AO2
MCID: ATL015
MIFTS: 36

Atelosteogenesis, Type Ii (AO2)

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

Aliases & Classifications for Atelosteogenesis, Type Ii

MalaCards integrated aliases for Atelosteogenesis, Type Ii:

Name: Atelosteogenesis, Type Ii 58 77 56 41
De La Chapelle Dysplasia 58 25 54 26 6 74
Atelosteogenesis Type 2 25 54 26 30 6 74
Ao2 58 54 26 76
Neonatal Osseous Dysplasia 1 54 26 76
Atelosteogenesis Type Ii 76 38
Mcalister Dysplasia 25 26
Atelosteogenesis Ii 54 13
Aoii 58 54
Atelosteogenesis De La Chapelle Type 26
Neonatal Osseous Dysplasia Type I 76
Neonatal Osseous Dysplasia I 58
Atelosteogenesis, Type 2 26
Atelosteogenesis 2 76
Ao-Ii 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic to diastrophic dysplasia , achondrogenesis, type 1b , and multiple epiphyseal dysplasia, type 4


HPO:

33
atelosteogenesis, type ii:
Clinical modifier stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Atelosteogenesis, Type Ii

NIH Rare Diseases : 54 Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). Atelosteogenesis type 2 causes serious health problems and infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.

MalaCards based summary : Atelosteogenesis, Type Ii, also known as de la chapelle dysplasia, is related to atelosteogenesis and diastrophic dysplasia. An important gene associated with Atelosteogenesis, Type Ii is SLC26A2 (Solute Carrier Family 26 Member 2). The drugs Dexmedetomidine and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are short neck and genu valgum

Genetics Home Reference : 26 Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).

UniProtKB/Swiss-Prot : 76 Atelosteogenesis 2: A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.

Wikipedia : 77 Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and... more...

Description from OMIM: 256050
GeneReviews: NBK1317

Related Diseases for Atelosteogenesis, Type Ii

Diseases in the Atelosteogenesis family:

Atelosteogenesis, Type I Atelosteogenesis, Type Iii
Atelosteogenesis, Type Ii

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

# Related Disease Score Top Affiliating Genes
1 atelosteogenesis 10.5
2 diastrophic dysplasia 10.4
3 epiphyseal dysplasia, multiple, 4 10.2
4 achondrogenesis, type ib 10.2
5 intraocular pressure quantitative trait locus 10.2

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



Diseases related to Atelosteogenesis, Type Ii

Symptoms & Phenotypes for Atelosteogenesis, Type Ii

Human phenotypes related to Atelosteogenesis, Type Ii:

33 (show top 50) (show all 64)
# Description HPO Frequency HPO Source Accession
1 short neck 33 frequent (33%) HP:0000470
2 genu valgum 33 frequent (33%) HP:0002857
3 abnormal facial shape 33 frequent (33%) HP:0001999
4 narrow chest 33 frequent (33%) HP:0000774
5 upper limb undergrowth 33 frequent (33%) HP:0009824
6 metatarsus adductus 33 frequent (33%) HP:0001840
7 brachydactyly 33 frequent (33%) HP:0001156
8 sandal gap 33 frequent (33%) HP:0001852
9 short metacarpal 33 frequent (33%) HP:0010049
10 pulmonary hypoplasia 33 frequent (33%) HP:0002089
11 bilateral talipes equinovarus 33 frequent (33%) HP:0001776
12 short lower limbs 33 frequent (33%) HP:0006385
13 tibial torsion 33 frequent (33%) HP:0100694
14 short phalanx of finger 33 frequent (33%) HP:0009803
15 bell-shaped thorax 33 frequent (33%) HP:0001591
16 tracheobronchomalacia 33 frequent (33%) HP:0002786
17 camptodactyly 33 frequent (33%) HP:0012385
18 laryngeal stenosis 33 frequent (33%) HP:0001602
19 short femur 33 frequent (33%) HP:0003097
20 short ribs 33 frequent (33%) HP:0000773
21 broad phalanx 33 frequent (33%) HP:0006009
22 equinovarus deformity 33 frequent (33%) HP:0008110
23 ulnar deviation of the hand or of fingers of the hand 33 frequent (33%) HP:0001193
24 thoracolumbar kyphoscoliosis 33 frequent (33%) HP:0003423
25 rhizomelic arm shortening 33 frequent (33%) HP:0004991
26 broad metacarpals 33 frequent (33%) HP:0001230
27 hitchhiker thumb 33 frequent (33%) HP:0001234
28 dumbbell-shaped femur 33 frequent (33%) HP:0006375
29 laryngeal cartilage malformation 33 frequent (33%) HP:0008752
30 excessive femoral anteversion 33 frequent (33%) HP:0012427
31 hypertelorism 33 occasional (7.5%) HP:0000316
32 low-set ears 33 occasional (7.5%) HP:0000369
33 long philtrum 33 occasional (7.5%) HP:0000343
34 micrognathia 33 occasional (7.5%) HP:0000347
35 micromelia 33 occasional (7.5%) HP:0002983
36 epicanthus 33 occasional (7.5%) HP:0000286
37 elbow flexion contracture 33 occasional (7.5%) HP:0002987
38 telecanthus 33 occasional (7.5%) HP:0000506
39 polyhydramnios 33 occasional (7.5%) HP:0001561
40 thin upper lip vermilion 33 occasional (7.5%) HP:0000219
41 midface retrusion 33 occasional (7.5%) HP:0011800
42 hypoplastic cervical vertebrae 33 occasional (7.5%) HP:0008434
43 plagiocephaly 33 occasional (7.5%) HP:0001357
44 wide nasal base 33 occasional (7.5%) HP:0012810
45 protuberant abdomen 33 occasional (7.5%) HP:0001538
46 cervical kyphosis 33 occasional (7.5%) HP:0002947
47 bilateral cleft palate 33 occasional (7.5%) HP:0100337
48 facial midline hemangioma 33 occasional (7.5%) HP:0004664
49 elbow dislocation 33 very rare (1%) HP:0003042
50 malar flattening 33 HP:0000272

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
platyspondyly
lumbar hyperlordosis
cervical kyphosis
horizontal sacrum
more
Head And Neck Face:
micrognathia
midface hypoplasia

Chest Ribs Sternum Clavicles And Scapulae:
small thorax

Prenatal Manifestations Delivery:
stillborn or death shortly after birth

Laboratory Abnormalities:
lacunar halos around chondrocytes in skeletal cartilage

Respiratory Lung:
respiratory insufficiency
pulmonary hypoplasia

Head And Neck Mouth:
cleft palate

Skeletal Limbs:
talipes equinovarus
severe micromelia
bifid distal humerus
short, dumbbell femur
abducted thumbs and great toes
more
Skeletal Pelvis:
shortened sacroiliac notches
round-shaped iliac bones
flat acetabulae

Head And Neck Nose:
flattened nasal bridge

Clinical features from OMIM:

256050

Drugs & Therapeutics for Atelosteogenesis, Type Ii

Drugs for Atelosteogenesis, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
2 Central Nervous System Depressants Phase 4,Not Applicable
3 Peripheral Nervous System Agents Phase 4
4 Adrenergic Agonists Phase 4
5 Analgesics, Non-Narcotic Phase 4
6 Adrenergic alpha-Agonists Phase 4
7 Analgesics Phase 4
8 Neurotransmitter Agents Phase 4
9 Adrenergic alpha-2 Receptor Agonists Phase 4
10 Adrenergic Agents Phase 4
11 Hypnotics and Sedatives Phase 4
12
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
13 Immunologic Factors Phase 2
14
Nimodipine Approved, Investigational Not Applicable 66085-59-4 4497
15
Desflurane Approved Not Applicable 57041-67-5 42113
16 Anesthetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dexmedetomidine Versus Standard Clinical Practice During Non Invasive Mechanical Ventilation Recruiting NCT02958150 Phase 4 Dexmedetomidine
2 Inhalation of Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) for Autoimmune Pulmonary Alveolar Proteinosis (PAP) Unknown status NCT02243228 Phase 2 GM-CSF
3 Comparison of Gas Consumption From Two Different Anesthesia Machines Completed NCT02774031 Not Applicable

Search NIH Clinical Center for Atelosteogenesis, Type Ii

Genetic Tests for Atelosteogenesis, Type Ii

Genetic tests related to Atelosteogenesis, Type Ii:

# Genetic test Affiliating Genes
1 Atelosteogenesis Type 2 30 SLC26A2

Anatomical Context for Atelosteogenesis, Type Ii

MalaCards organs/tissues related to Atelosteogenesis, Type Ii:

42
Bone

Publications for Atelosteogenesis, Type Ii

Articles related to Atelosteogenesis, Type Ii:

(show all 19)
# Title Authors Year
1
Multiple SLC26A2 mutations occurring in a three-generational family. ( 29024831 )
2018
2
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ( 21077202 )
2010
3
Fetal MR imaging of atelosteogenesis type II (AO-II). ( 18716767 )
2008
4
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. ( 18708426 )
2008
5
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ( 16642506 )
2006
6
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. ( 16052470 )
2005
7
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
8
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. ( 11565064 )
2001
9
Sulphate transporter gene mutations in apparently isolated club foot. ( 11303514 )
2001
10
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. ( 10465113 )
1999
11
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. ( 9843047 )
1998
12
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
13
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. ( 8571951 )
1996
14
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. ( 8931695 )
1996
15
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. ( 7632220 )
1994
16
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. ( 7923357 )
1994
17
Atelosteogenesis type II: sonographic and radiological correlation. ( 1279661 )
1992
18
de la Chapelle dysplasia. ( 3799721 )
1986
19
[A rare lethal bone dysplasia with recessive autosomic transmission]. ( 4644462 )
1972

Variations for Atelosteogenesis, Type Ii

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

76
# Symbol AA change Variation ID SNP ID
1 SLC26A2 p.Gly255Glu VAR_007434 rs104893917
2 SLC26A2 p.Arg279Trp VAR_007435 rs104893915
3 SLC26A2 p.Ala715Val VAR_007439 rs104893918

ClinVar genetic disease variations for Atelosteogenesis, Type Ii:

6 (show top 50) (show all 80)
# 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.764G> A (p.Gly255Glu) single nucleotide variant Uncertain significance rs104893917 GRCh37 Chromosome 5, 149359920: 149359920
8 SLC26A2 NM_000112.3(SLC26A2): c.764G> A (p.Gly255Glu) single nucleotide variant Uncertain significance rs104893917 GRCh38 Chromosome 5, 149980357: 149980357
9 SLC26A2 NM_000112.3(SLC26A2): c.2144C> T (p.Ala715Val) single nucleotide variant Uncertain significance rs104893918 GRCh37 Chromosome 5, 149361300: 149361300
10 SLC26A2 NM_000112.3(SLC26A2): c.2144C> T (p.Ala715Val) single nucleotide variant Uncertain significance rs104893918 GRCh38 Chromosome 5, 149981737: 149981737
11 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
12 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh38 Chromosome 5, 149978184: 149978184
13 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh37 Chromosome 5, 149340544: 149340544
14 SLC26A2 NM_000112.3(SLC26A2): c.-26+2T> C single nucleotide variant Pathogenic rs386833492 GRCh38 Chromosome 5, 149960981: 149960981
15 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
16 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh38 Chromosome 5, 149981550: 149981550
17 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh37 Chromosome 5, 149360691: 149360691
18 SLC26A2 NM_000112.3(SLC26A2): c.1535C> A (p.Thr512Lys) single nucleotide variant Pathogenic rs121908078 GRCh38 Chromosome 5, 149981128: 149981128
19 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh37 Chromosome 5, 149360550: 149360550
20 SLC26A2 NM_000112.3(SLC26A2): c.1394delT (p.Leu465Cysfs) deletion Likely pathogenic rs386833495 GRCh38 Chromosome 5, 149980987: 149980987
21 SLC26A2 NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs) deletion Conflicting interpretations of pathogenicity rs386833497 GRCh37 Chromosome 5, 149360806: 149360806
22 SLC26A2 NM_000112.3(SLC26A2): c.1650delG (p.Ser551Valfs) deletion Conflicting interpretations of pathogenicity rs386833497 GRCh38 Chromosome 5, 149981243: 149981243
23 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh37 Chromosome 5, 149361132: 149361132
24 SLC26A2 NM_000112.3(SLC26A2): c.1976delT (p.Leu659Terfs) deletion Likely pathogenic rs386833499 GRCh38 Chromosome 5, 149981569: 149981569
25 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh37 Chromosome 5, 149360630: 149360630
26 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh38 Chromosome 5, 149981067: 149981067
27 SLC26A2 NM_000112.3(SLC26A2): c.374A> T (p.Gln125Leu) single nucleotide variant Pathogenic rs875989951 GRCh37 Chromosome 5, 149357589: 149357589
28 SLC26A2 NM_000112.3(SLC26A2): c.374A> T (p.Gln125Leu) single nucleotide variant Pathogenic rs875989951 GRCh38 Chromosome 5, 149978026: 149978026
29 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
30 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
31 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh37 Chromosome 5, 149357444: 149357444
32 SLC26A2 NM_000112.3(SLC26A2): c.229A> C (p.Asn77His) single nucleotide variant Benign rs76784312 GRCh38 Chromosome 5, 149977881: 149977881
33 SLC26A2 NM_000112.3(SLC26A2): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance rs139051143 GRCh37 Chromosome 5, 149360237: 149360237
34 SLC26A2 NM_000112.3(SLC26A2): c.1081G> A (p.Ala361Thr) single nucleotide variant Uncertain significance rs139051143 GRCh38 Chromosome 5, 149980674: 149980674
35 SLC26A2 NM_000112.3(SLC26A2): c.1744C> T (p.Arg582Cys) single nucleotide variant Uncertain significance rs142542254 GRCh38 Chromosome 5, 149981337: 149981337
36 SLC26A2 NM_000112.3(SLC26A2): c.1744C> T (p.Arg582Cys) single nucleotide variant Uncertain significance rs142542254 GRCh37 Chromosome 5, 149360900: 149360900
37 SLC26A2 NM_000112.3(SLC26A2): c.1046T> A (p.Phe349Tyr) single nucleotide variant Uncertain significance rs114212275 GRCh38 Chromosome 5, 149980639: 149980639
38 SLC26A2 NM_000112.3(SLC26A2): c.1046T> A (p.Phe349Tyr) single nucleotide variant Uncertain significance rs114212275 GRCh37 Chromosome 5, 149360202: 149360202
39 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh37 Chromosome 5, 149357400: 149357400
40 SLC26A2 NM_000112.3(SLC26A2): c.185C> G (p.Ser62Ter) single nucleotide variant Likely pathogenic rs1057517523 GRCh38 Chromosome 5, 149977837: 149977837
41 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh38 Chromosome 5, 149977840: 149977840
42 SLC26A2 NM_000112.3(SLC26A2): c.188delA (p.Asp63Valfs) deletion Likely pathogenic rs1057517496 GRCh37 Chromosome 5, 149357403: 149357403
43 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh38 Chromosome 5, 149977859: 149977859
44 SLC26A2 NM_000112.3(SLC26A2): c.207delT (p.Phe69Leufs) deletion Likely pathogenic rs1057517462 GRCh37 Chromosome 5, 149357422: 149357422
45 SLC26A2 NM_000112.3(SLC26A2): c.239_243dup (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh38 Chromosome 5, 149977891: 149977895
46 SLC26A2 NM_000112.3(SLC26A2): c.239_243dup (p.Pro82Alafs) duplication Likely pathogenic rs1057517504 GRCh37 Chromosome 5, 149357454: 149357458
47 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs763198695 GRCh37 Chromosome 5, 149357700: 149357701
48 SLC26A2 NM_000112.3(SLC26A2): c.485_486delTG (p.Val162Glyfs) deletion Likely pathogenic rs763198695 GRCh38 Chromosome 5, 149978137: 149978138
49 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh38 Chromosome 5, 149978193: 149978193
50 SLC26A2 NM_000112.3(SLC26A2): c.541C> T (p.Gln181Ter) single nucleotide variant Likely pathogenic rs1057517483 GRCh37 Chromosome 5, 149357756: 149357756

Expression for Atelosteogenesis, Type Ii

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

Pathways for Atelosteogenesis, Type Ii

GO Terms for Atelosteogenesis, Type Ii

Sources for Atelosteogenesis, Type Ii

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