PRPTS
MCID: PRP093
MIFTS: 35

Pierpont Syndrome (PRPTS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pierpont Syndrome

MalaCards integrated aliases for Pierpont Syndrome:

Name: Pierpont Syndrome 57 58 72 36 29 6
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 57 72 70
Prpts 57 72
Plantar Lipomatosis-Facial Dysmorphism-Developmental Delay Syndrome 58
Plantar Lipomatosis-Unusual Facies-Developmental Delay Syndrome 58
Syndrome, Pierpont 39

Characteristics:

OMIM®:

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

Miscellaneous:
mutations occur de novo
fat pads become less prominent with time


HPO:

31
pierpont syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Pierpont Syndrome

OMIM® : 57 Pierpont syndrome is a multiple congenital anomaly syndrome associated with learning disability. Key features include distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies (summary by Burkitt Wright et al., 2011). (602342) (Updated 05-Apr-2021)

MalaCards based summary : Pierpont Syndrome, also known as plantar lipomatosis, unusual facies, and developmental delay, is related to lipomatosis and cryptorchidism, unilateral or bilateral. An important gene associated with Pierpont Syndrome is TBL1XR1 (TBL1X Receptor 1). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and short neck

KEGG : 36 Pierpont syndrome is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. Mutations in TBL1XR1 has been described recently in patients with this disease.

UniProtKB/Swiss-Prot : 72 Pierpont syndrome: An autosomal dominant syndrome characterized by multiple congenital anomalies, global developmental delay, learning disability, palmar and plantar fat pads, and distinctive facial characteristics, especially when smiling.

Related Diseases for Pierpont Syndrome

Diseases related to Pierpont Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 lipomatosis 10.2
2 cryptorchidism, unilateral or bilateral 10.1
3 hypotonia 10.1
4 cleft palate, isolated 9.9
5 chiari malformation type ii 9.9
6 papilloma of choroid plexus 9.9
7 alacrima, achalasia, and mental retardation syndrome 9.9
8 scoliosis 9.9
9 microphthalmia 9.9
10 microcephaly 9.9
11 hydrocephalus 9.9
12 hydronephrosis 9.9
13 squamous cell papilloma 9.9
14 constipation 9.9
15 papilloma 9.9
16 atypical choroid plexus papilloma 9.9
17 learning disability 9.9
18 pathologic nystagmus 9.9
19 chiari malformation 9.9
20 dysphagia 9.9

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



Diseases related to Pierpont Syndrome

Symptoms & Phenotypes for Pierpont Syndrome

Human phenotypes related to Pierpont Syndrome:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 very rare (1%) Very frequent (99-80%) HP:0001249
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 widely spaced teeth 58 31 very rare (1%) Very frequent (99-80%) HP:0000687
4 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
5 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
6 deep palmar crease 58 31 very rare (1%) Very frequent (99-80%) HP:0006191
7 abnormal subcutaneous fat tissue distribution 58 31 hallmark (90%) Very frequent (99-80%) HP:0007552
8 narrow palpebral fissure 58 31 very rare (1%) Very frequent (99-80%) HP:0045025
9 wide nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0012811
10 hypotonia 31 very rare (1%) HP:0001252
11 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
12 hearing impairment 58 31 very rare (1%) Frequent (79-30%) HP:0000365
13 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
14 smooth philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000319
15 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
16 strabismus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000486
17 wide intermamillary distance 58 31 very rare (1%) Frequent (79-30%) HP:0006610
18 short toe 58 31 very rare (1%) Frequent (79-30%) HP:0001831
19 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
20 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
21 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
22 short finger 58 31 very rare (1%) Frequent (79-30%) HP:0009381
23 broad philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000289
24 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
25 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
26 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
27 uplifted earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0009909
28 prominent fingertip pads 58 31 very rare (1%) Frequent (79-30%) HP:0001212
29 long upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0011341
30 abnormality of the plantar skin of foot 58 31 frequent (33%) Frequent (79-30%) HP:0100872
31 excessive wrinkling of palmar skin 58 31 frequent (33%) Frequent (79-30%) HP:0007605
32 congenital microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0011451
33 atrophy/degeneration affecting the central nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0007367
34 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
35 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
36 cryptorchidism 58 31 very rare (1%) Occasional (29-5%) HP:0000028
37 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
38 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
39 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
40 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
41 malar flattening 58 31 very rare (1%) Occasional (29-5%) HP:0000272
42 arnold-chiari malformation 58 31 very rare (1%) Occasional (29-5%) HP:0002308
43 high anterior hairline 58 31 very rare (1%) Occasional (29-5%) HP:0009890
44 severe global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011344
45 microcornea 58 31 very rare (1%) Occasional (29-5%) HP:0000482
46 abnormal cortical gyration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002536
47 pendular nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0012043
48 failure to thrive 31 occasional (7.5%) HP:0001508
49 hypertonia 31 occasional (7.5%) HP:0001276
50 micropenis 31 occasional (7.5%) HP:0000054

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Head And Neck Teeth:
widely spaced teeth

Head And Neck Face:
full cheeks
high forehead
high anterior hairline
broad face
midface hypoplasia
more
Head And Neck Ears:
posteriorly rotated ears
fleshy ears

Chest Breasts:
widely spaced nipples
hypoplastic areolae

Skeletal Feet:
short, broad feet
deep grooves on soles, with pillowing in between
fetal toe pads

Neurologic Peripheral Nervous System:
hypotonia, truncal
hypertonia (in some patients)

Growth Other:
failure to thrive (in some patients)

Growth Weight:
less than fiftieth centile

Genitourinary External Genitalia Male:
small penis (in some patients)

Skeletal Limbs:
fat pads anterior to calcanei

Neurologic Central Nervous System:
global developmental delay
seizures (in some patients)
speech delay

Head And Neck Head:
microcephaly
brachycephaly

Skin Nails Hair Hair:
high anterior hairline

Skeletal Hands:
short, broad hands
deep creases on palms, with pillowing in between
fetal finger pads

Head And Neck Eyes:
deep-set eyes
strabismus (in some patients)
short and narrow palpebral fissures
hypertelorism or telecanthus
microphthalmia (in 1 patient)
more
Head And Neck Mouth:
everted lower lip
long upper lip with thin vermilion border
central palatal ridge (in some patients)

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Growth Height:
less than tenth centile

Head And Neck Nose:
short, broad nose

Skeletal Spine:
scoliosis, progressive (in some patients)

Skin Nails Hair Skin:
dermal sinus (in 1 patient)

Clinical features from OMIM®:

602342 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pierpont Syndrome

Search Clinical Trials , NIH Clinical Center for Pierpont Syndrome

Genetic Tests for Pierpont Syndrome

Genetic tests related to Pierpont Syndrome:

# Genetic test Affiliating Genes
1 Pierpont Syndrome 29 TBL1XR1

Anatomical Context for Pierpont Syndrome

MalaCards organs/tissues related to Pierpont Syndrome:

40
Eye, Brain

Publications for Pierpont Syndrome

Articles related to Pierpont Syndrome:

(show all 19)
# Title Authors PMID Year
1
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. 61 57 6
30365874 2018
2
Pierpont syndrome: report of a new patient. 61 6 57
28562391 2017
3
A specific mutation in TBL1XR1 causes Pierpont syndrome. 6 57 61
26769062 2016
4
Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome. 57 6
9450851 1998
5
Pierpont syndrome: a collaborative study. 57 61
21834056 2011
6
Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome. 57 61
16007632 2005
7
De novo genic mutations among a Chinese autism spectrum disorder cohort. 6
27824329 2016
8
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. 6
26740553 2016
9
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 6
23160955 2012
10
Bilateral congenital fatty heel pads. 57
7640861 1995
11
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum. 61
33527360 2021
12
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. 61
28687524 2017
13
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome. 61
28574232 2017
14
Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. 61
27549440 2017
15
Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report. 61
27520388 2016
16
Erratum: A specific mutation in TBL1XR1 causes Pierpont syndrome. 61
27221108 2016
17
A randomized preference trial to inform personalization of a parent training program implemented in community mental health clinics. 61
27012255 2016
18
Choroid plexus papilloma and Pierpont syndrome. 61
23176139 2013
19
Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion. 61
18478595 2008

Variations for Pierpont Syndrome

ClinVar genetic disease variations for Pierpont Syndrome:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBL1XR1 NM_024665.6(TBL1XR1):c.1337A>G (p.Tyr446Cys) SNV Pathogenic 225874 rs878854402 GRCh37: 3:176750838-176750838
GRCh38: 3:177033050-177033050
2 TBL1XR1 NM_024665.6(TBL1XR1):c.1336T>C (p.Tyr446His) SNV Pathogenic 627550 rs1553808301 GRCh37: 3:176750839-176750839
GRCh38: 3:177033051-177033051
3 TBL1XR1 NM_024665.7(TBL1XR1):c.626_629del (p.Leu209fs) Deletion Pathogenic 857363 GRCh37: 3:176767858-176767861
GRCh38: 3:177050070-177050073
4 TBL1XR1 NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) SNV Pathogenic 545441 rs1553810255 GRCh37: 3:176756174-176756174
GRCh38: 3:177038386-177038386
5 TBL1XR1 NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs) Microsatellite Likely pathogenic 983039 GRCh37: 3:176756127-176756130
GRCh38: 3:177038339-177038342
6 TBL1XR1 NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp) SNV Likely pathogenic 917885 GRCh37: 3:176765330-176765330
GRCh38: 3:177047542-177047542
7 TBL1XR1 NM_024665.6(TBL1XR1):c.689C>T (p.Ser230Phe) SNV Likely pathogenic 521029 rs1553815393 GRCh37: 3:176767798-176767798
GRCh38: 3:177050010-177050010
8 TBL1XR1 NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys) SNV Likely pathogenic 802020 rs1576982808 GRCh37: 3:176752052-176752052
GRCh38: 3:177034264-177034264
9 TBL1XR1 NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe) SNV Likely pathogenic 802021 rs1576993654 GRCh37: 3:176755908-176755908
GRCh38: 3:177038120-177038120
10 TBL1XR1 NM_024665.7(TBL1XR1):c.703-2A>G SNV Likely pathogenic 802022 rs1577018466 GRCh37: 3:176765339-176765339
GRCh38: 3:177047551-177047551
11 TBL1XR1 NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) SNV Likely pathogenic 802023 rs1577029680 GRCh37: 3:176769493-176769493
GRCh38: 3:177051705-177051705
12 TBL1XR1 NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu) SNV Likely pathogenic 842022 GRCh37: 3:176768312-176768312
GRCh38: 3:177050524-177050524
13 TBL1XR1 NM_024665.6(TBL1XR1):c.1048-1G>A SNV Likely pathogenic 647180 rs1576993734 GRCh37: 3:176755961-176755961
GRCh38: 3:177038173-177038173
14 TBL1XR1 NM_024665.6(TBL1XR1):c.1387G>A (p.Asp463Asn) SNV Likely pathogenic 569007 rs1560098548 GRCh37: 3:176750788-176750788
GRCh38: 3:177033000-177033000
15 TBL1XR1 NM_024665.6(TBL1XR1):c.323C>T (p.Ala108Val) SNV Uncertain significance 571087 rs1056676313 GRCh37: 3:176769396-176769396
GRCh38: 3:177051608-177051608
16 TBL1XR1 NM_024665.6(TBL1XR1):c.1126T>C (p.Trp376Arg) SNV Uncertain significance 422143 rs1064795585 GRCh37: 3:176752110-176752110
GRCh38: 3:177034322-177034322
17 TBL1XR1 NM_024665.6(TBL1XR1):c.341C>T (p.Ala114Val) SNV Uncertain significance 582829 rs747826896 GRCh37: 3:176769378-176769378
GRCh38: 3:177051590-177051590
18 TBL1XR1 NM_024665.6(TBL1XR1):c.714A>G (p.Thr238=) SNV Uncertain significance 468539 rs750132632 GRCh37: 3:176765326-176765326
GRCh38: 3:177047538-177047538
19 TBL1XR1 NM_024665.7(TBL1XR1):c.346G>T (p.Ala116Ser) SNV Uncertain significance 468536 rs372813783 GRCh37: 3:176769373-176769373
GRCh38: 3:177051585-177051585
20 TBL1XR1 NM_024665.6(TBL1XR1):c.1047+3A>G SNV Uncertain significance 649049 rs1320754324 GRCh37: 3:176756098-176756098
GRCh38: 3:177038310-177038310
21 TBL1XR1 NM_024665.6(TBL1XR1):c.1246G>A (p.Ala416Thr) SNV Uncertain significance 650025 rs1576982573 GRCh37: 3:176751990-176751990
GRCh38: 3:177034202-177034202
22 TBL1XR1 NM_024665.6(TBL1XR1):c.17A>G (p.Asp6Gly) SNV Uncertain significance 652238 rs1577062828 GRCh37: 3:176782749-176782749
GRCh38: 3:177064961-177064961
23 TBL1XR1 NM_024665.6(TBL1XR1):c.1217C>G (p.Thr406Ser) SNV Uncertain significance 656204 rs1020225336 GRCh37: 3:176752019-176752019
GRCh38: 3:177034231-177034231
24 TBL1XR1 NM_024665.6(TBL1XR1):c.542G>A (p.Ser181Asn) SNV Uncertain significance 658205 rs1367919718 GRCh37: 3:176768284-176768284
GRCh38: 3:177050496-177050496
25 TBL1XR1 and overlap with 1 gene(s) NC_000003.11:g.(?_176743266)_(176782785_?)dup Duplication Uncertain significance 658438 GRCh37: 3:176743266-176782785
GRCh38: 3:177025478-177064997
26 TBL1XR1 NM_024665.7(TBL1XR1):c.118_119insGTCAGTCCATTT (p.Asn40delinsSerGlnSerIleTyr) Insertion Uncertain significance 844342 GRCh37: 3:176771646-176771647
GRCh38: 3:177053858-177053859
27 TBL1XR1 NM_024665.7(TBL1XR1):c.353C>A (p.Ala118Asp) SNV Uncertain significance 850719 GRCh37: 3:176769366-176769366
GRCh38: 3:177051578-177051578
28 TBL1XR1 NM_024665.6(TBL1XR1):c.1235A>G (p.Asn412Ser) SNV Uncertain significance 536409 rs1553808729 GRCh37: 3:176752001-176752001
GRCh38: 3:177034213-177034213
29 TBL1XR1 NM_024665.7(TBL1XR1):c.1172A>G (p.Asn391Ser) SNV Uncertain significance 976267 GRCh37: 3:176752064-176752064
GRCh38: 3:177034276-177034276
30 TBL1XR1 NM_024665.7(TBL1XR1):c.197T>G (p.Ile66Ser) SNV Uncertain significance 936037 GRCh37: 3:176771568-176771568
GRCh38: 3:177053780-177053780
31 TBL1XR1 NM_024665.7(TBL1XR1):c.1047G>A (p.Thr349=) SNV Uncertain significance 861216 GRCh37: 3:176756101-176756101
GRCh38: 3:177038313-177038313
32 TBL1XR1 NM_024665.7(TBL1XR1):c.700A>G (p.Asn234Asp) SNV Uncertain significance 861996 GRCh37: 3:176767787-176767787
GRCh38: 3:177049999-177049999
33 TBL1XR1 NM_024665.7(TBL1XR1):c.232A>G (p.Ile78Val) SNV Uncertain significance 863350 GRCh37: 3:176769487-176769487
GRCh38: 3:177051699-177051699
34 TBL1XR1 NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly) SNV Uncertain significance 996874 GRCh37: 3:176782726-176782726
GRCh38: 3:177064938-177064938
35 TBL1XR1 NM_024665.7(TBL1XR1):c.1228A>C (p.Asn410His) SNV Uncertain significance 1007385 GRCh37: 3:176752008-176752008
GRCh38: 3:177034220-177034220
36 TBL1XR1 NM_024665.7(TBL1XR1):c.1220A>G (p.Asn407Ser) SNV Uncertain significance 1007986 GRCh37: 3:176752016-176752016
GRCh38: 3:177034228-177034228
37 TBL1XR1 NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) SNV Uncertain significance 626177 rs375411293 GRCh37: 3:176769376-176769376
GRCh38: 3:177051588-177051588
38 TBL1XR1 NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) SNV Uncertain significance 626177 rs375411293 GRCh37: 3:176769376-176769376
GRCh38: 3:177051588-177051588
39 TBL1XR1 NM_024665.6(TBL1XR1):c.130G>A (p.Val44Ile) SNV Uncertain significance 521844 rs1553817638 GRCh37: 3:176771635-176771635
GRCh38: 3:177053847-177053847
40 TBL1XR1 NM_024665.7(TBL1XR1):c.28T>C (p.Phe10Leu) SNV Uncertain significance 940428 GRCh37: 3:176782738-176782738
GRCh38: 3:177064950-177064950
41 TBL1XR1 NM_024665.7(TBL1XR1):c.447G>T (p.Met149Ile) SNV Uncertain significance 949384 GRCh37: 3:176768379-176768379
GRCh38: 3:177050591-177050591
42 TBL1XR1 NM_024665.7(TBL1XR1):c.353C>T (p.Ala118Val) SNV Uncertain significance 964722 GRCh37: 3:176769366-176769366
GRCh38: 3:177051578-177051578
43 TBL1XR1 NC_000003.11:g.(?_176743266)_(176782785_?)dup Duplication Uncertain significance 1016066 GRCh37: 3:176743266-176782785
GRCh38:
44 TBL1XR1 NM_024665.7(TBL1XR1):c.98A>G (p.His33Arg) SNV Uncertain significance 1017393 GRCh37: 3:176771667-176771667
GRCh38: 3:177053879-177053879
45 TBL1XR1 NM_024665.7(TBL1XR1):c.205-7A>G SNV Uncertain significance 1018524 GRCh37: 3:176769521-176769521
GRCh38: 3:177051733-177051733
46 TBL1XR1 NM_024665.7(TBL1XR1):c.521T>A (p.Ile174Asn) SNV Uncertain significance 1020695 GRCh37: 3:176768305-176768305
GRCh38: 3:177050517-177050517
47 TBL1XR1 NM_024665.7(TBL1XR1):c.1342G>A (p.Val448Ile) SNV Uncertain significance 1020842 GRCh37: 3:176750833-176750833
GRCh38: 3:177033045-177033045
48 TBL1XR1 NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile) SNV Uncertain significance 946858 GRCh37: 3:176768382-176768382
GRCh38: 3:177050594-177050594
49 TBL1XR1 NM_024665.7(TBL1XR1):c.443T>C (p.Met148Thr) SNV Uncertain significance 955489 GRCh37: 3:176768383-176768383
GRCh38: 3:177050595-177050595
50 TBL1XR1 NM_024665.7(TBL1XR1):c.333_350dup (p.Ala113_Ala118dup) Duplication Uncertain significance 959285 GRCh37: 3:176769368-176769369
GRCh38: 3:177051580-177051581

UniProtKB/Swiss-Prot genetic disease variations for Pierpont Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 TBL1XR1 p.Tyr446Cys VAR_076759 rs878854402

Expression for Pierpont Syndrome

Search GEO for disease gene expression data for Pierpont Syndrome.

Pathways for Pierpont Syndrome

GO Terms for Pierpont Syndrome

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