JBTS32
MCID: JBR043
MIFTS: 46

Joubert Syndrome 32 (JBTS32)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Joubert Syndrome 32

MalaCards integrated aliases for Joubert Syndrome 32:

Name: Joubert Syndrome 32 57 11 73 28 5 14 38
Jbts32 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
four patients from 2 unrelated consanguineous families have been reported (last curated november 2017)


Classifications:



Summaries for Joubert Syndrome 32

UniProtKB/Swiss-Prot: 73 A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive.

MalaCards based summary: Joubert Syndrome 32, also known as jbts32, is related to 46,xy sex reversal 7 and primary ovarian insufficiency 6. An important gene associated with Joubert Syndrome 32 is SUFU (SUFU Negative Regulator Of Hedgehog Signaling), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Signal Transduction. Affiliated tissues include liver, brain and cerebellum, and related phenotypes are nystagmus and polymicrogyria

OMIM®: 57 JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017). For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). (617757) (Updated 08-Dec-2022)

Disease Ontology: 11 A Joubert syndrome that has material basis in homozygous mutation in the SUFU gene on chromosome 10q24.

Related Diseases for Joubert Syndrome 32

Diseases in the Joubert Syndrome 1 family:

Joubert Syndrome 10 Joubert Syndrome 2
Joubert Syndrome 3 Joubert Syndrome 4
Joubert Syndrome 5 Joubert Syndrome 6
Joubert Syndrome 7 Joubert Syndrome 9
Joubert Syndrome 8 Joubert Syndrome 13
Joubert Syndrome 14 Joubert Syndrome 15
Joubert Syndrome 16 Joubert Syndrome 17
Joubert Syndrome 18 Joubert Syndrome 20
Joubert Syndrome 21 Joubert Syndrome 22
Joubert Syndrome 23 Joubert Syndrome 24
Joubert Syndrome 25 Joubert Syndrome 26
Joubert Syndrome 27 Joubert Syndrome 28
Joubert Syndrome 30 Joubert Syndrome 32
Joubert Syndrome 31 Joubert Syndrome 33
Joubert Syndrome 35 Joubert Syndrome 36
Joubert Syndrome 37 Joubert Syndrome 38
Joubert Syndrome 39 Joubert Syndrome 40

Diseases related to Joubert Syndrome 32 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 7 10.2 GLI4 DHH
2 primary ovarian insufficiency 6 10.1 SUFU SHH
3 melanotic medulloblastoma 10.1 SUFU SHH
4 medullomyoblastoma 10.1 SUFU SMO SHH
5 basal cell carcinoma, infundibulocystic 10.0 SUFU PTCH1
6 anterior cranial fossa meningioma 10.0 SUFU PTCH1
7 ovary leiomyosarcoma 10.0 SUFU PTCH1
8 basal cell carcinoma 1 9.9 SMO PTCH2 PTCH1
9 acheiropody 9.9 ZP2 SHH
10 tibia, hypoplasia or aplasia of, with polydactyly 9.9 ZP2 SHH GLI3
11 syndactyly, type iv 9.9 ZP2 SHH GLI3
12 holoprosencephaly, recurrent infections, and monocytosis 9.9 PTCH1 GLI2
13 synpolydactyly 9.9 ZP2 SHH GLI3
14 polydactyly, preaxial ii 9.9 SHH PTCH1
15 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 9.9 SHH GLI3
16 vulva basal cell carcinoma 9.9 SHH PTCH1
17 chromosomal duplication syndrome 9.9 ZP2 SHH GLI3
18 holoprosencephaly 6 9.9 SHH PTCH1
19 pancreas, annular 9.9 SHH IHH
20 pericytoma with t(7;12) 9.7 PTCH1 GLI1
21 laurin-sandrow syndrome 9.7 ZP2 SHH IHH GLI3
22 synostosis 9.7 ZP2 SHH IHH GLI3
23 holoprosencephaly 9 9.7 SHH GLI4 GLI3 GLI2
24 trachea leiomyoma 9.7 SHH GLI1
25 penis carcinoma in situ 9.7 SUFU PTCH1 GLI1
26 bone development disease 9.7 SHH IHH GLI3 EVC2
27 holoprosencephaly 11 9.7 SHH PTCH1 GLI2
28 midline interhemispheric variant of holoprosencephaly 9.7 SHH PTCH1 GLI2
29 septopreoptic holoprosencephaly 9.7 SHH PTCH1 GLI2
30 alobar holoprosencephaly 9.7 SHH PTCH1 GLI2
31 dysostosis 9.7 SHH IHH GLI3 EVC2
32 lobar holoprosencephaly 9.7 SHH PTCH1 GLI2
33 esophageal atresia 9.7 SHH GLI3 GLI2
34 micronodular basal cell carcinoma 9.7 SHH PTCH1 GLI2
35 semilobar holoprosencephaly 9.7 SHH PTCH1 GLI2
36 solitary median maxillary central incisor 9.7 SHH PTCH1 GLI2
37 fibroepithelial basal cell carcinoma 9.7 PTCH2 PTCH1 GLI1
38 basosquamous carcinoma 9.7 PTCH2 PTCH1 GLI1
39 skin tag 9.6 PTCH1 GLI3
40 ameloblastoma 9.6 SMO PTCH1 GLI1
41 large cell medulloblastoma 9.6 SUFU SHH PTCH1 GLI2
42 adult medulloblastoma 9.6 SUFU SHH PTCH1 GLI2
43 microform holoprosencephaly 9.6 SUFU SHH PTCH1 GLI2
44 joubert syndrome 8 9.6 SUFU SHH PTCH1 GLI2
45 holoprosencephaly 7 9.6 SMO PTCH1 GLI4 GLI2 DHH
46 coloboma of macula 9.6 SHH PTCH1 KIF7 GLI3
47 tooth agenesis 9.6 SHH PTCH1 GLI3 EVC2
48 li-fraumeni syndrome 9.6 SUFU SHH PTCH1
49 polydactyly, postaxial, type a1 9.6 PTCH1 GLI3 GLI1
50 holoprosencephaly 3 9.5 SHH PTCH1 GLI3 GLI2

Graphical network of the top 20 diseases related to Joubert Syndrome 32:



Diseases related to Joubert Syndrome 32

Symptoms & Phenotypes for Joubert Syndrome 32

Human phenotypes related to Joubert Syndrome 32:

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Very rare (1%) HP:0000639
2 polymicrogyria 30 Very rare (1%) HP:0002126
3 macrocephaly 30 HP:0000256
4 frontal bossing 30 HP:0002007
5 ataxia 30 HP:0001251
6 dysarthria 30 HP:0001260
7 global developmental delay 30 HP:0001263
8 depressed nasal bridge 30 HP:0005280
9 hypertelorism 30 HP:0000316
10 intellectual disability, mild 30 HP:0001256
11 hypertrophic cardiomyopathy 30 HP:0001639
12 tall stature 30 HP:0000098
13 abnormal cerebellum morphology 30 HP:0001317
14 large for gestational age 30 HP:0001520
15 molar tooth sign on mri 30 HP:0002419
16 oculomotor apraxia 30 HP:0000657
17 generalized hypotonia 30 HP:0001290
18 postaxial polydactyly 30 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
ataxia
dysarthria
intellectual disability, mild
developmental delay
molar tooth sign
more
Head And Neck Nose:
depressed nasal bridge

Growth Height:
tall stature

Skeletal Feet:
postaxial polydactyly

Cardiovascular Heart:
hypertrophic cardiomyopathy (in 1 patient)

Head And Neck Face:
frontal bossing

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
hypertelorism
oculomotor apraxia
nystagmus (in some patients)

Skeletal Hands:
postaxial polydactyly

Growth Other:
macrosomia

Clinical features from OMIM®:

617757 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Joubert Syndrome 32:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.41 DHH EVC2 GLI1 GLI2 GLI3 GPR161
2 homeostasis/metabolism MP:0005376 10.35 CHKA DHH EVC2 GLI2 GLI3 KIF7
3 limbs/digits/tail MP:0005371 10.33 EVC2 GLI1 GLI2 GLI3 GPR161 IHH
4 growth/size/body region MP:0005378 10.29 EVC2 GLI1 GLI2 GLI3 GPR161 IHH
5 digestive/alimentary MP:0005381 10.27 DHH EVC2 GLI1 GLI2 GLI3 GPR161
6 normal MP:0002873 10.24 EVC2 GLI1 GLI2 GLI3 PTCH1 PTCH2
7 no phenotypic analysis MP:0003012 10.23 GLI1 GLI2 GLI3 IHH KIF7 PTCH1
8 embryo MP:0005380 10.22 GLI1 GLI2 GLI3 GPR161 IHH KIF7
9 endocrine/exocrine gland MP:0005379 10.19 DHH EVC2 GLI1 GLI2 GLI3 IHH
10 cellular MP:0005384 10.18 EVC2 GLI1 GLI2 GLI3 GPR161 IHH
11 craniofacial MP:0005382 10.17 EVC2 GLI1 GLI2 GLI3 GPR161 IHH
12 muscle MP:0005369 10.1 GLI2 IHH KIF7 PTCH1 PTCH2 SHH
13 respiratory system MP:0005388 10.07 GLI1 GLI2 GLI3 GPR161 IHH KIF7
14 skeleton MP:0005390 10.03 EVC2 GLI1 GLI2 GLI3 GPR161 IHH
15 reproductive system MP:0005389 10.02 DHH EVC2 GLI1 GLI2 GLI3 KIF7
16 hearing/vestibular/ear MP:0005377 10 GLI2 GLI3 GPR161 PTCH1 SHH SMO
17 vision/eye MP:0005391 9.81 GLI2 GLI3 GPR161 IHH KIF7 PTCH1
18 mortality/aging MP:0010768 9.77 CHKA EVC2 GLI1 GLI2 GLI3 GPR161
19 integument MP:0010771 9.28 EVC2 GLI2 GLI3 GPR161 PTCH1 PTCH2

Drugs & Therapeutics for Joubert Syndrome 32

Search Clinical Trials, NIH Clinical Center for Joubert Syndrome 32

Genetic Tests for Joubert Syndrome 32

Genetic tests related to Joubert Syndrome 32:

# Genetic test Affiliating Genes
1 Joubert Syndrome 32 28 SUFU

Anatomical Context for Joubert Syndrome 32

Organs/tissues related to Joubert Syndrome 32:

MalaCards : Liver, Brain, Cerebellum

Publications for Joubert Syndrome 32

Articles related to Joubert Syndrome 32:

# Title Authors PMID Year
1
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. 57 5
28965847 2017

Variations for Joubert Syndrome 32

ClinVar genetic disease variations for Joubert Syndrome 32:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SUFU NM_016169.4(SUFU):c.527A>G (p.His176Arg) SNV Pathogenic
446157 rs1554852272 GRCh37: 10:104352411-104352411
GRCh38: 10:102592654-102592654
2 SUFU NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr) SNV Pathogenic
446156 rs1554854758 GRCh37: 10:104377106-104377106
GRCh38: 10:102617349-102617349
3 SUFU NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) SNV Uncertain Significance
406392 rs746322193 GRCh37: 10:104269018-104269018
GRCh38: 10:102509261-102509261
4 SUFU NM_016169.4(SUFU):c.1028G>A (p.Arg343His) SNV Uncertain Significance
135285 rs79299301 GRCh37: 10:104375030-104375030
GRCh38: 10:102615273-102615273
5 SUFU NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) SNV Uncertain Significance
135283 rs368178771 GRCh37: 10:104375047-104375047
GRCh38: 10:102615290-102615290
6 SUFU NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) SNV Uncertain Significance
486528 rs368020224 GRCh37: 10:104377121-104377121
GRCh38: 10:102617364-102617364
7 SUFU NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) SNV Uncertain Significance
453960 rs778125780 GRCh37: 10:104389836-104389836
GRCh38: 10:102630079-102630079
8 SUFU NM_016169.4(SUFU):c.325G>A (p.Gly109Arg) SNV Uncertain Significance
638517 rs192025919 GRCh37: 10:104309734-104309734
GRCh38: 10:102549977-102549977
9 SUFU NM_016169.4(SUFU):c.750C>A (p.His250Gln) SNV Uncertain Significance
453977 rs1235137905 GRCh37: 10:104353816-104353816
GRCh38: 10:102594059-102594059
10 SUFU NM_016169.4(SUFU):c.43C>A (p.Pro15Thr) SNV Uncertain Significance
453965 rs761921681 GRCh37: 10:104263952-104263952
GRCh38: 10:102504195-102504195
11 SUFU NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) SNV Uncertain Significance
999529 rs1403040084 GRCh37: 10:104353782-104353782
GRCh38: 10:102594025-102594025
12 SUFU NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) SNV Uncertain Significance
241078 rs773037813 GRCh37: 10:104359294-104359294
GRCh38: 10:102599537-102599537
13 SUFU NM_016169.4(SUFU):c.1365+19T>C SNV Benign
260688 rs12414407 GRCh37: 10:104387019-104387019
GRCh38: 10:102627262-102627262
14 SUFU NM_016169.4(SUFU):c.182+16C>T SNV Benign
260689 rs2274351 GRCh37: 10:104264107-104264107
GRCh38: 10:102504350-102504350
15 SUFU NM_016169.4(SUFU):c.*20T>G SNV Benign
1175161 GRCh37: 10:104389932-104389932
GRCh38: 10:102630175-102630175

UniProtKB/Swiss-Prot genetic disease variations for Joubert Syndrome 32:

73
# Symbol AA change Variation ID SNP ID
1 SUFU p.His176Arg VAR_080421 rs1554852272
2 SUFU p.Ile406Thr VAR_080426 rs1554854758

Expression for Joubert Syndrome 32

Search GEO for disease gene expression data for Joubert Syndrome 32.

Pathways for Joubert Syndrome 32

Pathways related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.22 SUFU SPOP SMO SHH PTCH1 KIF7
2 13.66 TAAR1 SUFU SPOP SMO SHH PTCH2
3
Show member pathways
13.45 TAAR1 SMO SHH PTCH2 PTCH1 IHH
4
Show member pathways
13.42 SUFU SMO PTCH2 PTCH1 IHH GLI1
5
Show member pathways
13.3 TAAR1 SMO SHH PTCH2 PTCH1 IHH
6
Show member pathways
13.17 SUFU SMO PTCH2 PTCH1 IHH GLI1
7
Show member pathways
12.62 SMO PTCH2 PTCH1 GLI3 GLI2 GLI1
8
Show member pathways
12.42 DHH IHH PTCH1 PTCH2 SHH SMO
9
Show member pathways
12.39 DHH EVC2 GLI1 GLI2 GLI3 GPR161
10 12.26 SUFU SHH PTCH2 PTCH1 GLI2 GLI1
11
Show member pathways
12.14 SUFU SMO PTCH1 KIF7 GPR161 GLI3
12 12.03 SUFU SMO KIF7 GPR161 GLI3 GLI2
13
Show member pathways
11.9 PTCH1 IHH GLI3
14 11.73 DHH EVC2 GLI1 GLI2 GLI3 GPR161
16
Show member pathways
11.57 GLI2 GLI3 IHH
17 11.55 SMO SHH GLI3 GLI2 GLI1
18 11.47 GLI1 GLI2 IHH PTCH1 SHH SMO
19
Show member pathways
11.33 GLI1 GLI2 GLI3 GLI4 PTCH1 SMO
20 11.27 GLI1 GLI2 PTCH1 SHH SMO
21 11.24 GLI1 GLI2 SHH
22 11.21 SMO PTCH1 GPR161
23 11.14 GLI1 GLI2 GLI3 PTCH1 SHH SMO
24
Show member pathways
10.78 DHH GLI2 GLI3 IHH PTCH1 PTCH2
25 10.77 SHH PTCH1 GLI1
26
Show member pathways
10.62 SHH GLI3
27 10.51 SHH PTCH1

GO Terms for Joubert Syndrome 32

Cellular components related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 10.03 EVC2 GLI1 GLI2 GLI3 GPR161 KIF7
2 ciliary membrane GO:0060170 9.92 SMO PTCH1 GPR161 EVC2
3 ciliary base GO:0097546 9.86 SUFU GLI3 GLI2 GLI1
4 endocytic vesicle membrane GO:0030666 9.85 SMO PTCH1 GPR161
5 ciliary tip GO:0097542 9.73 SUFU SMO KIF7 GLI3 GLI2 GLI1
6 GLI-SUFU complex GO:1990788 9.17 SUFU GLI3 GLI2 GLI1

Biological processes related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

(show top 50) (show all 80)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 10.36 GLI2 GLI3 IHH PTCH1 SMO
2 regulation of gene expression GO:0010468 10.34 SMO SHH IHH GLI3 DHH
3 lung development GO:0030324 10.29 GLI1 GLI2 GLI3 SHH
4 heart looping GO:0001947 10.26 SUFU SMO SHH IHH
5 osteoblast differentiation GO:0001649 10.26 DHH GLI1 GLI2 GLI3 IHH SMO
6 odontogenesis of dentin-containing tooth GO:0042475 10.25 SMO SHH GLI3 GLI2
7 branching involved in ureteric bud morphogenesis GO:0001658 10.21 SHH PTCH1 GLI3
8 cell fate specification GO:0001708 10.21 DHH IHH SHH SMO
9 positive regulation of protein import into nucleus GO:0042307 10.2 GLI3 SHH SMO
10 neuroblast proliferation GO:0007405 10.2 SMO SHH GLI3
11 hair follicle morphogenesis GO:0031069 10.19 SMO SHH GLI2
12 anterior/posterior pattern specification GO:0009952 10.19 GLI2 GLI3 SHH SMO
13 liver regeneration GO:0097421 10.18 PTCH1 IHH GLI1
14 positive regulation of neuroblast proliferation GO:0002052 10.18 SMO SHH GLI3
15 embryonic digit morphogenesis GO:0042733 10.18 SHH IHH GLI3 GLI2
16 protein autoprocessing GO:0016540 10.17 SHH IHH DHH
17 proximal/distal pattern formation GO:0009954 10.17 GLI3 GLI2 GLI1
18 stem cell proliferation GO:0072089 10.17 SHH PTCH1 GLI3 GLI2
19 positive regulation of epithelial cell proliferation GO:0050679 10.15 SMO SHH IHH GLI2
20 embryonic digestive tract morphogenesis GO:0048557 10.14 SHH IHH GLI3
21 embryonic limb morphogenesis GO:0030326 10.13 SHH PTCH1 GLI3
22 skin development GO:0043588 10.13 SUFU SHH PTCH2
23 prostate gland development GO:0030850 10.12 SHH PTCH1 GLI1
24 self proteolysis GO:0097264 10.11 DHH IHH SHH
25 somite development GO:0061053 10.11 SMO SHH PTCH1 IHH
26 positive regulation of T cell differentiation in thymus GO:0033089 10.1 SHH IHH GLI2
27 positive regulation of alpha-beta T cell differentiation GO:0046638 10.09 SHH IHH GLI3
28 branching morphogenesis of an epithelial tube GO:0048754 10.08 SHH GLI3 GLI2
29 cell population proliferation GO:0008283 10.08 SMO SHH IHH GLI3 GLI2
30 negative regulation of chondrocyte differentiation GO:0032331 10.08 IHH GLI3 GLI2
31 smooth muscle tissue development GO:0048745 10.08 SMO SHH PTCH1 IHH
32 positive regulation of mesenchymal cell proliferation GO:0002053 10.07 IHH SHH SMO
33 developmental growth GO:0048589 10.07 SMO SHH GLI3 GLI2
34 regulation of proteolysis GO:0030162 10.06 SPOP SHH
35 cerebellar cortex morphogenesis GO:0021696 10.06 SMO GLI2 GLI1
36 commissural neuron axon guidance GO:0071679 10.05 SMO PTCH1
37 negative thymic T cell selection GO:0045060 10.05 SHH GLI3
38 thalamus development GO:0021794 10.05 SMO SHH
39 artery development GO:0060840 10.05 GLI3 SHH
40 metanephric collecting duct development GO:0072205 10.05 PTCH1 SHH
41 alpha-beta T cell differentiation GO:0046632 10.05 SHH GLI3
42 epithelial cell proliferation GO:0050673 10.05 GLI2 PTCH1 SHH SMO
43 hindgut morphogenesis GO:0007442 10.05 SHH GLI3 GLI2
44 positive regulation of epidermal cell differentiation GO:0045606 10.04 PTCH2 PTCH1
45 camera-type eye development GO:0043010 10.04 SHH IHH GLI3
46 chondrocyte differentiation GO:0002062 10.04 IHH GLI3 GLI2
47 negative regulation of T cell differentiation in thymus GO:0033085 10.04 IHH SHH
48 spinal cord motor neuron differentiation GO:0021522 10.04 GLI2 GLI3 PTCH1 SHH
49 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901621 10.03 GPR161 SUFU
50 negative regulation of alpha-beta T cell differentiation GO:0046639 10.03 SHH IHH GLI3

Molecular functions related to Joubert Syndrome 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hedgehog family protein binding GO:0097108 9.62 PTCH2 PTCH1
2 hedgehog receptor activity GO:0008158 9.56 PTCH2 PTCH1
3 smoothened binding GO:0005119 9.46 PTCH2 PTCH1
4 cholesterol-protein transferase activity GO:0140853 9.43 SHH IHH DHH
5 patched binding GO:0005113 9.32 SMO SHH PTCH1 IHH DHH

Sources for Joubert Syndrome 32

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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