MCID: ACH042
MIFTS: 45

Achondrogenesis, Type Ib

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

Aliases & Classifications for Achondrogenesis, Type Ib

MalaCards integrated aliases for Achondrogenesis, Type Ib:

Name: Achondrogenesis, Type Ib 57 29 55 6 40 73
Achondrogenesis Type Ib 12 75 37 15
Achondrogenesis Type 1b 76 24 53 59
Acg1b 57 24 53 75
Achondrogenesis Fraccaro Type 12 53 75
Fraccaro Achondrogenesis 53 75
Achondrogenesis Ib 57 13
Achondrogenesis, Parenti-Fraccaro Type 59
Achondrogenesis, Fraccaro Type 57
Achondrogenesis 1b 75
Acg-Ib 75

Characteristics:

Orphanet epidemiological data:

59
achondrogenesis type 1b
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
achondrogenesis, type ib:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance For pathogenic variants in slc26a2, penetrance is complete...

Classifications:



Summaries for Achondrogenesis, Type Ib

NIH Rare Diseases : 53 Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.

MalaCards based summary : Achondrogenesis, Type Ib, also known as achondrogenesis type ib, is related to diastrophic dysplasia and achondrogenesis, type ii. An important gene associated with Achondrogenesis, Type Ib is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are ECM proteoglycans and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include bone, testes and skin, and related phenotypes are macrocephaly and long philtrum

Disease Ontology : 12 An achondrogenesis that has material basis in mutation in the SLC26A2 gene which results in umbilical or inguinal hernia and a prominent rounded abdomen.

OMIM : 57 The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. (600972)

UniProtKB/Swiss-Prot : 75 Achondrogenesis 1B: A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease.

Wikipedia : 76 Achondrogenesis, type 1B is a severe autosomal recessive skeletal disorder, invariably fatal in the... more...

GeneReviews: NBK1516

Related Diseases for Achondrogenesis, Type Ib

Graphical network of the top 20 diseases related to Achondrogenesis, Type Ib:



Diseases related to Achondrogenesis, Type Ib

Symptoms & Phenotypes for Achondrogenesis, Type Ib

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
respiratory insufficiency

Chest External Features:
narrow chest

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Pelvis:
small iliac bones
unossified ischium and pubis

Skeletal Limbs:
severe micromelia
marked shortness, broad tubular bone
metaphyseal spurring

Chest Ribs Sternum Clavicles And Scapulae:
thin short ribs
occasional rib fractures

Prenatal Manifestations Delivery:
breech presentation at birth
often stillborn

Abdomen External Features:
umbilical hernia
distended abdomen
inguinal herniae

Head And Neck Head:
flat face

Skeletal Spine:
absent or minimally ossified vertebral bodies

Growth Other:
fetal hydrops

Growth Height:
short-limbed dwarfism identifiable at birth

Skeletal Skull:
slightly less ossified than expected for gestational age

Laboratory Abnormalities:
no cartilage staining with toluidine blue
impaired synthesis of fibroblast sulfated proteoglycans


Clinical features from OMIM:

600972

Human phenotypes related to Achondrogenesis, Type Ib:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
5 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
6 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
7 cystic hygroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000476
8 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
9 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
10 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
11 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
12 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
13 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
14 hydrops fetalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001789
15 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
16 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
17 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
18 abnormal enchondral ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0003336
19 disproportionate short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003498
20 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
21 lethal skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005716
22 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
23 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
24 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
25 femoral hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100541
26 malformation of the heart and great vessels 59 Occasional (29-5%)
27 inguinal hernia 32 HP:0000023
28 malar flattening 32 HP:0000272
29 short ribs 32 HP:0000773
30 hypoplastic ilia 32 HP:0000946
31 edema 32 HP:0000969
32 breech presentation 32 HP:0001623
33 respiratory insufficiency 32 HP:0002093
34 abdominal distention 32 HP:0003270
35 absent or minimally ossified vertebral bodies 32 HP:0004599
36 neonatal short-limb short stature 32 HP:0008921
37 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

MGI Mouse Phenotypes related to Achondrogenesis, Type Ib:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 SLC26A2 BGN DCN FLNB
2 growth/size/body region MP:0005378 9.43 BGN DCN FLNB SLC26A2 SLC26A3 SLC26A5
3 skeleton MP:0005390 9.02 BGN DCN FLNB SLC26A2 SLC26A4

Drugs & Therapeutics for Achondrogenesis, Type Ib

Search Clinical Trials , NIH Clinical Center for Achondrogenesis, Type Ib

Genetic Tests for Achondrogenesis, Type Ib

Genetic tests related to Achondrogenesis, Type Ib:

# Genetic test Affiliating Genes
1 Achondrogenesis, Type Ib 29 SLC26A2

Anatomical Context for Achondrogenesis, Type Ib

MalaCards organs/tissues related to Achondrogenesis, Type Ib:

41
Bone, Testes, Skin, Lung, Heart

Publications for Achondrogenesis, Type Ib

Articles related to Achondrogenesis, Type Ib:

# Title Authors Year
1
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. ( 11570921 )
2001
2
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
3
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. ( 8160740 )
1994
4
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. ( 7977372 )
1994

Variations for Achondrogenesis, Type Ib

UniProtKB/Swiss-Prot genetic disease variations for Achondrogenesis, Type Ib:

75
# Symbol AA change Variation ID SNP ID
1 SLC26A2 p.Asn425Asp VAR_007437 rs104893920
2 SLC26A2 p.Gly678Val VAR_007438 rs104893916

ClinVar genetic disease variations for Achondrogenesis, Type Ib:

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh38 Chromosome 5, 149981317: 149981317
2 SLC26A2 NM_000112.3(SLC26A2): c.1724delA (p.Lys575Serfs) deletion Pathogenic rs386833498 GRCh37 Chromosome 5, 149360880: 149360880
3 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
4 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Likely pathogenic rs786200881 GRCh38 Chromosome 5, 149978043: 149978043
5 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
6 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh38 Chromosome 5, 149980428: 149980428
7 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
8 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
9 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh37 Chromosome 5, 149360429: 149360429
10 SLC26A2 NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp) single nucleotide variant Pathogenic rs104893920 GRCh38 Chromosome 5, 149980866: 149980866
11 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
12 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Likely pathogenic rs104893916 GRCh38 Chromosome 5, 149981626: 149981626
13 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
14 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh38 Chromosome 5, 149981550: 149981550
15 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
16 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh38 Chromosome 5, 149980987: 149980987
17 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
18 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh38 Chromosome 5, 149981569: 149981569
19 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
20 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh38 Chromosome 5, 149980613: 149980615
21 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
22 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
23 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh37 Chromosome 5, 149357444: 149357444
24 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh38 Chromosome 5, 149977881: 149977881
25 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh37 Chromosome 5, 149357400: 149357400
26 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh38 Chromosome 5, 149977837: 149977837
27 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh37 Chromosome 5, 149357403: 149357403
28 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh38 Chromosome 5, 149977840: 149977840
29 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh38 Chromosome 5, 149977859: 149977859
30 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh37 Chromosome 5, 149357422: 149357422
31 SLC26A2 NM_000112.3(SLC26A2): c.239_243dupGCAGT (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh38 Chromosome 5, 149977891: 149977895
32 SLC26A2 NM_000112.3(SLC26A2): c.239_243dupGCAGT (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh37 Chromosome 5, 149357454: 149357458
33 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs1057517527 GRCh37 Chromosome 5, 149357700: 149357701
34 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs1057517527 GRCh38 Chromosome 5, 149978137: 149978138
35 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh38 Chromosome 5, 149978193: 149978193
36 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh37 Chromosome 5, 149357756: 149357756
37 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh38 Chromosome 5, 149978353: 149978353
38 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh37 Chromosome 5, 149357916: 149357916
39 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh37 Chromosome 5, 149359892: 149359895
40 SLC26A2 NM_000112.3(SLC26A2): c.736_739delGTCT (p.Val246Thrfs) deletion Likely pathogenic rs1057517524 GRCh38 Chromosome 5, 149980329: 149980332
41 SLC26A2 NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter) single nucleotide variant Likely pathogenic rs1057517514 GRCh38 Chromosome 5, 149980339: 149980339
42 SLC26A2 NM_000112.3(SLC26A2): c.746C> G (p.Ser249Ter) single nucleotide variant Likely pathogenic rs1057517514 GRCh37 Chromosome 5, 149359902: 149359902
43 SLC26A2 NM_000112.3(SLC26A2): c.918delC (p.Thr307Profs) deletion Likely pathogenic rs1057517526 GRCh38 Chromosome 5, 149980511: 149980511
44 SLC26A2 NM_000112.3(SLC26A2): c.918delC (p.Thr307Profs) deletion Likely pathogenic rs1057517526 GRCh37 Chromosome 5, 149360074: 149360074
45 SLC26A2 NM_000112.3(SLC26A2): c.922delA (p.Ser308Alafs) deletion Likely pathogenic rs1057517495 GRCh37 Chromosome 5, 149360078: 149360078
46 SLC26A2 NM_000112.3(SLC26A2): c.922delA (p.Ser308Alafs) deletion Likely pathogenic rs1057517495 GRCh38 Chromosome 5, 149980515: 149980515
47 SLC26A2 NM_000112.3(SLC26A2): c.1060G> T (p.Glu354Ter) single nucleotide variant Likely pathogenic rs1057517532 GRCh37 Chromosome 5, 149360216: 149360216
48 SLC26A2 NM_000112.3(SLC26A2): c.1060G> T (p.Glu354Ter) single nucleotide variant Likely pathogenic rs1057517532 GRCh38 Chromosome 5, 149980653: 149980653
49 SLC26A2 NM_000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs) duplication Likely pathogenic rs1057517471 GRCh38 Chromosome 5, 149980904: 149980904
50 SLC26A2 NM_000112.3(SLC26A2): c.1311dupT (p.Ala438Cysfs) duplication Likely pathogenic rs1057517471 GRCh37 Chromosome 5, 149360467: 149360467

Expression for Achondrogenesis, Type Ib

Search GEO for disease gene expression data for Achondrogenesis, Type Ib.

Pathways for Achondrogenesis, Type Ib

Pathways related to Achondrogenesis, Type Ib according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.71 BGN DCN
2 10.18 BGN DCN

GO Terms for Achondrogenesis, Type Ib

Cellular components related to Achondrogenesis, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.16 BGN DCN
2 brush border membrane GO:0031526 8.96 SLC26A3 SLC26A4
3 apical plasma membrane GO:0016324 8.8 SLC26A2 SLC26A3 SLC26A4

Biological processes related to Achondrogenesis, Type Ib according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.83 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 regulation of membrane potential GO:0042391 9.71 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 chloride transmembrane transport GO:1902476 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 bicarbonate transport GO:0015701 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
5 anion transmembrane transport GO:0098656 9.61 SLC26A3 SLC26A4 SLC26A5
6 skeletal muscle tissue development GO:0007519 9.57 DCN FLNB
7 negative regulation of JAK-STAT cascade GO:0046426 9.56 BGN DCN
8 regulation of intracellular pH GO:0051453 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
9 glycosaminoglycan metabolic process GO:0030203 9.55 BGN DCN
10 chondroitin sulfate biosynthetic process GO:0030206 9.54 BGN DCN
11 chondroitin sulfate catabolic process GO:0030207 9.51 BGN DCN
12 dermatan sulfate biosynthetic process GO:0030208 9.49 BGN DCN
13 positive regulation of mitochondrial depolarization GO:0051901 9.48 CCK DCN
14 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan GO:0019800 9.46 BGN DCN
15 sulfate transport GO:0008272 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
16 sulfate transmembrane transport GO:1902358 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
17 oxalate transport GO:0019532 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Molecular functions related to Achondrogenesis, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 anion:anion antiporter activity GO:0015301 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 protein kinase inhibitor activity GO:0004860 9.48 BGN DCN
5 extracellular matrix binding GO:0050840 9.46 BGN DCN
6 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
7 glycosaminoglycan binding GO:0005539 9.43 BGN DCN
8 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A3 SLC26A4
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
10 oxalate transmembrane transporter activity GO:0019531 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Sources for Achondrogenesis, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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