476
GRCh38: 6:121449330-121449330
19 GJA1 NM_000165.5(GJA1):c.*163G>A SNV Uncertain significance 355166 rs886061011 GRCh37: 6:121769305-121769305
GRCh38: 6:121448159-121448159
20 GJA1 NM_000165.5(GJA1):c.270C>G (p.Leu90=) SNV Uncertain significance 355159 rs886061009 GRCh37: 6:121768263-121768263
GRCh38: 6:121447117-121447117
21 GJA1 NM_000165.5(GJA1):c.*1101T>C SNV Uncertain significance 355185 rs886061022 GRCh37: 6:121770243-121770243
GRCh38: 6:121449097-121449097
22 GJA1 NM_000165.5(GJA1):c.886T>C (p.Ser296Pro) SNV Uncertain significance 904196 GRCh37: 6:121768879-121768879
GRCh38: 6:121447733-121447733
23 GJA1 NM_000165.5(GJA1):c.*212A>T SNV Uncertain significance 904251 GRCh37: 6:121769354-121769354
GRCh38: 6:121448208-121448208
24 GJA1 NM_000165.5(GJA1):c.*1143T>G SNV Uncertain significance 904386 GRCh37: 6:121770285-121770285
GRCh38: 6:121449139-121449139
25 GJA1 NM_000165.5(GJA1):c.*1204A>G SNV Uncertain significance 904387 GRCh37: 6:121770346-121770346
GRCh38: 6:121449200-121449200
26 GJA1 NM_000165.5(GJA1):c.-197T>G SNV Uncertain significance 904853 GRCh37: 6:121756798-121756798
GRCh38: 6:121435652-121435652
27 GJA1 NM_000165.5(GJA1):c.483C>G (p.Phe161Leu) SNV Uncertain significance 904918 GRCh37: 6:121768476-121768476
GRCh38: 6:121447330-121447330
28 GJA1 NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) SNV Uncertain significance 355162 rs772121642 GRCh37: 6:121769008-121769008
GRCh38: 6:121447862-121447862
29 GJA1 NM_000165.5(GJA1):c.*538G>A SNV Uncertain significance 355173 rs886061014 GRCh37: 6:121769680-121769680
GRCh38: 6:121448534-121448534
30 GJA1 NM_000165.5(GJA1):c.*214G>A SNV Uncertain significance 355169 rs549064986 GRCh37: 6:121769356-121769356
GRCh38: 6:121448210-121448210
31 GJA1 NM_000165.5(GJA1):c.*694T>C SNV Uncertain significance 355175 rs886061016 GRCh37: 6:121769836-121769836
GRCh38: 6:121448690-121448690
32 GJA1 NM_000165.5(GJA1):c.*285A>T SNV Uncertain significance 355171 rs72548748 GRCh37: 6:121769427-121769427
GRCh38: 6:121448281-121448281
33 GJA1 NM_000165.5(GJA1):c.*1077T>C SNV Uncertain significance 355184 rs528853645 GRCh37: 6:121770219-121770219
GRCh38: 6:121449073-121449073
34 GJA1 NM_000165.5(GJA1):c.*47A>G SNV Uncertain significance 355164 rs886061010 GRCh37: 6:121769189-121769189
GRCh38: 6:121448043-121448043
35 GJA1 NM_000165.5(GJA1):c.*1043T>C SNV Uncertain significance 355183 rs886061021 GRCh37: 6:121770185-121770185
GRCh38: 6:121449039-121449039
36 GJA1 NM_000165.5(GJA1):c.*191G>A SNV Uncertain significance 355168 rs886061012 GRCh37: 6:121769333-121769333
GRCh38: 6:121448187-121448187
37 GJA1 NM_000165.5(GJA1):c.-161G>T SNV Uncertain significance 355155 rs764033415 GRCh37: 6:121756834-121756834
GRCh38: 6:121435688-121435688
38 GJA1 NM_000165.5(GJA1):c.*529C>G SNV Uncertain significance 355172 rs886061013 GRCh37: 6:121769671-121769671
GRCh38: 6:121448525-121448525
39 GJA1 NM_000165.5(GJA1):c.-188G>T SNV Uncertain significance 355154 rs886061008 GRCh37: 6:121756807-121756807
GRCh38: 6:121435661-121435661
40 GJA1 NM_000165.5(GJA1):c.837G>A (p.Ser279=) SNV Likely benign 355161 rs67407537 GRCh37: 6:121768830-121768830
GRCh38: 6:121447684-121447684
41 GJA1 NM_000165.5(GJA1):c.-67C>G SNV Benign 355157 rs111581053 GRCh37: 6:121756928-121756928
GRCh38: 6:121435782-121435782
42 GJA1 NM_000165.5(GJA1):c.*173G>A SNV Benign 355167 rs72548744 GRCh37: 6:121769315-121769315
GRCh38: 6:121448169-121448169
43 GJA1 NM_000165.5(GJA1):c.*119T>C SNV Benign 355165 rs72548742 GRCh37: 6:121769261-121769261
GRCh38: 6:121448115-121448115
44 GJA1 NM_000165.5(GJA1):c.*968T>C SNV Benign 355180 rs111878880 GRCh37: 6:121770110-121770110
GRCh38: 6:121448964-121448964
45 GJA1 NM_000165.5(GJA1):c.*243A>G SNV Benign 355170 rs139128953 GRCh37: 6:121769385-121769385
GRCh38: 6:121448239-121448239
46 GJA1 NM_000165.5(GJA1):c.-135C>T SNV Benign 355156 rs539558089 GRCh37: 6:121756860-121756860
GRCh38: 6:121435714-121435714
47 GJA1 NM_000165.5(GJA1):c.612G>A (p.Thr204=) SNV Benign 697127 rs766082259 GRCh37: 6:121768605-121768605
GRCh38: 6:121447459-121447459
48 GJA1 NM_000165.5(GJA1):c.*1322A>T SNV Benign 355186 rs12212865 GRCh37: 6:121770464-121770464
GRCh38: 6:121449318-121449318
49 GJA1 NM_000165.5(GJA1):c.-16-12T>A SNV Benign 355158 rs56199702 GRCh37: 6:121767966-121767966
GRCh38: 6:121446820-121446820
50 GJA1 NM_000165.5(GJA1):c.706G>A (p.Val236Ile) SNV Benign 904919 GRCh37: 6:121768699-121768699
GRCh38: 6:121447553-121447553

UniProtKB/Swiss-Prot genetic disease variations for Syndactyly, Type Iii:

72
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Gly143Ser VAR_038361 rs28931600

Expression for Syndactyly, Type Iii

Search GEO for disease gene expression data for Syndactyly, Type Iii.

Pathways for Syndactyly, Type Iii

GO Terms for Syndactyly, Type Iii

Cellular components related to Syndactyly, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.26 GJC1 GJA1
2 multivesicular body GO:0005771 9.16 ZP2 GJA1
3 gap junction GO:0005921 8.96 GJC1 GJA1
4 connexin complex GO:0005922 8.62 GJC1 GJA1

Biological processes related to Syndactyly, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.43 GJC1 GJA1 FGF16
2 binding of sperm to zona pellucida GO:0007339 9.32 ZP2 ZAN
3 atrial cardiac muscle cell action potential GO:0086014 9.16 GJC1 GJA1
4 gap junction assembly GO:0016264 8.96 GJC1 GJA1
5 cell communication GO:0007154 8.8 GJC1 GJA1 FRAS1

Molecular functions related to Syndactyly, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJC1 GJA1

Sources for Syndactyly, Type Iii

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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