MCID: ACH041
MIFTS: 53

Achondrogenesis, Type Ii

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

Aliases & Classifications for Achondrogenesis, Type Ii

MalaCards integrated aliases for Achondrogenesis, Type Ii:

Name: Achondrogenesis, Type Ii 57 29 55 6 40
Achondrogenesis Type Ii 12 76 75 37 15
Achondrogenesis, Langer-Saldino Type 57 53 59
Achondrogenesis Type 2 76 53 59
Acg2 57 53 75
Achondrogenesis, Type Ii or Hypochondrogenesis 57 13
Chondrogenesis Imperfecta 57 53
Hypochondrogenesis 59 73
Achondrogenesis-Hypochondrogenesis Type Ii 75
Achondrogenesis Langer-Saldino Type 75
Achondrogenesis, Type Ib, Formerly 57
Langer-Saldino Achondrogenesis 53
Achondrogenesis 2 75
Acg-Ii 75

Characteristics:

Orphanet epidemiological data:

59
achondrogenesis type 2
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;
hypochondrogenesis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
stillborn or death shortly after birth
most cases result from de novo mutations
hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum


HPO:

32
achondrogenesis, type ii:
Mortality/Aging stillbirth
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Achondrogenesis, Type Ii

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 Ii, also known as achondrogenesis type ii, is related to achondrogenesis and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Achondrogenesis, Type Ii is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include vertebral column or, bone and lung, and related phenotypes are macrocephaly and long philtrum

OMIM : 57 Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010). (200610)

UniProtKB/Swiss-Prot : 75 Achondrogenesis 2: An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.

Disease Ontology : 12 An achondrogenesis that has material basis in mutations in the COL2A1 gene which results in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located in vertebral column or located in pelvis.

Wikipedia : 76 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

Related Diseases for Achondrogenesis, Type Ii

Diseases in the Achondrogenesis family:

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

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis 31.8 COL2A1 DYNC2H1
2 spondyloepiphyseal dysplasia with congenital joint dislocations 31.4 ACAN COL2A1
3 spondyloepiphyseal dysplasia congenita 30.4 COL11A1 COL2A1 COMP SEMA3A
4 hypochondrogenesis 27.5 ACAN COL11A1 COL2A1 COMP FMOD LOC105369752
5 chondrodysplasia, grebe type 11.1
6 epiphyseal dysplasia, multiple, with myopia and conductive deafness 10.7 COL2A1 LOC105369752
7 spondyloperipheral dysplasia 10.7 COL2A1 LOC105369752
8 osteoarthritis with mild chondrodysplasia 10.7 COL2A1 LOC105369752
9 marshall syndrome 10.6 COL11A1 COL2A1
10 retinal perforation 10.6 COL11A1 COL2A1
11 otospondylomegaepiphyseal dysplasia 10.6 COL11A1 COL2A1
12 familial avascular necrosis of the femoral head 10.6 COL2A1 TRPV4
13 vitreous syneresis 10.6 COL11A1 COL2A1
14 osteochondrosis 10.6 CD36 COL2A1
15 macroglossia 10.6 COL11A1 COL2A1
16 vitreoretinal dystrophy 10.6 COL11A1 COL2A1
17 vitreoretinal degeneration 10.5 COL11A1 COL2A1
18 brachyolmia 10.4 COL2A1 TRPV4
19 metaphyseal chondrodysplasia, jansen type 10.4 COL2A1 TRPV4
20 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.4 COL2A1 SEMA3A
21 stickler syndrome 10.4 COL11A1 COL2A1
22 diastrophic dysplasia 10.2 COL2A1 COMP
23 spondyloepimetaphyseal dysplasia, strudwick type 10.1 COL2A1 LOC105369752 SEMA3A
24 achondrogenesis, type ia 10.1 ACAN COL2A1
25 relapsing polychondritis 10.0 COMP MATN1
26 ischemic bone disease 9.9 ACAN COL2A1
27 odontogenic myxoma 9.9 ACAN CD36
28 bone deterioration disease 9.9 ACAN COL2A1
29 myopia 9.9 COL11A1 COL2A1 FMOD
30 polydactyly 9.9
31 cystic lymphangioma 9.9
32 type i 9.9
33 bone development disease 9.9 COL2A1 COMP
34 brittle bone disorder 9.8 CD36 COL2A1
35 skeletal dysplasias 9.8 COL2A1 COMP TRPV4
36 spinal stenosis 9.8 ACAN COL2A1
37 brachydactyly 9.8 COL2A1 COMP TRPV4
38 bone structure disease 9.8 ACAN COL2A1
39 bone disease 9.6 ACAN CD36 COL2A1
40 transient arthritis 9.6 ACAN COMP
41 osteochondritis dissecans 9.5 ACAN COMP
42 scoliosis 9.5 ACAN COL2A1 MATN1
43 cartilage disease 9.4 ACAN COL2A1 COMP
44 multiple epiphyseal dysplasia 9.4 ACAN COL2A1 COMP
45 bone inflammation disease 9.4 ACAN COL2A1 COMP
46 osteoarthritis 9.3 ACAN COL2A1 COMP
47 achondroplasia 9.3 ACAN COMP
48 pseudoachondroplasia 9.3 ACAN COMP FMOD
49 idiopathic scoliosis 9.2 ACAN MATN1
50 arthropathy 9.2 ACAN COMP TRPV4

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



Diseases related to Achondrogenesis, Type Ii

Symptoms & Phenotypes for Achondrogenesis, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Hands:
short tubular bones

Chest Ribs Sternum Clavicles And Scapulae:
short, horizontal ribs
normal clavicles

Abdomen External Features:
distended abdomen

Skeletal Spine:
absent vertebral body mineralization

Skeletal Limbs:
very short, broad tubular bones
flared, cupped metaphyses

Prenatal Manifestations Delivery:
stillborn or death shortly after birth

Head And Neck Neck:
cystic hygroma

Chest External Features:
barrel-shaped chest
short trunk

Skeletal Feet:
short tubular bones
non-ossified talus and calcaneus

Growth Height:
dwarfism, marked micromelic

Skeletal Skull:
enlarged calvaria with normal ossification

Skeletal Pelvis:
non-ossified sacrum, ischial, and pubic bones
small iliac wings with concave inferior and medial margin

Prenatal Manifestations:
fetal hydrops


Clinical features from OMIM:

200610

Human phenotypes related to Achondrogenesis, Type Ii:

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 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
9 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
10 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
11 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
12 hydrops fetalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001789
13 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
14 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
15 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
16 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
17 abnormal enchondral ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0003336
18 lethal skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005716
19 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
20 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
21 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
22 femoral hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100541
23 malformation of the heart and great vessels 59 Occasional (29-5%)
24 thoracic hypoplasia 59 Very frequent (99-80%)
25 cleft palate 32 HP:0000175
26 short ribs 32 HP:0000773
27 horizontal ribs 32 HP:0000888
28 edema 32 HP:0000969
29 short tubular bones of the hand 32 HP:0001248
30 barrel-shaped chest 32 HP:0001552
31 abnormality of the foot 32 HP:0001760
32 hypoplastic iliac wing 32 HP:0002866
33 short long bone 32 HP:0003026
34 disproportionate short-trunk short stature 32 HP:0003521
35 absent vertebral body mineralization 32 HP:0004605
36 broad long bones 32 HP:0005622
37 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

MGI Mouse Phenotypes related to Achondrogenesis, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 DYNC2H1 FMOD SEMA3A TRPV4 CD36 COL2A1
2 limbs/digits/tail MP:0005371 9.65 COL11A1 COL2A1 COMP DYNC2H1 FMOD
3 renal/urinary system MP:0005367 9.55 CD36 COL2A1 DYNC2H1 SEMA3A TRPV4
4 respiratory system MP:0005388 9.35 COL11A1 COL2A1 DYNC2H1 SEMA3A TRPV4
5 skeleton MP:0005390 9.23 CD36 COL11A1 COL2A1 COMP DYNC2H1 FMOD

Drugs & Therapeutics for Achondrogenesis, Type Ii

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

Genetic Tests for Achondrogenesis, Type Ii

Genetic tests related to Achondrogenesis, Type Ii:

# Genetic test Affiliating Genes
1 Achondrogenesis, Type Ii 29 COL2A1

Anatomical Context for Achondrogenesis, Type Ii

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

19
Vertebral Column Or

MalaCards organs/tissues related to Achondrogenesis, Type Ii:

41
Bone, Lung, Testes, Skin, Heart

Publications for Achondrogenesis, Type Ii

Articles related to Achondrogenesis, Type Ii:

(show all 20)
# Title Authors Year
1
Antenatal diagnosis of achondrogenesis type II. ( 20387359 )
2009
2
Achondrogenesis type II with cutaneous hamartomata. ( 18541971 )
2008
3
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. ( 17994563 )
2007
4
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). ( 15574381 )
2005
5
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. ( 15054848 )
2004
6
Achondrogenesis type II with normally developed extremities: a case report. ( 12124695 )
2002
7
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. ( 11730591 )
2001
8
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ( 10797431 )
2000
9
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. ( 11069003 )
2000
10
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. ( 10586482 )
1999
11
Achondrogenesis type II (Langer-Saldino)--a case report. ( 8798967 )
1995
12
Achondrogenesis type II with polydactyly. ( 8588578 )
1995
13
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. ( 7829510 )
1995
14
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. ( 7757081 )
1995
15
Achondrogenesis type II (Langer-Saldino). ( 8375887 )
1993
16
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. ( 2671977 )
1989
17
Achondrogenesis type II. ( 3222064 )
1988
18
Achondrogenesis type II, abnormalities of extracellular matrix. ( 3309860 )
1987
19
Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino). ( 7036745 )
1981
20
Achondrogenesis type II in twins. ( 7192589 )
1981

Variations for Achondrogenesis, Type Ii

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

75 (show all 22)
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly510Asp VAR_001747
2 COL2A1 p.Gly891Arg VAR_001752 rs121912879
3 COL2A1 p.Gly969Ser VAR_001754 rs121912878
4 COL2A1 p.Gly1017Val VAR_001757
5 COL2A1 p.Gly1110Cys VAR_001759
6 COL2A1 p.Gly1143Ser VAR_001761
7 COL2A1 p.Gly1188Arg VAR_001764
8 COL2A1 p.Gly453Asp VAR_017639
9 COL2A1 p.Gly453Val VAR_017640
10 COL2A1 p.Gly771Asp VAR_017641
11 COL2A1 p.Gly780Arg VAR_017642
12 COL2A1 p.Gly795Arg VAR_017643
13 COL2A1 p.Gly894Glu VAR_017644
14 COL2A1 p.Gly948Asp VAR_017646
15 COL2A1 p.Gly981Ser VAR_017647
16 COL2A1 p.Gly1065Val VAR_017649
17 COL2A1 p.Gly1119Arg VAR_017650
18 COL2A1 p.Gly516Asp VAR_023926 rs121912888
19 COL2A1 p.Gly513Ser VAR_024819
20 COL2A1 p.Gly717Val VAR_024820
21 COL2A1 p.Gly771Ala VAR_024821
22 COL2A1 p.Asp547Val VAR_063897

ClinVar genetic disease variations for Achondrogenesis, Type Ii:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3220G> A (p.Gly1074Ser) single nucleotide variant Pathogenic rs121912864 GRCh37 Chromosome 12, 48371156: 48371156
2 COL2A1 NM_001844.4(COL2A1): c.3220G> A (p.Gly1074Ser) single nucleotide variant Pathogenic rs121912864 GRCh38 Chromosome 12, 47977373: 47977373
3 COL2A1 NM_001844.4(COL2A1): c.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 GRCh37 Chromosome 12, 48375925: 48375925
4 COL2A1 NM_001844.4(COL2A1): c.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 GRCh38 Chromosome 12, 47982142: 47982142
5 COL2A1 NM_001844.4(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic rs121912868 GRCh37 Chromosome 12, 48371390: 48371390
6 COL2A1 NM_001844.4(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic rs121912868 GRCh38 Chromosome 12, 47977607: 47977607
7 COL2A1 NM_001844.4(COL2A1): c.2905G> A (p.Gly969Ser) single nucleotide variant Pathogenic rs121912878 GRCh37 Chromosome 12, 48372172: 48372172
8 COL2A1 NM_001844.4(COL2A1): c.2905G> A (p.Gly969Ser) single nucleotide variant Pathogenic rs121912878 GRCh38 Chromosome 12, 47978389: 47978389
9 COL2A1 NM_001844.4(COL2A1): c.2671G> C (p.Gly891Arg) single nucleotide variant Pathogenic rs121912879 GRCh37 Chromosome 12, 48373800: 48373800
10 COL2A1 NM_001844.4(COL2A1): c.2671G> C (p.Gly891Arg) single nucleotide variant Pathogenic rs121912879 GRCh38 Chromosome 12, 47980017: 47980017
11 COL2A1 NM_001844.4(COL2A1): c.1547G> A (p.Gly516Asp) single nucleotide variant Pathogenic rs121912888 GRCh37 Chromosome 12, 48379729: 48379729
12 COL2A1 NM_001844.4(COL2A1): c.1547G> A (p.Gly516Asp) single nucleotide variant Pathogenic rs121912888 GRCh38 Chromosome 12, 47985946: 47985946
13 COL2A1 NM_001844.4(COL2A1): c.1637G> T (p.Gly546Val) single nucleotide variant Pathogenic rs121912899 GRCh37 Chromosome 12, 48379554: 48379554
14 COL2A1 NM_001844.4(COL2A1): c.1637G> T (p.Gly546Val) single nucleotide variant Pathogenic rs121912899 GRCh38 Chromosome 12, 47985771: 47985771
15 COL2A1 NM_001844.4(COL2A1): c.2788G> C (p.Gly930Arg) single nucleotide variant Likely pathogenic rs886043540 GRCh37 Chromosome 12, 48372487: 48372487
16 COL2A1 NM_001844.4(COL2A1): c.2788G> C (p.Gly930Arg) single nucleotide variant Likely pathogenic rs886043540 GRCh38 Chromosome 12, 47978704: 47978704
17 COL2A1 NM_001844.4(COL2A1): c.1771G> C (p.Gly591Arg) single nucleotide variant Likely pathogenic rs886043712 GRCh38 Chromosome 12, 47985057: 47985057
18 COL2A1 NM_001844.4(COL2A1): c.1771G> C (p.Gly591Arg) single nucleotide variant Likely pathogenic rs886043712 GRCh37 Chromosome 12, 48378840: 48378840
19 COL2A1 NM_001844.4(COL2A1): c.3062_3079del18 (p.Pro1021_Gly1026del) deletion Likely pathogenic GRCh37 Chromosome 12, 48371825: 48371842
20 COL2A1 NM_001844.4(COL2A1): c.3062_3079del18 (p.Pro1021_Gly1026del) deletion Likely pathogenic GRCh38 Chromosome 12, 47978042: 47978059
21 COL2A1 NM_001844.4(COL2A1): c.1979G> A (p.Gly660Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 48377482: 48377482
22 COL2A1 NM_001844.4(COL2A1): c.1979G> A (p.Gly660Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 47983699: 47983699

Expression for Achondrogenesis, Type Ii

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

Pathways for Achondrogenesis, Type Ii

Pathways related to Achondrogenesis, Type Ii according to KEGG:

37
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Focal adhesion hsa04510
3 ECM-receptor interaction hsa04512

GO Terms for Achondrogenesis, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 CD36 COL11A1 COL2A1 COMP FMOD SEMA3A
2 extracellular region GO:0005576 9.7 ACAN COL11A1 COL2A1 COMP FMOD MATN1
3 collagen trimer GO:0005581 9.13 CD36 COL11A1 COL2A1
4 extracellular matrix GO:0031012 9.02 ACAN COL11A1 COL2A1 COMP FMOD

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.54 ACAN COL2A1 COMP
2 heart morphogenesis GO:0003007 9.49 COL11A1 COL2A1
3 skeletal system morphogenesis GO:0048705 9.48 COL11A1 COL2A1
4 energy homeostasis GO:0097009 9.46 CD36 TRPV4
5 keratan sulfate biosynthetic process GO:0018146 9.43 ACAN FMOD
6 cartilage condensation GO:0001502 9.4 COL11A1 COL2A1
7 keratan sulfate catabolic process GO:0042340 9.32 ACAN FMOD
8 proteoglycan metabolic process GO:0006029 9.26 COL11A1 COL2A1
9 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 COL2A1 TRPV4
10 collagen fibril organization GO:0030199 9.13 COL11A1 COL2A1 FMOD
11 extracellular matrix organization GO:0030198 9.02 ACAN COL11A1 COL2A1 COMP MATN1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.02 ACAN COL11A1 COL2A1 COMP MATN1

Sources for Achondrogenesis, Type Ii

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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