AUKS
MCID: AKL001
MIFTS: 38

Au-Kline Syndrome (AUKS)

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

Aliases & Classifications for Au-Kline Syndrome

MalaCards integrated aliases for Au-Kline Syndrome:

Name: Au-Kline Syndrome 57 25 43 58 72 36 29 6
Auks 57 72
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to a Point Mutation 58
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome 58
Syndrome, Au-Kline 39
Okamoto Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide);
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
dysmorphic features are variable
two unrelated boys have been reported (last curated october 2015)


HPO:

31
au-kline syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance There is complete penetrance for aks for loss-of-function variants in hnrnpk. no sex- or age-related differences have been observed. there is insufficient information regarding penetrance of missense variants in hnrnpk.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Au-Kline Syndrome

MedlinePlus Genetics : 43 Au-Kline syndrome is a condition that affects many body systems. Individuals with this condition typically have weak muscle tone (hypotonia), intellectual disability, and delayed development. Speech is delayed in children with Au-Kline syndrome, and some are able to say only one or a few words or are never able to speak. In addition, affected children learn to walk later than usual, and some are never able to walk on their own.Individuals with Au-Kline syndrome can have distinctive facial features, including long openings of the eyelids (long palpebral fissures), drooping eyelids (ptosis), and shallow eye sockets. Other common facial features in this condition include a broad nasal bridge, a mouth with the outer corners turned downward and often held in an open position, and a deep groove down the middle of the tongue. Less common abnormalities include premature joining of certain skull bones (craniosynostosis) in affected infants, an opening or unusually high arch in the roof of the mouth (cleft or high-arched palate), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and missing teeth (oligodontia).Malformations of the heart, blood vessels, kidneys, or bones can also occur in people with Au-Kline syndrome. For example, in some affected individuals, the large blood vessel that distributes blood from the heart to the rest of the body (the aorta) becomes weakened and stretched (aortic dilatation), which can be life-threatening. Some people with Au-Kline syndrome have an abnormal curvature of the spine (scoliosis). In addition, affected individuals may have difficulty feeding or poor vision.Au-Kline syndrome can sometimes affect the autonomic nervous system, which controls involuntary body functions, such as digestion and regulation of body temperature. In people with Au-Kline syndrome, abnormalities in this system can lead to digestive problems, difficulty feeling pain, abnormal sweating, and an inability to adjust to high heat in people with Au-Kline syndrome.

MalaCards based summary : Au-Kline Syndrome, also known as auks, is related to neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion and hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation. An important gene associated with Au-Kline Syndrome is HNRNPK (Heterogeneous Nuclear Ribonucleoprotein K). Affiliated tissues include tongue, heart and eye, and related phenotypes are intellectual disability and coarse facial features

KEGG : 36 Au-Kline syndrome is a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). Patients present with intellectual disability, facial dysmorphism and skeletal/connective tissue abnormalities. Facial dysmorphism and multiple congenital anomalies overlap with Kabuki syndrome.

UniProtKB/Swiss-Prot : 72 Au-Kline syndrome: A disorder characterized by intellectual disability, facial dysmorphism, cardiac defects, and connective tissue and skeletal abnormalities. Dysmorphic features include long palpebral fissures, ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open downturned mouth, ears with underdeveloped and thick helices, high palate, and a unique tongue with a prominent median crease. Hypotonia, hyporeflexia, and high pain tolerance are additional features.

More information from OMIM: 616580
GeneReviews: NBK540283

Related Diseases for Au-Kline Syndrome

Graphical network of the top 20 diseases related to Au-Kline Syndrome:



Diseases related to Au-Kline Syndrome

Symptoms & Phenotypes for Au-Kline Syndrome

Human phenotypes related to Au-Kline Syndrome:

58 31 (show top 50) (show all 130)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000280
3 abnormality of the helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0011039
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000431
5 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
6 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
7 hydronephrosis 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000126
8 long face 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000276
9 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000637
10 poor speech 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002465
11 hypotonia 31 hallmark (90%) HP:0001252
12 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
13 scoliosis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002650
14 ptosis 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000508
15 constipation 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002019
16 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
17 macroglossia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000158
18 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
19 hip dysplasia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001385
20 dental malocclusion 58 31 frequent (33%) Frequent (79-30%) HP:0000689
21 microcephaly 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000252
22 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
23 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
24 cryptorchidism 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000028
25 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
26 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
27 inverted nipples 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0003186
28 open mouth 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000194
29 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002714
30 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000076
31 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
32 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
33 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001629
34 vertebral segmentation defect 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0003422
35 increased nuchal translucency 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0010880
36 craniosynostosis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001363
37 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000430
38 furrowed tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000221
39 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0005487
40 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002079
41 gray matter heterotopia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002282
42 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
43 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
44 gastrointestinal dysmotility 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002579
45 bruxism 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0003763
46 shallow orbits 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000586
47 exaggerated median tongue furrow 58 31 frequent (33%) Frequent (79-30%) HP:0002711
48 abnormal autonomic nervous system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0012332
49 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
50 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
poor speech
delayed psychomotor development
high pain tolerance
nodular heterotopia (in 1 patient)

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
sparse lateral eyebrows
long palpebral fissures

Skeletal Pelvis:
hip dysplasia

Genitourinary External Genitalia Male:
cryptorchidism

Chest Breasts:
inverted nipples
widely spaced nipples

Head And Neck Face:
long face

Skeletal Skull:
craniosynostosis
ridged metopic suture

Head And Neck Teeth:
oligodontia

Head And Neck Nose:
wide nasal ridge
hypoplastic nasal alae
dimple at the nasal tip

Cardiovascular Heart:
aortic root dilation
cardiac malformations

Head And Neck Ears:
underdeveloped ears

Skeletal Spine:
scoliosis
vertebral segmentation defects

Abdomen Gastrointestinal:
constipation
feeding difficulties

Head And Neck Mouth:
cleft palate
open mouth
high-arched palate
downturned mouth
midline crease of tongue

Chest External Features:
pectus excavatum

Head And Neck Head:
dolichocephaly

Skin Nails Hair Skin:
sacral dimple
deep palmar and plantar creases

Skeletal Feet:
deep plantar creases
overlapping toes

Skeletal Hands:
postaxial polydactyly
deep palmar creases

Muscle Soft Tissue:
hypotonia

Head And Neck Neck:
excess nuchal skin

Clinical features from OMIM®:

616580 (Updated 20-May-2021)

Drugs & Therapeutics for Au-Kline Syndrome

Search Clinical Trials , NIH Clinical Center for Au-Kline Syndrome

Genetic Tests for Au-Kline Syndrome

Genetic tests related to Au-Kline Syndrome:

# Genetic test Affiliating Genes
1 Au-Kline Syndrome 29 HNRNPK

Anatomical Context for Au-Kline Syndrome

MalaCards organs/tissues related to Au-Kline Syndrome:

40
Tongue, Heart, Eye

Publications for Au-Kline Syndrome

Articles related to Au-Kline Syndrome:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. 61 25 6 57
29904177 2018
2
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. 6 25 57
28771707 2017
3
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 25 6 57
26954065 2016
4
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. 25 57 6
26173930 2015
5
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 6 25
28374925 2018
6
Timing, rates and spectra of human germline mutation. 25
26656846 2016
7
hnRNP K Is a Haploinsufficient Tumor Suppressor that Regulates Proliferation and Differentiation Programs in Hematologic Malignancies. 25
26412324 2015
8
Deletions of 9q21.3 including NTRK2 are associated with severe phenotype. 25
25348648 2015
9
Emerging roles of heterogeneous nuclear ribonucleoprotein K (hnRNP K) in cancer progression. 25
25016060 2014
10
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. 25
24501764 2014
11
Characterization of multiple alternative forms of heterogeneous nuclear ribonucleoprotein K by phosphate-affinity electrophoresis. 25
20960454 2010
12
Prognosis for mental function in Apert's syndrome. 25
8683284 1996
13
Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities. 61
32588992 2020
14
The common murre (Uria aalge), an auk seabird, reacts to underwater sound. 61
32611143 2020
15
Flexibility of little auks foraging in various oceanographic features in a changing Arctic. 61
32427941 2020
16
The emerging roles of hnRNPK. 61
31538344 2020
17
Protein Deimination and Extracellular Vesicle Profiles in Antarctic Seabirds. 61
31936359 2020
18
Demographic reconstruction from ancient DNA supports rapid extinction of the great auk. 61
31767056 2019
19
Climate change could overturn bird migration: Transarctic flights and high-latitude residency in a sea ice free Arctic. 61
31780706 2019
20
Using blood and feathers to investigate large-scale Hg contamination in Arctic seabirds: A review. 61
31382127 2019
21
Wind prevents cliff-breeding birds from accessing nests through loss of flight control. 61
31188128 2019
22
Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation. 61
30793470 2019
23
Au-Kline Syndrome 61
30998304 2019
24
Bird population changes reconstructed from isotopic signals of peat developed in a nutrient enriched tundra. 61
30235621 2019
25
Arctic climate change and pollution impact little auk foraging and fitness across a decade. 61
30705325 2019
26
Parasites of seabirds: A survey of effects and ecological implications. 61
31229148 2019
27
Almost like a whale - first evidence of suction feeding in a seabird. 61
29844199 2018
28
On the crucial importance of a small bird: The ecosystem services of the little auk (Alle alle) population in Northwest Greenland in a long-term perspective. 61
29516440 2018
29
Energyscapes and prey fields shape a North Atlantic seabird wintering hotspot under climate change. 61
29410875 2018
30
Warming of Subarctic waters accelerates development of a key marine zooplankton Calanus finmarchicus. 61
28801968 2018
31
Habitat foraging niche of a High Arctic zooplanktivorous seabird in a changing environment. 61
29176574 2017
32
Long necks enhance and constrain foraging capacity in aquatic vertebrates. 61
29142117 2017
33
Sea ice phenology and primary productivity pulses shape breeding success in Arctic seabirds. 61
28674385 2017
34
An ‛Aukward' Tale: A Genetic Approach to Discover the Whereabouts of the Last Great Auks. 61
28617333 2017
35
Microplastic pollution in the Greenland Sea: Background levels and selective contamination of planktivorous diving seabirds. 61
27616650 2016
36
Physiological constraints and dive behavior scale in tandem with body mass in auks: A comparative analysis. 61
26952335 2016
37
Does temporal variation of mercury levels in Arctic seabirds reflect changes in global environmental contamination, or a modification of Arctic marine food web functioning? 61
26798998 2016
38
Where to Forage in the Absence of Sea Ice? Bathymetry As a Key Factor for an Arctic Seabird. 61
27438790 2016
39
Importance of Marine-Derived Nutrients Supplied by Planktivorous Seabirds to High Arctic Tundra Plant Communities. 61
27149113 2016
40
Predictive Modelling to Identify Near-Shore, Fine-Scale Seabird Distributions during the Breeding Season. 61
27031616 2016
41
Trace element concentrations in harvested auks from Newfoundland: Toxicological risk of a traditional hunt. 61
25666730 2015
42
Arctic warming: nonlinear impacts of sea-ice and glacier melt on seabird foraging. 61
25639886 2015
43
Effect of diet, location and sampling year on bioaccumulation of mercury, selenium and cadmium in pelagic feeding seabirds in Svalbard. 61
25441931 2015
44
Supplementary diet components of little auk chicks in two contrasting regions on the West Spitsbergen coast. 61
26069395 2015
45
Chick Begging Calls Reflect Degree of Hunger in Three Auk Species (Charadriiformes: Alcidae). 61
26536362 2015
46
Spatial ecotoxicology: migratory Arctic seabirds are exposed to mercury contamination while overwintering in the northwest Atlantic. 61
25171766 2014
47
Climate warming decreases the survival of the little auk (Alle alle), a high Arctic avian predator. 61
25247069 2014
48
Enterobacter cloacae with a novel variant of ACT AmpC beta-lactamase originating from glaucous gull (Larus hyperboreus) in Svalbard. 61
24629772 2014
49
Osteological histology of the Pan-Alcidae (Aves, Charadriiformes): correlates of wing-propelled diving and flightlessness. 61
24357466 2014
50
Ingestion of plastic marine debris by Common and Thick-billed Murres in the northwestern Atlantic from 1985 to 2012. 61
24269010 2013

Variations for Au-Kline Syndrome

ClinVar genetic disease variations for Au-Kline Syndrome:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNRNPK NM_002140.4(HNRNPK):c.953+1dupG Duplication Pathogenic 212775 rs863223402 GRCh37: 9:86586795-86586796
GRCh38: 9:83971880-83971881
2 HNRNPK NM_002140.4(HNRNPK):c.1009delG Deletion Pathogenic 503602 rs1554698470 GRCh37: 9:86586271-86586271
GRCh38: 9:83971356-83971356
3 HNRNPK NM_002140.4(HNRNPK):c.1094delG Deletion Pathogenic 503604 rs1554698213 GRCh37: 9:86585826-86585826
GRCh38: 9:83970911-83970911
4 HNRNPK NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter) SNV Pathogenic 503603 rs1554698878 GRCh37: 9:86586891-86586891
GRCh38: 9:83971976-83971976
5 HNRNPK NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) SNV Pathogenic 625163 rs1564063967 GRCh37: 9:86588253-86588253
GRCh38: 9:83973338-83973338
6 HNRNPK NM_031263.4(HNRNPK):c.1192-14_1192-2del Deletion Pathogenic 931166 GRCh37: 9:86585248-86585260
GRCh38: 9:83970333-83970345
7 HNRNPK NM_031263.4(HNRNPK):c.1008+1G>A SNV Pathogenic 449308 rs1554698658 GRCh37: 9:86586586-86586586
GRCh38: 9:83971671-83971671
8 HNRNPK NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His) SNV Pathogenic 818201 rs1588417800 GRCh37: 9:86587077-86587077
GRCh38: 9:83972162-83972162
9 HNRNPK NM_031263.4(HNRNPK):c.573_574del (p.Arg191fs) Microsatellite Pathogenic 1029561 GRCh37: 9:86587830-86587831
GRCh38: 9:83972915-83972916
10 HNRNPK NM_031263.4(HNRNPK):c.931_932insTT (p.Pro311fs) Insertion Pathogenic 221225 rs879255263 GRCh37: 9:86586818-86586819
GRCh38: 9:83971903-83971904
11 HNRNPK NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) Duplication Pathogenic 503601 rs1554698681 GRCh37: 9:86586596-86586597
GRCh38: 9:83971681-83971682
12 HNRNPK NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer) Duplication Pathogenic 280639 rs886041807 GRCh37: 9:86586970-86586971
GRCh38: 9:83972055-83972056
13 HNRNPK NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) SNV Pathogenic/Likely pathogenic 212776 rs863223403 GRCh37: 9:86590377-86590377
GRCh38: 9:83975462-83975462
14 HNRNPK NM_031263.4(HNRNPK):c.645+1G>T SNV Likely pathogenic 1029562 GRCh37: 9:86587758-86587758
GRCh38: 9:83972843-83972843
15 HNRNPK NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg) SNV Likely pathogenic 804254 rs1588432187 GRCh37: 9:86591920-86591920
GRCh38: 9:83977005-83977005
16 HNRNPK NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) SNV Likely pathogenic 452520 rs1554700678 GRCh37: 9:86590381-86590381
GRCh38: 9:83975466-83975466
17 HNRNPK NM_031263.4(HNRNPK):c.214-35A>G SNV Likely pathogenic 522798 rs1554700718 GRCh37: 9:86590455-86590455
GRCh38: 9:83975540-83975540
18 HNRNPK NM_031263.4(HNRNPK):c.646-1G>A SNV Likely pathogenic 623650 rs1564062144 GRCh37: 9:86587105-86587105
GRCh38: 9:83972190-83972190
19 HNRNPK NM_031263.4(HNRNPK):c.140_143delinsATCA (p.Ile47_Leu48delinsAsnGln) Indel Likely pathogenic 666583 rs1588434457 GRCh37: 9:86592617-86592620
GRCh38: 9:83977702-83977705
20 HNRNPK NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp) SNV Likely pathogenic 689628 rs1588412390 GRCh37: 9:86585720-86585720
GRCh38: 9:83970805-83970805
21 HNRNPK NM_031263.4(HNRNPK):c.560A>G (p.His187Arg) SNV Uncertain significance 805755 rs1588420417 GRCh37: 9:86587844-86587844
GRCh38: 9:83972929-83972929
22 HNRNPK NM_031263.4(HNRNPK):c.1093-4T>G SNV Uncertain significance 1029560 GRCh37: 9:86585831-86585831
GRCh38: 9:83970916-83970916

Expression for Au-Kline Syndrome

Search GEO for disease gene expression data for Au-Kline Syndrome.

Pathways for Au-Kline Syndrome

GO Terms for Au-Kline Syndrome

Sources for Au-Kline Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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