MCID: FTL009
MIFTS: 53

Fetal Akinesia Deformation Sequence

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Fetal Akinesia Deformation Sequence

MalaCards integrated aliases for Fetal Akinesia Deformation Sequence:

Name: Fetal Akinesia Deformation Sequence 54 50 71 13
Fetal Akinesia Sequence 50 71 29
Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia 50 71
Pena-Shokeir Syndrome Type I 29 69
Fads 50 71
Arthrogryposis Multiplex Congenita, Pulmonary Hypoplasia, Cryptorchidism, and Unusual Ophthalmological Findings 50
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia 50
Pena-Shokeir Syndrome, Type 1 50
Pena-Shokeir Syndrome Type 1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
fetal akinesia deformation sequence:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fetal Akinesia Deformation Sequence

NIH Rare Diseases : 50 fetal akinesia deformation sequence (fads) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (iugr), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. it is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. about 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. fads may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the rapsn or dok7 genes. last updated: 10/3/2012

MalaCards based summary : Fetal Akinesia Deformation Sequence, also known as fetal akinesia sequence, is related to dok7-related fetal akinesia deformation sequence and rapsn-related fetal akinesia deformation sequence, and has symptoms including scoliosis, ptosis and hydrocephalus. An important gene associated with Fetal Akinesia Deformation Sequence is RAPSN (Receptor Associated Protein Of The Synapse), and among its related pathways/superpathways are CREB Pathway and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include lung, bone and placenta, and related phenotypes are Increased shRNA abundance (Z-score > 2) and mortality/aging

UniProtKB/Swiss-Prot : 71 Fetal akinesia deformation sequence: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism.

OMIM : 54
The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). (208150)

Wikipedia : 72 Arthrogryposis multiplex congenital (AMC), or simply arthrogryposes, describes congenital joint... more...

Related Diseases for Fetal Akinesia Deformation Sequence

Diseases in the Fetal Akinesia Deformation Sequence family:

Dok7-Related Fetal Akinesia Deformation Sequence Rapsn-Related Fetal Akinesia Deformation Sequence

Diseases related to Fetal Akinesia Deformation Sequence via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 dok7-related fetal akinesia deformation sequence 12.2
2 rapsn-related fetal akinesia deformation sequence 12.2
3 lissencephaly type 3-familial fetal akinesia sequence syndrome 12.1
4 restrictive dermopathy, lethal 11.0
5 glutaric acidemia iic 10.8
6 early-onset, autosomal dominant alzheimer disease 10.8
7 porencephaly 10.1 MUSK RAPSN
8 paraurethral gland cancer 10.0 CHRNG MUSK
9 night blindness 10.0 RAPSN TUBB2B
10 dystonia 2 10.0 DOK7 MUSK RAPSN
11 renal hypodysplasia 10.0 DOK7 MUSK RAPSN
12 neuronitis 9.9
13 polymicrogyria 9.9
14 tubulinopathies 9.9
15 neuroaxonal dystrophy 9.9
16 microlissencephaly 9.9
17 myopathy 9.9
18 distal arthrogryposis 9.9
19 hydranencephaly 9.9
20 congenital myopathy 9.9
21 oligohydramnios 9.9
22 myasthenic syndrome, congenital, 17 9.9 DOK7 MUSK RAPSN
23 sclerosteosis 2 9.9 DOK7 MUSK RAPSN
24 pancreatic acinar cell adenocarcinoma 9.8 MUSK RAPSN
25 small cell lung cancer, adult 9.8 CHRNA1 CHRND
26 nemaline myopathy 9.8
27 choroideremia 9.7
28 paraneoplastic syndromes 9.7
29 artery disease 9.7
30 coronary artery disease 9.7
31 temple syndrome 9.7 CHRND CHRNG
32 familial atrial fibrillation 9.7 CHRNG DOK7 RAPSN
33 prostatitis 9.6
34 alzheimer disease 9.6
35 thyroid cancer 9.6
36 l-2-hydroxyglutaric aciduria 9.6
37 food allergy 9.6
38 cardiomyopathy 9.6
39 congenital methemoglobinemia 9.6
40 dilated cardiomyopathy 9.6
41 cerebritis 9.6
42 antley-bixler syndrome 9.6
43 acute myocarditis 9.6
44 maturity-onset diabetes of the young 9.6
45 encephalopathy 9.6
46 pneumonia 9.6
47 conjunctivitis 9.6
48 tabes dorsalis 9.6
49 thyroiditis 9.6
50 venous insufficiency 9.6

Graphical network of the top 20 diseases related to Fetal Akinesia Deformation Sequence:



Diseases related to Fetal Akinesia Deformation Sequence

Symptoms & Phenotypes for Fetal Akinesia Deformation Sequence

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
ptosis
hypertelorism
prominent eyes
short palpebral fissures
telecanthus

Head And Neck- Face:
micrognathia
long philtrum
rigid, expressionless face

Skeletal- Limbs:
thin, gracile long bones
elbow ankylosis
knee ankylosis

Growth- Other:
intrauterine growth retardation
small for gestational age

Skeletal- Feet:
rocker-bottom feet
talipes equinovarus
ankle ankylosis

Prenatal Manifestations- Placenta And Umbilical Cord:
short umbilical cord
small or abnormal placenta

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Neck:
short neck

Chest- External Features:
small thorax

Head And Neck- Nose:
depressed nasal tip

Skeletal- Pelvis:
hip ankylosis

Neurologic- Central Nervous System:
hydrocephalus
cerebellar hypoplasia
cavum septum pellucidum
absent septum pellucidum
microgyria

Chest- Ribs Sternum Clavicles And Scapulae:
thin ribs

Head And Neck- Mouth:
small mouth
cleft palate
high arched palate

Respiratory- Lung:
pulmonary hypoplasia

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Prenatal Manifestations- Delivery:
premature birth
stillborn (30%)

Skeletal- Hands:
camptodactyly
ulnar deviation of hands
absent or sparse dermal ridges

Muscle Soft Tissue:
neurogenic muscle atrophy

Head And Neck- Ears:
small, posteriorly rotated ears
poorly folded ears

Abdomen- Gastroin testinal:
short-gut syndrome


Clinical features from OMIM:

208150

Human phenotypes related to Fetal Akinesia Deformation Sequence:

32 (show top 50) (show all 51)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 frequent (33%) HP:0002650
2 ptosis 32 HP:0000508
3 hydrocephalus 32 HP:0000238
4 micrognathia 32 hallmark (90%) HP:0000347
5 depressed nasal bridge 32 frequent (33%) HP:0005280
6 hypertelorism 32 frequent (33%) HP:0000316
7 proptosis 32 HP:0000520
8 thin ribs 32 HP:0000883
9 intrauterine growth retardation 32 hallmark (90%) HP:0001511
10 cleft palate 32 frequent (33%) HP:0000175
11 pulmonary hypoplasia 32 hallmark (90%) HP:0002089
12 polyhydramnios 32 frequent (33%) HP:0001561
13 short umbilical cord 32 HP:0001196
14 premature birth 32 HP:0001622
15 cerebellar hypoplasia 32 HP:0001321
16 arthrogryposis multiplex congenita 32 hallmark (90%) HP:0002804
17 posteriorly rotated ears 32 frequent (33%) HP:0000358
18 cryptorchidism 32 frequent (33%) HP:0000028
19 talipes equinovarus 32 HP:0001762
20 short neck 32 HP:0000470
21 telecanthus 32 HP:0000506
22 long philtrum 32 HP:0000343
23 dandy-walker malformation 32 occasional (7.5%) HP:0001305
24 small placenta 32 HP:0006266
25 cavum septum pellucidum 32 HP:0002389
26 hypokinesia 32 hallmark (90%) HP:0002375
27 akinesia 32 hallmark (90%) HP:0002304
28 generalized amyotrophy 32 frequent (33%) HP:0003700
29 respiratory insufficiency 32 hallmark (90%) HP:0002093
30 blepharophimosis 32 HP:0000581
31 cystic hygroma 32 frequent (33%) HP:0000476
32 small for gestational age 32 HP:0001518
33 absent septum pellucidum 32 HP:0001331
34 depressed nasal tip 32 HP:0000437
35 elbow ankylosis 32 HP:0003070
36 thoracic hypoplasia 32 HP:0005257
37 high, narrow palate 32 HP:0002705
38 short palpebral fissure 32 HP:0012745
39 narrow mouth 32 HP:0000160
40 multiple joint contractures 32 hallmark (90%) HP:0002828
41 pterygium 32 occasional (7.5%) HP:0001059
42 abnormality of pelvic girdle bone morphology 32 HP:0002644
43 camptodactyly of finger 32 hallmark (90%) HP:0100490
44 absent palmar crease 32 hallmark (90%) HP:0010489
45 rocker bottom foot 32 HP:0001838
46 intestinal hypoplasia 32 occasional (7.5%) HP:0005245
47 slender long bone 32 HP:0003100
48 fetal akinesia sequence 32 hallmark (90%) HP:0001989
49 abnormality of abdomen morphology 32 HP:0001438
50 ulnar deviation of the hand 32 HP:0009487

GenomeRNAi Phenotypes related to Fetal Akinesia Deformation Sequence according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.72 CHRNA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.72 MUSK
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.72 CHRNA1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.72 MUSK
5 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.72 CHRNA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.72 CHRNA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.72 CHRNG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.72 CHRNG
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.72 MUSK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.72 MUSK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.72 CHRNA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.72 CHRNG MUSK CHRNA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.72 CHRNA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 CHRNA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.72 CHRNA1 MUSK
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 CHRNA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 MUSK CHRNA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 CHRNA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.72 MUSK
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 MUSK
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 CHRNA1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 8.96 CHRNA1 RAPSN

MGI Mouse Phenotypes related to Fetal Akinesia Deformation Sequence:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.8 CHRNA1 CHRNG DOK7 KLHL40 MUSK RAPSN
2 muscle MP:0005369 9.55 DOK7 KLHL40 MUSK RAPSN CHRNG
3 nervous system MP:0003631 9.43 CHRNA1 CHRNG DOK7 MUSK RAPSN TUBB2B
4 respiratory system MP:0005388 9.02 CHRNG DOK7 MUSK RAPSN TUBB2B

Drugs & Therapeutics for Fetal Akinesia Deformation Sequence

Search Clinical Trials , NIH Clinical Center for Fetal Akinesia Deformation Sequence

Genetic Tests for Fetal Akinesia Deformation Sequence

Genetic tests related to Fetal Akinesia Deformation Sequence:

id Genetic test Affiliating Genes
1 Pena-Shokeir Syndrome Type I 29
2 Fetal Akinesia Sequence 29

Anatomical Context for Fetal Akinesia Deformation Sequence

MalaCards organs/tissues related to Fetal Akinesia Deformation Sequence:

39
Lung, Bone, Placenta, Eye, Skeletal Muscle, Brain

Publications for Fetal Akinesia Deformation Sequence

Articles related to Fetal Akinesia Deformation Sequence:

(show all 37)
id Title Authors Year
1
Appropriate use of next generation sequencing facilities for identifying new genetic causes of fetal akinesia deformation sequence (FADS). ( 28784231 )
2017
2
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. ( 28495245 )
2017
3
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ( 26732629 )
2016
4
Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases. ( 26825730 )
2016
5
Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. ( 27762439 )
2016
6
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
7
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). ( 25612909 )
2015
8
Fetal akinesia deformation sequence: expanding the phenotypic spectrum. ( 25045026 )
2014
9
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. ( 25537362 )
2014
10
Discordance in Pena-Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin. ( 22765395 )
2013
11
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review. ( 22482962 )
2012
12
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
13
Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. ( 19968489 )
2010
14
Fetal akinesia deformation sequence. Case report. ( 20212403 )
2010
15
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. ( 19261599 )
2009
16
Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. ( 19645055 )
2009
17
Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS). ( 19944545 )
2009
18
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. ( 18252226 )
2008
19
Fetal akinesia deformation sequence. Pena-Shokeir type I syndrome: new features of an un-uncommon condition. ( 17130047 )
2006
20
Early fetal akinesia deformation sequence: a case report with unusual autoptic features. ( 16147849 )
2005
21
Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy. ( 15192292 )
2004
22
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence. ( 12795555 )
2003
23
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. ( 11857548 )
2002
24
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. ( 12400062 )
2002
25
Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses. ( 11810649 )
2002
26
Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy. ( 11555456 )
2001
27
Fetal akinesia deformation sequence in a highly developed acardius twin. ( 9354846 )
1997
28
Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). ( 8597848 )
1995
29
Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect. ( 7484094 )
1995
30
Morphological changes in long bone development in fetal akinesia deformation sequence: an experimental study in curarized rat fetuses. ( 1615431 )
1992
31
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. ( 1951430 )
1991
32
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence. ( 1723604 )
1991
33
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage. ( 1891100 )
1991
34
The fetal akinesia deformation sequence. A fetopathological approach. ( 2222918 )
1990
35
Fetal akinesia deformation sequence in previable fetuses. ( 3344777 )
1988
36
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. ( 3278614 )
1988
37
Fetal akinesia deformation sequence: an animal model. ( 6685864 )
1983

Variations for Fetal Akinesia Deformation Sequence

UniProtKB/Swiss-Prot genetic disease variations for Fetal Akinesia Deformation Sequence:

71
id Symbol AA change Variation ID SNP ID
1 MUSK p.Ile575Thr VAR_072787 rs751889864
2 RAPSN p.Phe139Ser VAR_043899 rs121909256
3 RAPSN p.Ala189Val VAR_043902 rs121909257
4 TUBB2B p.Cys239Phe VAR_078187 rs878853284

ClinVar genetic disease variations for Fetal Akinesia Deformation Sequence:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DOK7 DOK7, IVS3DS, G-T, +1 single nucleotide variant Pathogenic
2 RAPSN RAPSN, 2-BP DEL, 1177AA deletion Pathogenic
3 RAPSN NM_005055.4(RAPSN): c.416T> C (p.Phe139Ser) single nucleotide variant Pathogenic rs121909256 GRCh37 Chromosome 11, 47469479: 47469479
4 RAPSN NM_005055.4(RAPSN): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121909257 GRCh37 Chromosome 11, 47464332: 47464332
5 MUSK NM_005592.3(MUSK): c.40dupA (p.Thr14Asnfs) duplication Pathogenic rs863223335 GRCh37 Chromosome 9, 113431224: 113431224
6 MUSK NM_005592.3(MUSK): c.1724T> C (p.Ile575Thr) single nucleotide variant Pathogenic/Likely pathogenic rs751889864 GRCh38 Chromosome 9, 110785664: 110785664

Expression for Fetal Akinesia Deformation Sequence

Search GEO for disease gene expression data for Fetal Akinesia Deformation Sequence.

Pathways for Fetal Akinesia Deformation Sequence

Pathways related to Fetal Akinesia Deformation Sequence according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 CHRNA1 CHRND CHRNG MUSK
2
Show member pathways
12.5 CHRNA1 CHRND CHRNG MUSK
3 10.55 CHRNA1 MUSK RAPSN
4 10.03 CHRNA1 CHRND

GO Terms for Fetal Akinesia Deformation Sequence

Cellular components related to Fetal Akinesia Deformation Sequence according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.73 CHRNA1 CHRND CHRNG DOK7 MUSK RAPSN
2 neuromuscular junction GO:0031594 9.5 CHRNA1 MUSK RAPSN
3 postsynaptic membrane GO:0045211 9.35 CHRNA1 CHRND CHRNG MUSK RAPSN
4 acetylcholine-gated channel complex GO:0005892 9.33 CHRNA1 CHRND CHRNG
5 synapse GO:0045202 9.1 CHRNA1 CHRND CHRNG DOK7 MUSK RAPSN

Biological processes related to Fetal Akinesia Deformation Sequence according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 excitatory postsynaptic potential GO:0060079 9.58 CHRNA1 CHRND CHRNG
2 regulation of membrane potential GO:0042391 9.54 CHRNA1 CHRND
3 cation transport GO:0006812 9.52 CHRNA1 CHRND
4 cation transmembrane transport GO:0098655 9.51 CHRND CHRNG
5 regulation of postsynaptic membrane potential GO:0060078 9.5 CHRNA1 CHRND CHRNG
6 neuromuscular junction development GO:0007528 9.49 CHRNA1 MUSK
7 neuromuscular process GO:0050905 9.48 CHRNA1 CHRND
8 skeletal muscle contraction GO:0003009 9.46 CHRNA1 CHRND
9 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.43 MUSK RAPSN
10 musculoskeletal movement GO:0050881 9.37 CHRNA1 CHRND
11 response to nicotine GO:0035094 9.33 CHRNA1 CHRND CHRNG
12 skeletal muscle tissue growth GO:0048630 9.26 CHRNA1 CHRND
13 neuromuscular synaptic transmission GO:0007274 9.13 CHRNA1 CHRND CHRNG
14 synaptic transmission, cholinergic GO:0007271 8.92 CHRNA1 CHRND CHRNG RAPSN

Molecular functions related to Fetal Akinesia Deformation Sequence according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 9.43 CHRNA1 CHRND CHRNG
2 ligand-gated ion channel activity GO:0015276 9.33 CHRNA1 CHRND CHRNG
3 acetylcholine receptor activity GO:0015464 9.32 CHRNA1 CHRNG
4 acetylcholine binding GO:0042166 9.13 CHRNA1 CHRND CHRNG
5 acetylcholine-gated cation-selective channel activity GO:0022848 8.8 CHRNA1 CHRND CHRNG

Sources for Fetal Akinesia Deformation Sequence

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