TBS1
MCID: TWN011
MIFTS: 35

Townes-Brocks Syndrome 1 (TBS1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Townes-Brocks Syndrome 1

MalaCards integrated aliases for Townes-Brocks Syndrome 1:

Name: Townes-Brocks Syndrome 1 57 73 28 5
Townes-Brocks Branchiootorenal-Like Syndrome 57 73 12
Deafness, Sensorineural, with Imperforate Anus and Thumb Anomalies 57 73
Anus, Imperforate, with Hand, Foot, and Ear Anomalies 57 73
Townes-Brocks-Branchiootorenal-Like Syndrome 28 5
Renal-Ear-Anal-Radial Syndrome 57 73
Rear Syndrome 57 73
Tbs1 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



Summaries for Townes-Brocks Syndrome 1

UniProtKB/Swiss-Prot: 73 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 heart, uterus and kidney, and related phenotypes are duane anomaly and hydrocephalus

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 08-Dec-2022)

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:

30 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 duane anomaly 30 Occasional (7.5%) HP:0009921
2 hydrocephalus 30 Very rare (1%) HP:0000238
3 global developmental delay 30 Very rare (1%) HP:0001263
4 microtia 30 Very rare (1%) HP:0008551
5 sensorineural hearing impairment 30 Very rare (1%) HP:0000407
6 broad thumb 30 Very rare (1%) HP:0011304
7 atrial septal defect 30 Very rare (1%) HP:0001631
8 anal atresia 30 Very rare (1%) HP:0002023
9 choanal atresia 30 Very rare (1%) HP:0000453
10 preauricular skin tag 30 Very rare (1%) HP:0000384
11 holoprosencephaly 30 Very rare (1%) HP:0001360
12 talipes 30 Very rare (1%) HP:0001883
13 tracheoesophageal fistula 30 Very rare (1%) HP:0002575
14 hypospadias 30 Very rare (1%) HP:0000047
15 renal hypoplasia 30 Very rare (1%) HP:0000089
16 ventricular septal defect 30 Very rare (1%) HP:0001629
17 preaxial hand polydactyly 30 Very rare (1%) HP:0001177
18 tethered cord 30 Very rare (1%) HP:0002144
19 rectovaginal fistula 30 Very rare (1%) HP:0000143
20 triphalangeal thumb 30 Very rare (1%) HP:0001199
21 rectoperineal fistula 30 Very rare (1%) HP:0004792
22 small for gestational age 30 Very rare (1%) HP:0001518
23 3-4 finger syndactyly 30 Very rare (1%) HP:0006097
24 lop ear 30 Very rare (1%) HP:0000394
25 4-5 toe syndactyly 30 Very rare (1%) HP:0004692
26 1-2 toe syndactyly 30 Very rare (1%) HP:0010711
27 intellectual disability 30 HP:0001249
28 hypothyroidism 30 HP:0000821
29 macrotia 30 HP:0000400
30 umbilical hernia 30 HP:0001537
31 microcephaly 30 HP:0000252
32 gastroesophageal reflux 30 HP:0002020
33 renal insufficiency 30 HP:0000083
34 cryptorchidism 30 HP:0000028
35 bifid scrotum 30 HP:0000048
36 chorioretinal coloboma 30 HP:0000567
37 tetralogy of fallot 30 HP:0001636
38 vesicoureteral reflux 30 HP:0000076
39 multicystic kidney dysplasia 30 HP:0000003
40 partial duplication of thumb phalanx 30 HP:0009944
41 aplasia/hypoplasia of the 3rd toe 30 HP:0010331
42 urethral valve 30 HP:0010481
43 preauricular pit 30 HP:0004467
44 anal stenosis 30 HP:0002025
45 duodenal atresia 30 HP:0002247
46 short metatarsal 30 HP:0010743
47 renal dysplasia 30 HP:0000110
48 2-3 toe syndactyly 30 HP:0004691
49 clinodactyly of the 5th toe 30 HP:0001864
50 bifid uterus 30 HP:0000136

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 28 SALL1
2 Townes-Brocks-Branchiootorenal-Like Syndrome 28

Anatomical Context for Townes-Brocks Syndrome 1

Organs/tissues related to Townes-Brocks Syndrome 1:

MalaCards : Heart, Uterus, Kidney, Skin, Cingulate Cortex, Cortex
ODiseA: Kidney

Publications for Townes-Brocks Syndrome 1

Articles related to Townes-Brocks Syndrome 1:

(show all 43)
# Title Authors PMID Year
1
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 57 5
18000979 2007
2
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 57 5
17431915 2007
3
Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. 57 5
14755477 2004
4
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. 57 5
11484202 2001
5
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. 57 5
11478532 2001
6
A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. 57 5
10928856 2000
7
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. 57 5
9425907 1998
8
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. 57
29395072 2018
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. 5
26380986 2015
11
Phenotypic variability in a family with Townes-Brocks syndrome. 57
20520617 2010
12
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 5
17221874 2007
13
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 57
16088922 2005
14
SALL1 mutations in Townes-Brocks syndrome and related disorders. 5
11102974 2000
15
Townes-Brocks syndrome. 57
10051003 1999
16
Two cases of Townes-Brocks syndrome. 57
10631923 1999
17
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. 5
10533063 1999
18
Townes-Brocks syndrome presenting as end stage renal failure. 57
9072124 1997
19
Townes-Brocks syndrome associated with mental retardation. 57
8669452 1996
20
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. 57
8669439 1996
21
Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome? 5
8133838 1993
22
Townes-Brocks syndrome in an infant with translocation t (5;16). 57
8357560 1993
23
Townes-Brocks syndrome in two mentally retarded youngsters. 57
1951448 1991
24
The Townes-Brocks syndrome. 57
2395165 1990
25
Townes-Brocks syndrome. Report of a case and review of the literature. 57
2667456 1989
26
A new family with the Townes-Brocks syndrome. 57
3180506 1988
27
Phenotypic variability in Townes-Brocks syndrome. 57
6741990 1984
28
Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. 57
7199082 1982
29
Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. 57
671168 1978
30
More on anal deformities. 57
830935 1977
31
Additional experience with routine use of oral kanamycin prophylaxis for necrotizing enterocolitis in infants under 1,500 grams. 57
830936 1977
32
Familial and abnormality. 57
1271203 1976
33
The Holt-Oram syndrome with previously undescribed associated anomalies. 57
4639228 1972
34
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. 57
5042490 1972
35
[CLINICAL AND PHARMACOLOGICAL FACTORS INFLUENCING RESISTANCE TO CLOPIDOGREL IN PATIENTS WITH CARDIOVASCULAR DISEASES]. 62
26117917 2015
36
[Positive effect of low-activity thromboxane A synthase gene on prognosis in coronary heart disease]. 62
26027242 2015
37
Structural and mechanistic insights into the recruitment of talin by RIAM in integrin signaling. 62
25465129 2014
38
Transplantation of SIRT1-engineered aged mesenchymal stem cells improves cardiac function in a rat myocardial infarction model. 62
25034794 2014
39
Angiogenic properties of aged adipose derived mesenchymal stem cells after hypoxic conditioning. 62
21244679 2011
40
Differential effects of long and short train theta burst stimulation on LTP induction in rat anterior cingulate cortex slices: multi-electrode array recordings. 62
19784087 2009
41
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. 62
19798883 2009
42
Bond strength and degree of infiltration between acrylic resin denture liner after immersion in effervescent denture cleanser. 62
19178623 2009
43
Multigenic control of disease severity after virulent Mycobacterium tuberculosis infection in mice. 62
12496157 2003

Variations for Townes-Brocks Syndrome 1

ClinVar genetic disease variations for Townes-Brocks Syndrome 1:

5 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SALL1 NM_002968.3(SALL1):c.1270del (p.Gln424fs) DEL Pathogenic
7426 rs1597230349 GRCh37: 16:51174863-51174863
GRCh38: 16:51140952-51140952
2 SALL1 NM_002968.3(SALL1):c.1115C>A (p.Ser372Ter) SNV Pathogenic
7427 rs104894535 GRCh37: 16:51175018-51175018
GRCh38: 16:51141107-51141107
3 SALL1 NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter) SNV Pathogenic
7429 rs104894535 GRCh37: 16:51175018-51175018
GRCh38: 16:51141107-51141107
4 SALL1 NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs) DEL Pathogenic
7430 rs1597230341 GRCh37: 16:51174855-51174856
GRCh38: 16:51140944-51140945
5 SALL1 NM_002968.3(SALL1):c.1347_1348del (p.His449fs) MICROSAT Pathogenic
7431 rs1597230241 GRCh37: 16:51174785-51174786
GRCh38: 16:51140874-51140875
6 SALL1 NM_002968.3(SALL1):c.792_793del (p.Leu264fs) DEL Pathogenic
7433 rs1597230909 GRCh37: 16:51175340-51175341
GRCh38: 16:51141429-51141430
7 SALL1 NM_002968.3(SALL1):c.1256T>A (p.Leu419Ter) SNV Pathogenic
7435 rs137853084 GRCh37: 16:51174877-51174877
GRCh38: 16:51140966-51140966
8 SALL1 NM_002968.3(SALL1):c.995del (p.Pro332fs) DEL Pathogenic
7436 rs1597230687 GRCh37: 16:51175138-51175138
GRCh38: 16:51141227-51141227
9 SALL1 NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) DUP Pathogenic
807481 rs1597228568 GRCh37: 16:51173443-51173444
GRCh38: 16:51139532-51139533
10 SALL1 NM_002968.3(SALL1):c.1108_1109del (p.Val370fs) DEL Pathogenic
426114 rs1085307143 GRCh37: 16:51175024-51175025
GRCh38: 16:51141113-51141114
11 SALL1 NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter) SNV Pathogenic
973255 rs1197587893 GRCh37: 16:51174260-51174260
GRCh38: 16:51140349-51140349
12 SALL1 NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs) INSERT Pathogenic
983477 rs1962410902 GRCh37: 16:51174767-51174768
GRCh38: 16:51140856-51140857
13 SALL1 NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer) INDEL Pathogenic
1679359 GRCh37: 16:51174764-51174770
GRCh38: 16:51140853-51140859
14 SALL1 NM_002968.3(SALL1):c.709C>T (p.Gln237Ter) SNV Pathogenic
1693559 GRCh37: 16:51175424-51175424
GRCh38: 16:51141513-51141513
15 SALL1 NM_002968.3(SALL1):c.967C>T (p.Gln323Ter) SNV Pathogenic
Pathogenic
7434 rs104894538 GRCh37: 16:51175166-51175166
GRCh38: 16:51141255-51141255
16 SALL1 NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) DEL Pathogenic
418466 rs1064793257 GRCh37: 16:51172718-51172719
GRCh38: 16:51138807-51138808
17 SALL1 NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter) SNV Pathogenic
1705680 GRCh37: 16:51174905-51174905
GRCh38: 16:51140994-51140994
18 SALL1 NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) SNV Pathogenic
7428 rs104894537 GRCh37: 16:51175307-51175307
GRCh38: 16:51141396-51141396
19 SALL1 NM_002968.3(SALL1):c.1821del (p.Leu608fs) DEL Pathogenic
7432 rs1597229721 GRCh37: 16:51174312-51174312
GRCh38: 16:51140401-51140401
20 SALL1 NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) SNV Pathogenic/Likely Pathogenic
1679304 GRCh37: 16:51175532-51175532
GRCh38: 16:51141621-51141621
21 SALL1 NM_002968.3(SALL1):c.3381del (p.Arg1128fs) DEL Likely Pathogenic
1333617 GRCh37: 16:51172752-51172752
GRCh38: 16:51138841-51138841
22 SALL1 NM_002968.3(SALL1):c.269dup (p.Pro91fs) DUP Likely Pathogenic
1048611 GRCh37: 16:51175863-51175864
GRCh38: 16:51141952-51141953
23 SALL1 NM_002968.3(SALL1):c.2287dup (p.Arg763fs) DUP Likely Pathogenic
830013 rs1597229151 GRCh37: 16:51173845-51173846
GRCh38: 16:51139934-51139935
24 SALL1 NM_002968.3(SALL1):c.2801del (p.Ser934fs) DEL Likely Pathogenic
829881 rs1597228490 GRCh37: 16:51173332-51173332
GRCh38: 16:51139421-51139421
25 SALL1 NM_002968.3(SALL1):c.2129del (p.Ile710fs) DEL Likely Pathogenic
1700011 GRCh37: 16:51174004-51174004
GRCh38: 16:51140093-51140093
26 SALL1 NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) MICROSAT Conflicting Interpretations Of Pathogenicity
195187 rs113614842 GRCh37: 16:51175656-51175658
GRCh38: 16:51141745-51141747
27 SALL1 NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) SNV Conflicting Interpretations Of Pathogenicity
208167 rs864621971 GRCh37: 16:51175184-51175184
GRCh38: 16:51141273-51141273
28 SALL1 NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe) SNV Uncertain Significance
1699245 GRCh37: 16:51172811-51172811
GRCh38: 16:51138900-51138900
29 SALL1 NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) INSERT Uncertain Significance
523050 rs1555475415 GRCh37: 16:51175655-51175656
GRCh38: 16:51141744-51141745
30 SALL1 NM_002968.3(SALL1):c.424G>C (p.Gly142Arg) SNV Uncertain Significance
1184321 GRCh37: 16:51175709-51175709
GRCh38: 16:51141798-51141798
31 SALL1 NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) MICROSAT Uncertain Significance
258877 rs1555475414 GRCh37: 16:51175643-51175644
GRCh38: 16:51141732-51141733
32 SALL1 NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser) SNV Uncertain Significance
499155 rs140384285 GRCh37: 16:51173855-51173855
GRCh38: 16:51139944-51139944
33 SALL1 NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) MICROSAT Uncertain Significance
319615 rs113614842 GRCh37: 16:51175655-51175656
GRCh38: 16:51141744-51141745
34 SALL1 NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) SNV Uncertain Significance
771794 rs761053549 GRCh37: 16:51175430-51175430
GRCh38: 16:51141519-51141519
35 SALL1 NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) SNV Uncertain Significance
829915 rs776104367 GRCh37: 16:51171162-51171162
GRCh38: 16:51137251-51137251
36 SALL1 NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) SNV Uncertain Significance
829987 rs1597229404 GRCh37: 16:51174083-51174083
GRCh38: 16:51140172-51140172
37 SALL1 NM_002968.3(SALL1):c.43G>A (p.Asp15Asn) SNV Uncertain Significance
319622 rs886052085 GRCh37: 16:51185110-51185110
GRCh38: 16:51151199-51151199
38 SALL1 NM_002968.3(SALL1):c.*563del DEL Uncertain Significance
319587 rs886052078 GRCh37: 16:51170460-51170460
GRCh38: 16:51136549-51136549
39 SALL1 NM_002968.3(SALL1):c.*920CTT[2] MICROSAT Uncertain Significance
319579 rs527584319 GRCh37: 16:51170095-51170097
GRCh38: 16:51136184-51136186
40 SALL1 NM_002968.3(SALL1):c.*1033dup DUP Uncertain Significance
319576 rs551604859 GRCh37: 16:51169989-51169990
GRCh38: 16:51136078-51136079
41 SALL1 NM_002968.3(SALL1):c.130G>A (p.Val44Ile) SNV Uncertain Significance
224342 rs373744120 GRCh37: 16:51176003-51176003
GRCh38: 16:51142092-51142092
42 SALL1 NM_002968.3(SALL1):c.*705_*706del DEL Uncertain Significance
319583 rs886052076 GRCh37: 16:51170317-51170318
GRCh38: 16:51136406-51136407
43 SALL1 NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val) SNV Uncertain Significance
932004 rs1962322854 GRCh37: 16:51171211-51171211
GRCh38: 16:51137300-51137300
44 SALL1 NM_002968.3(SALL1):c.1514A>G (p.His505Arg) SNV Uncertain Significance
693986 rs776094507 GRCh37: 16:51174619-51174619
GRCh38: 16:51140708-51140708
45 SALL1 NM_002968.3(SALL1):c.1759C>A (p.Pro587Thr) SNV Uncertain Significance
1177412 GRCh37: 16:51174374-51174374
GRCh38: 16:51140463-51140463
46 SALL1 NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys) SNV Uncertain Significance
973876 rs1962320101 GRCh37: 16:51171151-51171151
GRCh38: 16:51137240-51137240
47 SALL1 NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) SNV Uncertain Significance
982425 rs376879952 GRCh37: 16:51171216-51171216
GRCh38: 16:51137305-51137305
48 SALL1 NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg) SNV Uncertain Significance
1679300 GRCh37: 16:51174358-51174358
GRCh38: 16:51140447-51140447
49 SALL1 NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn) SNV Uncertain Significance
1698895 GRCh37: 16:51174355-51174355
GRCh38: 16:51140444-51140444
50 SALL1 NM_002968.3(SALL1):c.721A>G (p.Ile241Val) SNV Uncertain Significance
1684274 GRCh37: 16:51175412-51175412
GRCh38: 16:51141501-51141501

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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