ACG1A
MCID: ACH033
MIFTS: 45

Achondrogenesis, Type Ia (ACG1A)

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

Aliases & Classifications for Achondrogenesis, Type Ia

MalaCards integrated aliases for Achondrogenesis, Type Ia:

Name: Achondrogenesis, Type Ia 58 30 13 6 41
Achondrogenesis Type Ia 12 76 38 15
Achondrogenesis Type 1a 77 54 60 74
Achondrogenesis Houston-Harris Type 12 54 76
Acg1a 58 54 76
Achondrogenesis, Houston-Harris Type 58 60
Houston-Harris Achondrogenesis 54
Achondrogenesis 1a 76
Acg-Ia 76

Characteristics:

Orphanet epidemiological data:

60
achondrogenesis type 1a
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
infants are stillborn or die shortly after birth


HPO:

33
achondrogenesis, type ia:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Achondrogenesis, Type Ia

OMIM : 58 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. (200600)

MalaCards based summary : Achondrogenesis, Type Ia, also known as achondrogenesis type ia, is related to achondrogenesis and odontochondrodysplasia, and has symptoms including edema An important gene associated with Achondrogenesis, Type Ia is TRIP11 (Thyroid Hormone Receptor Interactor 11), and among its related pathways/superpathways are Degradation of the extracellular matrix and Endochondral Ossification. Affiliated tissues include bone, lung and skin, and related phenotypes are macrocephaly and short neck

Disease Ontology : 12 An achondrogenesis that results in abnormal ossification of the located in vertebral column or located in spine.

UniProtKB/Swiss-Prot : 76 Achondrogenesis 1A: 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.

Wikipedia : 77 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

Related Diseases for Achondrogenesis, Type Ia

Diseases in the Achondrogenesis family:

Achondrogenesis, Type Ia Achondrogenesis, Type Ii
Achondrogenesis, Type Ib

Diseases related to Achondrogenesis, Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis 30.7 COL2A1 SLC26A2 TRIP11
2 odontochondrodysplasia 11.4
3 encephalocele 10.3
4 occipital encephalocele 10.3
5 diastrophic dysplasia 10.1 COL2A1 SLC26A2
6 epiphyseal dysplasia, multiple, 4 10.1 MATN3 SLC26A2
7 epiphyseal dysplasia, multiple, 5 10.1 MATN3 SLC26A2
8 skeletal dysplasias 10.1 COL2A1 MATN3
9 hypotrichosis 8 10.1 COL2A1 MATN3
10 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.1 COL2A1 MATN3
11 spondyloepiphyseal dysplasia congenita 10.1 COL2A1 SLC26A2
12 cartilage disease 10.0 ACAN COL2A1
13 simpson-golabi-behmel syndrome, type 1 10.0 ACAN COL2A1
14 hypochondrogenesis 10.0 ACAN COL2A1
15 bone deterioration disease 10.0 ACAN COL2A1
16 ischemic bone disease 10.0 ACAN COL2A1
17 spinal stenosis 9.9 ACAN COL2A1
18 bone development disease 9.9 COL2A1 MATN3 SLC26A2
19 bone structure disease 9.9 ACAN COL2A1
20 osteochondritis dissecans 9.9 ACAN MATN3
21 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8 ACAN COL2A1 SLC26A2
22 bone inflammation disease 9.8 ACAN COL2A1
23 idiopathic scoliosis 9.8 ACAN MATN1
24 epiphyseal dysplasia, multiple, 1 9.8 ACAN MATN3 SLC26A2
25 pseudoachondroplasia 9.8 ACAN MATN3 SLC26A2
26 achondrogenesis, type ii 9.8 ACAN COL2A1 MATN1
27 osteoarthritis 9.8 ACAN COL2A1 MATN3
28 scoliosis 9.7 ACAN COL2A1 MATN1
29 autosomal dominant disease 9.7 ACAN COL2A1
30 multiple epiphyseal dysplasia 9.6 ACAN COL2A1 MATN3 SLC26A2

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



Diseases related to Achondrogenesis, Type Ia

Symptoms & Phenotypes for Achondrogenesis, Type Ia

Human phenotypes related to Achondrogenesis, Type Ia:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
4 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
5 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
6 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
7 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
8 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
9 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
10 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
11 hydrops fetalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001789
12 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
13 thickened nuchal skin fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0000474
14 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
15 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
16 aplasia/hypoplasia of the lungs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006703
17 abnormal enchondral ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0003336
18 lethal skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005716
19 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
20 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279
21 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
22 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
23 recurrent fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002757
24 femoral hernia 60 33 frequent (33%) Frequent (79-30%) HP:0100541
25 multiple rib fractures 60 33 frequent (33%) Frequent (79-30%) HP:0006640
26 cystic hygroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000476
27 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
28 depressed nasal bridge 33 HP:0005280
29 malformation of the heart and great vessels 60 Occasional (29-5%)
30 disproportionate short-trunk short stature 33 HP:0003521
31 hypoplasia of the radius 33 HP:0002984
32 hypoplastic scapulae 33 HP:0000882
33 short clavicles 33 HP:0000894
34 decreased skull ossification 33 HP:0004331
35 hypoplastic ischia 33 HP:0003175
36 barrel-shaped chest 33 HP:0001552
37 short ribs 33 HP:0000773
38 protuberant abdomen 33 HP:0001538
39 abnormality of the femoral metaphysis 33 HP:0006489
40 broad clavicles 33 HP:0000916
41 beaded ribs 33 HP:0000923
42 unossified vertebral bodies 33 HP:0004606
43 abnormal hand bone ossification 33 HP:0010660
44 abnormal foot bone ossification 33 HP:0010675

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal Limbs:
micromelia
short radius
wedged-shape femur with proximal metaphyseal spike
short broad tibia

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
beaded ribs
short, fractured ribs
short, wide clavicles

Abdomen External Features:
protuberant abdomen

Growth Height:
dwarfism, marked micromelic

Skeletal Skull:
poorly ossified skull

Skeletal Pelvis:
pubic bones ossified
arched ilium
hypoplastic ischium

Skeletal Feet:
unossified feet

Head And Neck Nose:
short nose
anteverted nares
flat nasal bridge

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest External Features:
barrel-shaped chest

Prenatal Manifestations Delivery:
stillborn

Growth Other:
short trunk

Skeletal Spine:
unossified vertebral bodies
cervical and upper thoracic pedicles ossified

Skeletal Hands:
unossified hands

Prenatal Manifestations:
hydrops

Clinical features from OMIM:

200600

UMLS symptoms related to Achondrogenesis, Type Ia:


edema

MGI Mouse Phenotypes related to Achondrogenesis, Type Ia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 COL2A1 MATN3 SLC26A2 TRIP11
2 skeleton MP:0005390 9.02 COL2A1 MATN1 MATN3 SLC26A2 TRIP11

Drugs & Therapeutics for Achondrogenesis, Type Ia

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

Genetic Tests for Achondrogenesis, Type Ia

Genetic tests related to Achondrogenesis, Type Ia:

# Genetic test Affiliating Genes
1 Achondrogenesis, Type Ia 30 TRIP11

Anatomical Context for Achondrogenesis, Type Ia

MalaCards organs/tissues related to Achondrogenesis, Type Ia:

42
Bone, Lung, Skin, Heart

The Foundational Model of Anatomy Ontology organs/tissues related to Achondrogenesis, Type Ia:

20
Vertebral Column Or

Publications for Achondrogenesis, Type Ia

Articles related to Achondrogenesis, Type Ia:

# Title Authors Year
1
New subtype of familial achondrogenesis type IA (Houston-Harris). ( 30951048 )
2019
2
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. ( 30728324 )
2019
3
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. ( 29872333 )
2018
4
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. ( 20089971 )
2010
5
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. ( 17638425 )
2007
6
Achondrogenesis type IA with an occipital encephalocele. ( 9101279 )
1997
7
A case of achondrogenesis type IA with an occipital encephalocele. ( 8897040 )
1996

Variations for Achondrogenesis, Type Ia

ClinVar genetic disease variations for Achondrogenesis, Type Ia:

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIP11 NM_004239.4(TRIP11): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs267607138 GRCh37 Chromosome 14, 92482073: 92482073
2 TRIP11 NM_004239.4(TRIP11): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs267607138 GRCh38 Chromosome 14, 92015729: 92015729
3 TRIP11 NP_004230.2(TRIP11): p.Trp1224Ter protein only Pathogenic
4 TRIP11 NM_004239.4(TRIP11): c.202-2A> G single nucleotide variant Pathogenic rs863223281 GRCh37 Chromosome 14, 92491766: 92491766
5 TRIP11 NM_004239.4(TRIP11): c.202-2A> G single nucleotide variant Pathogenic rs863223281 GRCh38 Chromosome 14, 92025422: 92025422
6 TRIP11 NM_004239.4(TRIP11): c.2102A> G (p.Asn701Ser) single nucleotide variant Uncertain significance rs139539448 GRCh37 Chromosome 14, 92472218: 92472218
7 TRIP11 NM_004239.4(TRIP11): c.2102A> G (p.Asn701Ser) single nucleotide variant Uncertain significance rs139539448 GRCh38 Chromosome 14, 92005874: 92005874
8 TRIP11 NM_004239.4(TRIP11): c.382G> T (p.Ala128Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141553918 GRCh37 Chromosome 14, 92488106: 92488106
9 TRIP11 NM_004239.4(TRIP11): c.382G> T (p.Ala128Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141553918 GRCh38 Chromosome 14, 92021762: 92021762
10 TRIP11 NM_004239.4(TRIP11): c.2498_2501del (p.Lys833Ilefs) deletion Likely pathogenic rs1085307101 GRCh37 Chromosome 14, 92471819: 92471822
11 TRIP11 NM_004239.4(TRIP11): c.2498_2501del (p.Lys833Ilefs) deletion Likely pathogenic rs1085307101 GRCh38 Chromosome 14, 92005475: 92005478
12 TRIP11 NM_004239.4(TRIP11): c.5781G> A (p.Ser1927=) single nucleotide variant Benign/Likely benign rs3742719 GRCh38 Chromosome 14, 91969832: 91969832
13 TRIP11 NM_004239.4(TRIP11): c.5781G> A (p.Ser1927=) single nucleotide variant Benign/Likely benign rs3742719 GRCh37 Chromosome 14, 92436176: 92436176
14 TRIP11 NM_004239.4(TRIP11): c.4812T> C (p.Asp1604=) single nucleotide variant Benign/Likely benign rs17127837 GRCh37 Chromosome 14, 92465664: 92465664
15 TRIP11 NM_004239.4(TRIP11): c.4812T> C (p.Asp1604=) single nucleotide variant Benign/Likely benign rs17127837 GRCh38 Chromosome 14, 91999320: 91999320
16 TRIP11 NM_004239.4(TRIP11): c.4050A> C (p.Glu1350Asp) single nucleotide variant Uncertain significance rs548160101 GRCh38 Chromosome 14, 92003926: 92003926
17 TRIP11 NM_004239.4(TRIP11): c.4050A> C (p.Glu1350Asp) single nucleotide variant Uncertain significance rs548160101 GRCh37 Chromosome 14, 92470270: 92470270
18 TRIP11 NM_004239.4(TRIP11): c.405T> C (p.Ala135=) single nucleotide variant Benign/Likely benign rs77981249 GRCh38 Chromosome 14, 92021739: 92021739
19 TRIP11 NM_004239.4(TRIP11): c.405T> C (p.Ala135=) single nucleotide variant Benign/Likely benign rs77981249 GRCh37 Chromosome 14, 92488083: 92488083
20 TRIP11 NM_004239.4(TRIP11): c.5470G> A (p.Asp1824Asn) single nucleotide variant Uncertain significance rs550137986 GRCh37 Chromosome 14, 92441075: 92441075
21 TRIP11 NM_004239.4(TRIP11): c.5470G> A (p.Asp1824Asn) single nucleotide variant Uncertain significance rs550137986 GRCh38 Chromosome 14, 91974731: 91974731
22 TRIP11 NM_004239.4(TRIP11): c.5719+2T> C single nucleotide variant Conflicting interpretations of pathogenicity rs199736345 GRCh37 Chromosome 14, 92439059: 92439059
23 TRIP11 NM_004239.4(TRIP11): c.5719+2T> C single nucleotide variant Conflicting interpretations of pathogenicity rs199736345 GRCh38 Chromosome 14, 91972715: 91972715
24 TRIP11 NM_004239.4(TRIP11): c.754C> A (p.Arg252=) single nucleotide variant Benign/Likely benign rs186197454 GRCh37 Chromosome 14, 92482109: 92482109
25 TRIP11 NM_004239.4(TRIP11): c.754C> A (p.Arg252=) single nucleotide variant Benign/Likely benign rs186197454 GRCh38 Chromosome 14, 92015765: 92015765
26 TRIP11 NM_004239.4(TRIP11): c.5169G> A (p.Leu1723=) single nucleotide variant Benign rs2038276 GRCh37 Chromosome 14, 92454719: 92454719
27 TRIP11 NM_004239.4(TRIP11): c.5169G> A (p.Leu1723=) single nucleotide variant Benign rs2038276 GRCh38 Chromosome 14, 91988375: 91988375
28 TRIP11 NM_004239.4(TRIP11): c.1547A> G (p.Asp516Gly) single nucleotide variant Uncertain significance rs1018806781 GRCh38 Chromosome 14, 92006429: 92006429
29 TRIP11 NM_004239.4(TRIP11): c.1547A> G (p.Asp516Gly) single nucleotide variant Uncertain significance rs1018806781 GRCh37 Chromosome 14, 92472773: 92472773
30 TRIP11 NM_004239.4(TRIP11): c.1159G> A (p.Val387Met) single nucleotide variant Uncertain significance rs376669587 GRCh38 Chromosome 14, 92014242: 92014242
31 TRIP11 NM_004239.4(TRIP11): c.1159G> A (p.Val387Met) single nucleotide variant Uncertain significance rs376669587 GRCh37 Chromosome 14, 92480586: 92480586
32 TRIP11 NM_004239.4(TRIP11): c.1280T> A (p.Leu427Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 92477364: 92477364
33 TRIP11 NM_004239.4(TRIP11): c.1280T> A (p.Leu427Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 92011020: 92011020
34 TRIP11 NM_004239.4(TRIP11): c.1271T> G (p.Ile424Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 92477373: 92477373
35 TRIP11 NM_004239.4(TRIP11): c.1271T> G (p.Ile424Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 92011029: 92011029
36 TRIP11 NM_004239.4(TRIP11): c.617_618delCT (p.Ser206Terfs) deletion Pathogenic GRCh37 Chromosome 14, 92484065: 92484066
37 TRIP11 NM_004239.4(TRIP11): c.617_618delCT (p.Ser206Terfs) deletion Pathogenic GRCh38 Chromosome 14, 92017721: 92017722
38 TRIP11 NM_004239.4(TRIP11): c.5149A> T (p.Ile1717Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 91993820: 91993820
39 TRIP11 NM_004239.4(TRIP11): c.5149A> T (p.Ile1717Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 92460164: 92460164
40 TRIP11 NM_004239.4(TRIP11): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 92005419: 92005419
41 TRIP11 NM_004239.4(TRIP11): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 92471763: 92471763
42 TRIP11 NM_004239.4(TRIP11): c.2138C> A (p.Thr713Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 92005838: 92005838
43 TRIP11 NM_004239.4(TRIP11): c.2138C> A (p.Thr713Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 92472182: 92472182
44 TRIP11 NM_004239.4(TRIP11): c.5479G> T (p.Gly1827Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 91974722: 91974722
45 TRIP11 NM_004239.4(TRIP11): c.5479G> T (p.Gly1827Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 92441066: 92441066
46 TRIP11 NM_004239.4(TRIP11): c.3352_3353delGA (p.Glu1118Ilefs) deletion Pathogenic GRCh38 Chromosome 14, 92004623: 92004624
47 TRIP11 NM_004239.4(TRIP11): c.3352_3353delGA (p.Glu1118Ilefs) deletion Pathogenic GRCh37 Chromosome 14, 92470967: 92470968
48 TRIP11 NM_004239.4(TRIP11): c.1265T> C (p.Met422Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 92011035: 92011035
49 TRIP11 NM_004239.4(TRIP11): c.1265T> C (p.Met422Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 92477379: 92477379
50 TRIP11 NM_004239.4(TRIP11): c.2128_2129del (p.Ile710Cysfs) deletion Pathogenic GRCh37 Chromosome 14, 92472191: 92472192

Expression for Achondrogenesis, Type Ia

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

Pathways for Achondrogenesis, Type Ia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 ACAN COL2A1 MATN1 MATN3 MATN4
2 11.07 ACAN COL2A1
3 10.89 ACAN COL2A1 MATN4
4 10.68 ACAN MATN1 MATN3 MATN4

GO Terms for Achondrogenesis, Type Ia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 ACAN COL2A1 MATN1 MATN2 MATN3 MATN4
2 extracellular space GO:0005615 9.72 COL2A1 MATN1 MATN2 MATN3 MATN4
3 basement membrane GO:0005604 9.33 ACAN COL2A1 MATN2
4 collagen-containing extracellular matrix GO:0062023 9.26 ACAN COL2A1 MATN1 MATN2
5 extracellular matrix GO:0031012 9.1 ACAN COL2A1 MATN1 MATN2 MATN3 MATN4

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

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.4 COL2A1 SLC26A2
2 bone development GO:0060348 9.37 COL2A1 TRIP11
3 extracellular matrix organization GO:0030198 9.35 ACAN COL2A1 MATN1 MATN3 MATN4
4 skeletal system development GO:0001501 9.33 ACAN COL2A1 MATN3
5 collagen fibril organization GO:0030199 9.32 ACAN COL2A1
6 cartilage condensation GO:0001502 9.26 ACAN COL2A1
7 growth plate cartilage chondrocyte morphogenesis GO:0003429 8.92 MATN1 MATN2 MATN3 MATN4

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 ACAN MATN1 MATN2 MATN3 MATN4
2 extracellular matrix structural constituent GO:0005201 9.02 ACAN COL2A1 MATN1 MATN2 MATN3

Sources for Achondrogenesis, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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