TBS1
MCID: TWN011
MIFTS: 34

Townes-Brocks Syndrome 1 (TBS1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Townes-Brocks Syndrome 1

MalaCards integrated aliases for Townes-Brocks Syndrome 1:

Name: Townes-Brocks Syndrome 1 57 72 29 6
Townes-Brocks Branchiootorenal-Like Syndrome 57 72 13
Deafness, Sensorineural, with Imperforate Anus and Thumb Anomalies 57 72
Anus, Imperforate, with Hand, Foot, and Ear Anomalies 57 72
Townes-Brocks-Branchiootorenal-Like Syndrome 29 6
Renal-Ear-Anal-Radial Syndrome 57 72
Rear Syndrome 57 72
Tbs1 57 72
Syndrome, Townes-Brocks, Type 1 39

Characteristics:

OMIM®:

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


HPO:

31
townes-brocks syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Townes-Brocks Syndrome 1

UniProtKB/Swiss-Prot : 72 Townes-Brocks syndrome 1: A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease.

MalaCards based summary : Townes-Brocks Syndrome 1, also known as townes-brocks branchiootorenal-like syndrome, is related to townes-brocks syndrome. An important gene associated with Townes-Brocks Syndrome 1 is SALL1 (Spalt Like Transcription Factor 1). Affiliated tissues include uterus, cortex and cingulate cortex, and related phenotypes are duane anomaly and global developmental delay

OMIM® : 57 Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). (107480) (Updated 20-May-2021)

Related Diseases for Townes-Brocks Syndrome 1

Diseases in the Townes-Brocks Syndrome family:

Townes-Brocks Syndrome 1 Townes-Brocks Syndrome 2

Diseases related to Townes-Brocks Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 townes-brocks syndrome 11.7

Symptoms & Phenotypes for Townes-Brocks Syndrome 1

Human phenotypes related to Townes-Brocks Syndrome 1:

31 (show all 46)
# Description HPO Frequency HPO Source Accession
1 duane anomaly 31 occasional (7.5%) HP:0009921
2 global developmental delay 31 very rare (1%) HP:0001263
3 sensorineural hearing impairment 31 very rare (1%) HP:0000407
4 anal atresia 31 very rare (1%) HP:0002023
5 hypospadias 31 very rare (1%) HP:0000047
6 ventricular septal defect 31 very rare (1%) HP:0001629
7 triphalangeal thumb 31 very rare (1%) HP:0001199
8 intellectual disability 31 HP:0001249
9 hypothyroidism 31 HP:0000821
10 macrotia 31 HP:0000400
11 umbilical hernia 31 HP:0001537
12 microtia 31 HP:0008551
13 microcephaly 31 HP:0000252
14 broad thumb 31 HP:0011304
15 gastroesophageal reflux 31 HP:0002020
16 renal insufficiency 31 HP:0000083
17 cryptorchidism 31 HP:0000028
18 bifid scrotum 31 HP:0000048
19 chorioretinal coloboma 31 HP:0000567
20 tetralogy of fallot 31 HP:0001636
21 vesicoureteral reflux 31 HP:0000076
22 preauricular skin tag 31 HP:0000384
23 renal hypoplasia 31 HP:0000089
24 preaxial hand polydactyly 31 HP:0001177
25 multicystic kidney dysplasia 31 HP:0000003
26 rectovaginal fistula 31 HP:0000143
27 rectoperineal fistula 31 HP:0004792
28 partial duplication of thumb phalanx 31 HP:0009944
29 aplasia/hypoplasia of the 3rd toe 31 HP:0010331
30 urethral valve 31 HP:0010481
31 preauricular pit 31 HP:0004467
32 anal stenosis 31 HP:0002025
33 duodenal atresia 31 HP:0002247
34 short metatarsal 31 HP:0010743
35 renal dysplasia 31 HP:0000110
36 2-3 toe syndactyly 31 HP:0004691
37 clinodactyly of the 5th toe 31 HP:0001864
38 bifid uterus 31 HP:0000136
39 metatarsal synostosis 31 HP:0001440
40 3-4 finger syndactyly 31 HP:0006097
41 overfolding of the superior helices 31 HP:0004453
42 3-4 toe syndactyly 31 HP:0009779
43 pseudoepiphyses of second metacarpal 31 HP:0006179
44 2-4 finger syndactyly 31 HP:0010709
45 satyr ear 31 HP:0030676
46 stahl ear 31 HP:0100015

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
umbilical hernia
gastroesophageal reflux
anal stenosis
duodenal atresia
imperforate anus
more
Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect

Genitourinary Internal Genitalia Female:
rectovaginal fistula
bifid uterus
vaginal aplasia

Genitourinary Kidneys:
renal failure
hypoplastic kidneys
multicystic kidneys
dysplastic kidneys

Genitourinary Bladder:
urethral valves

Endocrine Features:
hypothyroidism (rare)

Head And Neck Ears:
microtia
satyr ear
overfolding of superior helix
large ears
preauricular tags
more
Skeletal Hands:
broad thumb
triphalangeal thumb
preaxial polydactyly
pseudoepiphyses of second metacarpal
bifid thumb
more
Genitourinary External Genitalia Male:
bifid scrotum
hypospadias
prominent midline perineal raphe

Genitourinary Ureters:
vesicoureteral reflux

Skeletal Feet:
3-4 toe syndactyly
short metatarsals
fusion of metatarsals
absent/hypoplastic third toe
fifth toe clinodactyly

Head And Neck Eyes:
chorioretinal coloboma (rare)
duane anomaly (rare)

Neurologic Central Nervous System:
mental retardation (rarely noted)

Clinical features from OMIM®:

107480 (Updated 20-May-2021)

Drugs & Therapeutics for Townes-Brocks Syndrome 1

Search Clinical Trials , NIH Clinical Center for Townes-Brocks Syndrome 1

Genetic Tests for Townes-Brocks Syndrome 1

Genetic tests related to Townes-Brocks Syndrome 1:

# Genetic test Affiliating Genes
1 Townes-Brocks Syndrome 1 29 SALL1
2 Townes-Brocks-Branchiootorenal-Like Syndrome 29

Anatomical Context for Townes-Brocks Syndrome 1

MalaCards organs/tissues related to Townes-Brocks Syndrome 1:

40
Uterus, Cortex, Cingulate Cortex, Kidney, Heart

Publications for Townes-Brocks Syndrome 1

Articles related to Townes-Brocks Syndrome 1:

(show all 47)
# Title Authors PMID Year
1
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. 57 6
29395072 2018
2
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 6 57
18000979 2007
3
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 6 57
17431915 2007
4
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 57 6
16088922 2005
5
Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. 57 6
14755477 2004
6
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. 6 57
11484202 2001
7
A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. 57 6
10928856 2000
8
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. 57 6
9425907 1998
9
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. 57
28054444 2017
10
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6
26380986 2015
11
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. 6
22308078 2012
12
Phenotypic variability in a family with Townes-Brocks syndrome. 57
20520617 2010
13
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). 6
19005989 2008
14
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 6
17221874 2007
15
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. 6
16429401 2006
16
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. 6
14627694 2003
17
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. 6
11478532 2001
18
SALL1 mutations in Townes-Brocks syndrome and related disorders. 6
11102974 2000
19
Townes-Brocks syndrome. 57
10051003 1999
20
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 6
9973281 1999
21
Two cases of Townes-Brocks syndrome. 57
10631923 1999
22
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. 6
10533063 1999
23
Townes-Brocks syndrome presenting as end stage renal failure. 57
9072124 1997
24
Townes-Brocks syndrome associated with mental retardation. 57
8669452 1996
25
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. 57
8669439 1996
26
Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome? 6
8133838 1993
27
Townes-Brocks syndrome in an infant with translocation t (5;16). 57
8357560 1993
28
Townes-Brocks syndrome in two mentally retarded youngsters. 57
1951448 1991
29
The Townes-Brocks syndrome. 57
2395165 1990
30
Townes-Brocks syndrome. Report of a case and review of the literature. 57
2667456 1989
31
A new family with the Townes-Brocks syndrome. 57
3180506 1988
32
Phenotypic variability in Townes-Brocks syndrome. 57
6741990 1984
33
Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. 57
7199082 1982
34
Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. 57
671168 1978
35
More on anal deformities. 57
830935 1977
36
Familial and abnormality. 57
1271203 1976
37
The Holt-Oram syndrome with previously undescribed associated anomalies. 57
4639228 1972
38
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. 57
5042490 1972
39
[Positive effect of low-activity thromboxane A synthase gene on prognosis in coronary heart disease]. 61
26027242 2015
40
[CLINICAL AND PHARMACOLOGICAL FACTORS INFLUENCING RESISTANCE TO CLOPIDOGREL IN PATIENTS WITH CARDIOVASCULAR DISEASES]. 61
26117917 2015
41
Structural and mechanistic insights into the recruitment of talin by RIAM in integrin signaling. 61
25465129 2014
42
Transplantation of SIRT1-engineered aged mesenchymal stem cells improves cardiac function in a rat myocardial infarction model. 61
25034794 2014
43
Angiogenic properties of aged adipose derived mesenchymal stem cells after hypoxic conditioning. 61
21244679 2011
44
Differential effects of long and short train theta burst stimulation on LTP induction in rat anterior cingulate cortex slices: multi-electrode array recordings. 61
19784087 2009
45
Reproducibility of classification and correction for verification bias as determinants of performance of Papanicolaou smear cytology in the screening setting: experience from the New Independent States of the former Soviet Union cohort study. 61
19798883 2009
46
Bond strength and degree of infiltration between acrylic resin denture liner after immersion in effervescent denture cleanser. 61
19178623 2009
47
Multigenic control of disease severity after virulent Mycobacterium tuberculosis infection in mice. 61
12496157 2003

Variations for Townes-Brocks Syndrome 1

ClinVar genetic disease variations for Townes-Brocks Syndrome 1:

6 (show top 50) (show all 94)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SALL1 NM_002968.3(SALL1):c.1821del (p.Leu608fs) Deletion Pathogenic 7432 rs1597229721 GRCh37: 16:51174312-51174312
GRCh38: 16:51140401-51140401
2 SALL1 NM_002968.2(SALL1):c.1108_1109del (p.Val370fs) Deletion Pathogenic 426114 rs1085307143 GRCh37: 16:51175024-51175025
GRCh38: 16:51141113-51141114
3 SALL1 NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) SNV Pathogenic 7434 rs104894538 GRCh37: 16:51175166-51175166
GRCh38: 16:51141255-51141255
4 SALL1 NM_002968.3(SALL1):c.1324del (p.Ser442fs) Deletion Pathogenic 648831 rs1597230288 GRCh37: 16:51174809-51174809
GRCh38: 16:51140898-51140898
5 SALL1 NM_002968.2(SALL1):c.1214dup (p.Leu406fs) Duplication Pathogenic 459257 rs1555475275 GRCh37: 16:51174918-51174919
GRCh38: 16:51141007-51141008
6 SALL1 NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) SNV Pathogenic 7434 rs104894538 GRCh37: 16:51175166-51175166
GRCh38: 16:51141255-51141255
7 SALL1 NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) Duplication Pathogenic 807481 rs1597228568 GRCh37: 16:51173443-51173444
GRCh38: 16:51139532-51139533
8 SALL1 NM_002968.3(SALL1):c.420del (p.Ser141fs) Deletion Pathogenic 934902 GRCh37: 16:51175713-51175713
GRCh38: 16:51141802-51141802
9 SALL1 NM_002968.3(SALL1):c.750dup (p.Arg251fs) Duplication Pathogenic 947631 GRCh37: 16:51175382-51175383
GRCh38: 16:51141471-51141472
10 SALL1 NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) SNV Pathogenic 936315 GRCh37: 16:51175262-51175262
GRCh38: 16:51141351-51141351
11 SALL1 NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs) Deletion Pathogenic 663219 rs1597228188 GRCh37: 16:51173125-51173128
GRCh38: 16:51139214-51139217
12 SALL1 NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) SNV Pathogenic 7428 rs104894537 GRCh37: 16:51175307-51175307
GRCh38: 16:51141396-51141396
13 SALL1 NC_000016.10:g.(?_51137092)_(51151261_?)del Deletion Pathogenic 528884 GRCh37: 16:51171003-51185172
GRCh38: 16:51137092-51151261
14 SALL1 NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs) Insertion Pathogenic 983477 GRCh37: 16:51174767-51174768
GRCh38: 16:51140856-51140857
15 SALL1 NM_002968.2(SALL1):c.2356del (p.Arg786fs) Deletion Pathogenic 528881 rs1555475106 GRCh37: 16:51173777-51173777
GRCh38: 16:51139866-51139866
16 SALL1 NM_002968.2(SALL1):c.958C>T (p.Gln320Ter) SNV Pathogenic 528880 rs1555475319 GRCh37: 16:51175175-51175175
GRCh38: 16:51141264-51141264
17 SALL1 NM_002968.2(SALL1):c.866T>A (p.Leu289Ter) SNV Pathogenic 528879 rs1555475334 GRCh37: 16:51175267-51175267
GRCh38: 16:51141356-51141356
18 SALL1 NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs) Deletion Pathogenic 418466 rs1064793257 GRCh37: 16:51172718-51172719
GRCh38: 16:51138807-51138808
19 SALL1 NM_002968.2(SALL1):c.2256del (p.Tyr753fs) Deletion Pathogenic 459258 rs1555475120 GRCh37: 16:51173877-51173877
GRCh38: 16:51139966-51139966
20 SALL1 NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) SNV Pathogenic 219151 rs864321635 GRCh37: 16:51172973-51172973
GRCh38: 16:51139062-51139062
21 SALL1 SALL1, 2-BP DEL, 3414AT Deletion Pathogenic 7437 GRCh37:
GRCh38:
22 SALL1 NM_002968.3(SALL1):c.995del (p.Pro332fs) Deletion Pathogenic 7436 rs1597230687 GRCh37: 16:51175138-51175138
GRCh38: 16:51141227-51141227
23 SALL1 NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter) SNV Pathogenic 7435 rs137853084 GRCh37: 16:51174877-51174877
GRCh38: 16:51140966-51140966
24 SALL1 NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) SNV Pathogenic 7434 rs104894538 GRCh37: 16:51175166-51175166
GRCh38: 16:51141255-51141255
25 SALL1 NM_002968.3(SALL1):c.792_793del (p.Leu264fs) Deletion Pathogenic 7433 rs1597230909 GRCh37: 16:51175340-51175341
GRCh38: 16:51141429-51141430
26 SALL1 NM_001127892.1(SALL1):c.1054_1055CA[1] (p.His352fs) Microsatellite Pathogenic 7431 rs1597230241 GRCh37: 16:51174785-51174786
GRCh38: 16:51140874-51140875
27 SALL1 NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs) Deletion Pathogenic 7430 rs1597230341 GRCh37: 16:51174855-51174856
GRCh38: 16:51140944-51140945
28 SALL1 NM_002968.2(SALL1):c.1115C>G (p.Ser372Ter) SNV Pathogenic 7429 rs104894535 GRCh37: 16:51175018-51175018
GRCh38: 16:51141107-51141107
29 SALL1 NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) SNV Pathogenic 7428 rs104894537 GRCh37: 16:51175307-51175307
GRCh38: 16:51141396-51141396
30 SALL1 NM_002968.2(SALL1):c.1115C>A (p.Ser372Ter) SNV Pathogenic 7427 rs104894535 GRCh37: 16:51175018-51175018
GRCh38: 16:51141107-51141107
31 SALL1 NM_002968.3(SALL1):c.1270del (p.Gln424fs) Deletion Pathogenic 7426 rs1597230349 GRCh37: 16:51174863-51174863
GRCh38: 16:51140952-51140952
32 SALL1 NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter) SNV Pathogenic 973255 GRCh37: 16:51174260-51174260
GRCh38: 16:51140349-51140349
33 SALL1 NM_002968.3(SALL1):c.269dup (p.Pro91fs) Duplication Likely pathogenic 1048611 GRCh37: 16:51175863-51175864
GRCh38: 16:51141952-51141953
34 SALL1 NM_002968.3(SALL1):c.2801del (p.Ser934fs) Deletion Likely pathogenic 829881 rs1597228490 GRCh37: 16:51173332-51173332
GRCh38: 16:51139421-51139421
35 SALL1 NM_002968.3(SALL1):c.2287dup (p.Arg763fs) Duplication Likely pathogenic 830013 rs1597229151 GRCh37: 16:51173845-51173846
GRCh38: 16:51139934-51139935
36 SALL1 NM_002968.2(SALL1):c.475_477delAGC Microsatellite Conflicting interpretations of pathogenicity 195187 rs113614842 GRCh37: 16:51175656-51175658
GRCh38: 16:51141745-51141747
37 SALL1 NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) SNV Conflicting interpretations of pathogenicity 208167 rs864621971 GRCh37: 16:51175184-51175184
GRCh38: 16:51141273-51141273
38 SALL1 NM_002968.3(SALL1):c.1514A>G (p.His505Arg) SNV Uncertain significance 693986 rs776094507 GRCh37: 16:51174619-51174619
GRCh38: 16:51140708-51140708
39 SALL1 NM_002968.2(SALL1):c.3938G>A (p.Arg1313His) SNV Uncertain significance 426902 rs529030284 GRCh37: 16:51171060-51171060
GRCh38: 16:51137149-51137149
40 SALL1 NM_002968.3(SALL1):c.424G>A (p.Gly142Ser) SNV Uncertain significance 854286 GRCh37: 16:51175709-51175709
GRCh38: 16:51141798-51141798
41 SALL1 NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val) SNV Uncertain significance 1006535 GRCh37: 16:51173045-51173045
GRCh38: 16:51139134-51139134
42 SALL1 NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) SNV Uncertain significance 982425 GRCh37: 16:51171216-51171216
GRCh38: 16:51137305-51137305
43 SALL1 NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) SNV Uncertain significance 771794 rs761053549 GRCh37: 16:51175430-51175430
GRCh38: 16:51141519-51141519
44 SALL1 NM_001127892.1(SALL1):c.*920_*922CTT[2] Microsatellite Uncertain significance 319579 rs527584319 GRCh37: 16:51170095-51170097
GRCh38: 16:51136184-51136186
45 SALL1 NM_002968.2(SALL1):c.*1033dup Duplication Uncertain significance 319576 rs551604859 GRCh37: 16:51169989-51169990
GRCh38: 16:51136078-51136079
46 SALL1 NM_001127892.1(SALL1):c.157_159AGC[7] (p.Ser60_Ser62del) Microsatellite Uncertain significance 224343 rs113614842 GRCh37: 16:51175656-51175664
GRCh38: 16:51141745-51141753
47 SALL1 NM_002968.2(SALL1):c.*705_*706del Deletion Uncertain significance 319583 rs886052076 GRCh37: 16:51170317-51170318
GRCh38: 16:51136406-51136407
48 SALL1 NM_002968.2(SALL1):c.43G>A (p.Asp15Asn) SNV Uncertain significance 319622 rs886052085 GRCh37: 16:51185110-51185110
GRCh38: 16:51151199-51151199
49 SALL1 NM_002968.2(SALL1):c.477_478insAGCAGCGGC (p.Gly160_Gly161insSerSerGly) Insertion Uncertain significance 523050 rs1555475415 GRCh37: 16:51175655-51175656
GRCh38: 16:51141744-51141745
50 SALL1 NM_002968.2(SALL1):c.3584G>A (p.Arg1195Gln) SNV Uncertain significance 574766 rs1030315086 GRCh37: 16:51171414-51171414
GRCh38: 16:51137503-51137503

Expression for Townes-Brocks Syndrome 1

Search GEO for disease gene expression data for Townes-Brocks Syndrome 1.

Pathways for Townes-Brocks Syndrome 1

GO Terms for Townes-Brocks Syndrome 1

Sources for Townes-Brocks Syndrome 1

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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