MCPH3
MCID: MCR248
MIFTS: 40

Microcephaly 3, Primary, Autosomal Recessive (MCPH3)

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

Aliases & Classifications for Microcephaly 3, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 3, Primary, Autosomal Recessive:

Name: Microcephaly 3, Primary, Autosomal Recessive 58 76 13
Primary Autosomal Recessive Microcephaly 3 12 30 6 15
Mcph3 58 12 76
Microcephaly, Primary Autosomal Recessive, 3 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
microcephaly 3, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070286
OMIM 58 604804
MeSH 45 D008831
MedGen 43 C1858108
UMLS 74 C1858108

Summaries for Microcephaly 3, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Microcephaly 3, primary, autosomal recessive: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.

MalaCards based summary : Microcephaly 3, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 3, is related to microcephaly and primary microcephaly. An important gene associated with Microcephaly 3, Primary, Autosomal Recessive is CDK5RAP2 (CDK5 Regulatory Subunit Associated Protein 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Affiliated tissues include cortex, brain and eye, and related phenotypes are sensorineural hearing impairment and proptosis

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33.

Description from OMIM: 604804

Related Diseases for Microcephaly 3, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant
Microcephaly 19, Primary, Autosomal Recessive Microcephaly 20, Primary, Autosomal Recessive
Microcephaly 21, Primary, Autosomal Recessive Microcephaly 22, Primary, Autosomal Recessive
Microcephaly 23, Primary, Autosomal Recessive Microcephaly 24, Primary, Autosomal Recessive
Microcephaly 25, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 3, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 microcephaly 29.6 CDK5RAP2 CENPJ CEP152 MCPH1 PNKP
2 primary microcephaly 29.5 CDK5RAP2 CENPJ CEP152 MCPH1 PNKP
3 seckel syndrome 5 10.0 CENPJ CEP152
4 seckel syndrome 1 9.9 CENPJ CEP152
5 seckel syndrome 2 9.9 CENPJ CEP152
6 seckel syndrome 4 9.8 CENPJ CNTLN
7 physical disorder 9.8 CDK5RAP2 CENPJ MCPH1
8 microcephalic osteodysplastic primordial dwarfism, type ii 9.7 CDK5RAP2 CENPJ CNTLN
9 corneal dystrophy, meesmann 9.7 CEP152 CNTLN
10 microcephaly 12, primary, autosomal recessive 9.7 CDK5RAP2 CENPJ CEP152 MCPH1
11 primary autosomal recessive microcephaly 9.6 CDK5RAP2 CENPJ CEP152 MCPH1
12 microcephaly 18, primary, autosomal dominant 9.6 CDK5RAP2 CENPJ CEP152 MCPH1
13 congenital nervous system abnormality 9.6 CDK5RAP2 CENPJ CEP152 MCPH1
14 seckel syndrome 9.5 CENPJ CEP152 CNTLN MCPH1
15 microcephaly 6, primary, autosomal recessive 9.3 CDK5RAP2 CENPJ CEP152 CNTLN MCPH1
16 microcephaly 4, primary, autosomal recessive 9.3 CDK5RAP2 CENPJ CEP152 CNTLN MCPH1
17 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.3 CDK5RAP2 CENPJ CEP152 CNTLN MCPH1
18 microcephaly 5, primary, autosomal recessive 9.3 CDK5RAP2 CENPJ CEP152 CNTLN MCPH1
19 microcephaly 7, primary, autosomal recessive 9.3 CDK5RAP2 CENPJ CEP152 CNTLN MCPH1
20 microcephaly 17, primary, autosomal recessive 8.9 CDK5 CDK5RAP2 CENPJ CEP152 MCPH1 PNKP

Graphical network of the top 20 diseases related to Microcephaly 3, Primary, Autosomal Recessive:



Diseases related to Microcephaly 3, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 3, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 3, Primary, Autosomal Recessive:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
2 proptosis 33 occasional (7.5%) HP:0000520
3 simplified gyral pattern 33 occasional (7.5%) HP:0009879
4 global developmental delay 33 HP:0001263
5 microcephaly 33 HP:0000252
6 intellectual disability, moderate 33 HP:0002342
7 sloping forehead 33 HP:0000340
8 small cerebral cortex 33 HP:0002472

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
sloping forehead
microcephaly, severe (-4 to -8 sds)

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Head And Neck Teeth:
conical-shaped teeth (in one patient)

Neurologic Central Nervous System:
developmental delay
mental retardation, mild to moderate
small but structurally normal cerebral cortex
simplified gyral pattern (in one patient)
small frontal lobes (in one patient)
more
Head And Neck Eyes:
prominent eyes (in one patient)

Clinical features from OMIM:

604804

GenomeRNAi Phenotypes related to Microcephaly 3, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 8.62 CDK5 PNKP

MGI Mouse Phenotypes related to Microcephaly 3, Primary, Autosomal Recessive:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.43 BIRC5 CDK5RAP2 CENPJ CEP152 MCPH1 PNKP
2 nervous system MP:0003631 9.1 CDK5 CDK5RAP2 CENPJ CEP152 MCPH1 PNKP

Drugs & Therapeutics for Microcephaly 3, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 3, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 3, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 3, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 3 30 CDK5RAP2

Anatomical Context for Microcephaly 3, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 3, Primary, Autosomal Recessive:

42
Cortex, Brain, Eye

Publications for Microcephaly 3, Primary, Autosomal Recessive

Articles related to Microcephaly 3, Primary, Autosomal Recessive:

# Title Authors Year
1
Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities. ( 27761245 )
2016
2
The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. ( 23726037 )
2014
3
Cerebral organoids model human brain development and microcephaly. ( 23995685 )
2013
4
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. ( 22887808 )
2012
5
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. ( 17764569 )
2007
6
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. ( 15793586 )
2005
7
A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. ( 10677332 )
2000

Variations for Microcephaly 3, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 3, Primary, Autosomal Recessive:

6 (show top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDK5RAP2 NM_018249.5(CDK5RAP2): c.246T> A (p.Tyr82Ter) single nucleotide variant Pathogenic rs199422126 GRCh37 Chromosome 9, 123313130: 123313130
2 CDK5RAP2 NM_018249.5(CDK5RAP2): c.246T> A (p.Tyr82Ter) single nucleotide variant Pathogenic rs199422126 GRCh38 Chromosome 9, 120550852: 120550852
3 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4005-15A> G single nucleotide variant Pathogenic rs387906274 GRCh37 Chromosome 9, 123182253: 123182253
4 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4005-15A> G single nucleotide variant Pathogenic rs387906274 GRCh38 Chromosome 9, 120419975: 120419975
5 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1712T> C (p.Leu571Pro) single nucleotide variant Benign rs41296081 GRCh37 Chromosome 9, 123239643: 123239643
6 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1712T> C (p.Leu571Pro) single nucleotide variant Benign rs41296081 GRCh38 Chromosome 9, 120477365: 120477365
7 CDK5RAP2 NM_018249.5(CDK5RAP2): c.2599G> A (p.Gly867Arg) single nucleotide variant Benign rs10984919 GRCh37 Chromosome 9, 123215928: 123215928
8 CDK5RAP2 NM_018249.5(CDK5RAP2): c.2599G> A (p.Gly867Arg) single nucleotide variant Benign rs10984919 GRCh38 Chromosome 9, 120453650: 120453650
9 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3065G> A (p.Gly1022Glu) single nucleotide variant Benign rs34523498 GRCh37 Chromosome 9, 123205981: 123205981
10 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3065G> A (p.Gly1022Glu) single nucleotide variant Benign rs34523498 GRCh38 Chromosome 9, 120443703: 120443703
11 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3134G> C (p.Arg1045Thr) single nucleotide variant Benign/Likely benign rs3780679 GRCh37 Chromosome 9, 123205912: 123205912
12 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3134G> C (p.Arg1045Thr) single nucleotide variant Benign/Likely benign rs3780679 GRCh38 Chromosome 9, 120443634: 120443634
13 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3989A> T (p.Asn1330Ile) single nucleotide variant Benign rs7875294 GRCh37 Chromosome 9, 123184986: 123184986
14 CDK5RAP2 NM_018249.5(CDK5RAP2): c.3989A> T (p.Asn1330Ile) single nucleotide variant Benign rs7875294 GRCh38 Chromosome 9, 120422708: 120422708
15 CDK5RAP2 NM_018249.5(CDK5RAP2): c.409G> T (p.Ala137Ser) single nucleotide variant Benign rs41302645 GRCh37 Chromosome 9, 123301417: 123301417
16 CDK5RAP2 NM_018249.5(CDK5RAP2): c.409G> T (p.Ala137Ser) single nucleotide variant Benign rs41302645 GRCh38 Chromosome 9, 120539139: 120539139
17 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4103C> T (p.Ser1368Phe) single nucleotide variant Benign rs41309342 GRCh37 Chromosome 9, 123182140: 123182140
18 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4103C> T (p.Ser1368Phe) single nucleotide variant Benign rs41309342 GRCh38 Chromosome 9, 120419862: 120419862
19 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4547A> G (p.Glu1516Gly) single nucleotide variant Benign rs3210500 GRCh37 Chromosome 9, 123171462: 123171462
20 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4547A> G (p.Glu1516Gly) single nucleotide variant Benign rs3210500 GRCh38 Chromosome 9, 120409184: 120409184
21 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4618G> C (p.Val1540Leu) single nucleotide variant Benign rs4837768 GRCh37 Chromosome 9, 123170733: 123170733
22 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4618G> C (p.Val1540Leu) single nucleotide variant Benign rs4837768 GRCh38 Chromosome 9, 120408455: 120408455
23 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4665G> T (p.Gln1555His) single nucleotide variant Benign/Likely benign rs35909061 GRCh37 Chromosome 9, 123170686: 123170686
24 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4665G> T (p.Gln1555His) single nucleotide variant Benign/Likely benign rs35909061 GRCh38 Chromosome 9, 120408408: 120408408
25 CDK5RAP2 NM_018249.5(CDK5RAP2): c.546T> G (p.Phe182Leu) single nucleotide variant Benign rs13287599 GRCh37 Chromosome 9, 123298766: 123298766
26 CDK5RAP2 NM_018249.5(CDK5RAP2): c.546T> G (p.Phe182Leu) single nucleotide variant Benign rs13287599 GRCh38 Chromosome 9, 120536488: 120536488
27 CDK5RAP2 NM_018249.5(CDK5RAP2): c.547G> C (p.Ala183Pro) single nucleotide variant Uncertain significance rs13287734 GRCh37 Chromosome 9, 123298765: 123298765
28 CDK5RAP2 NM_018249.5(CDK5RAP2): c.547G> C (p.Ala183Pro) single nucleotide variant Uncertain significance rs13287734 GRCh38 Chromosome 9, 120536487: 120536487
29 CDK5RAP2 NM_018249.5(CDK5RAP2): c.569C> T (p.Ala190Val) single nucleotide variant Benign rs13287876 GRCh37 Chromosome 9, 123298743: 123298743
30 CDK5RAP2 NM_018249.5(CDK5RAP2): c.569C> T (p.Ala190Val) single nucleotide variant Benign rs13287876 GRCh38 Chromosome 9, 120536465: 120536465
31 CDK5RAP2 NM_018249.5(CDK5RAP2): c.764C> T (p.Ser255Leu) single nucleotide variant Uncertain significance rs35199933 GRCh37 Chromosome 9, 123292317: 123292317
32 CDK5RAP2 NM_018249.5(CDK5RAP2): c.764C> T (p.Ser255Leu) single nucleotide variant Uncertain significance rs35199933 GRCh38 Chromosome 9, 120530039: 120530039
33 CDK5RAP2 NM_018249.5(CDK5RAP2): c.865G> C (p.Glu289Gln) single nucleotide variant Benign rs4836822 GRCh37 Chromosome 9, 123291036: 123291036
34 CDK5RAP2 NM_018249.5(CDK5RAP2): c.865G> C (p.Glu289Gln) single nucleotide variant Benign rs4836822 GRCh38 Chromosome 9, 120528758: 120528758
35 CDK5RAP2 NM_018249.5(CDK5RAP2): c.91G> A (p.Asp31Asn) single nucleotide variant Benign rs58961732 GRCh37 Chromosome 9, 123334288: 123334288
36 CDK5RAP2 NM_018249.5(CDK5RAP2): c.91G> A (p.Asp31Asn) single nucleotide variant Benign rs58961732 GRCh38 Chromosome 9, 120572010: 120572010
37 CDK5RAP2 NM_018249.5(CDK5RAP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs398122971 GRCh37 Chromosome 9, 123292381: 123292381
38 CDK5RAP2 NM_018249.5(CDK5RAP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs398122971 GRCh38 Chromosome 9, 120530103: 120530103
39 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4546G> T (p.Glu1516Ter) single nucleotide variant Pathogenic rs374351172 GRCh37 Chromosome 9, 123171463: 123171463
40 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4546G> T (p.Glu1516Ter) single nucleotide variant Pathogenic rs374351172 GRCh38 Chromosome 9, 120409185: 120409185
41 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4672C> T (p.Arg1558Ter) single nucleotide variant Pathogenic rs373278668 GRCh37 Chromosome 9, 123170679: 123170679
42 CDK5RAP2 NM_018249.5(CDK5RAP2): c.4672C> T (p.Arg1558Ter) single nucleotide variant Pathogenic rs373278668 GRCh38 Chromosome 9, 120408401: 120408401
43 CDK5RAP2 NM_018249.5(CDK5RAP2): c.-19T> C single nucleotide variant Benign rs932974 GRCh37 Chromosome 9, 123342275: 123342275
44 CDK5RAP2 NM_018249.5(CDK5RAP2): c.-19T> C single nucleotide variant Benign rs932974 GRCh38 Chromosome 9, 120579997: 120579997
45 CDK5RAP2 NM_018249.5(CDK5RAP2): c.-3G> T single nucleotide variant Benign rs932975 GRCh37 Chromosome 9, 123342259: 123342259
46 CDK5RAP2 NM_018249.5(CDK5RAP2): c.-3G> T single nucleotide variant Benign rs932975 GRCh38 Chromosome 9, 120579981: 120579981
47 CDK5RAP2 NM_018249.5(CDK5RAP2): c.524_528delAGGCA (p.Gln175Argfs) deletion Pathogenic rs587783393 GRCh37 Chromosome 9, 123298784: 123298788
48 CDK5RAP2 NM_018249.5(CDK5RAP2): c.524_528delAGGCA (p.Gln175Argfs) deletion Pathogenic rs587783393 GRCh38 Chromosome 9, 120536506: 120536510
49 CDK5RAP2 NM_018249.5(CDK5RAP2): c.2274T> C (p.Asp758=) single nucleotide variant Benign/Likely benign rs2501727 GRCh37 Chromosome 9, 123220829: 123220829
50 CDK5RAP2 NM_018249.5(CDK5RAP2): c.2274T> C (p.Asp758=) single nucleotide variant Benign/Likely benign rs2501727 GRCh38 Chromosome 9, 120458551: 120458551

Expression for Microcephaly 3, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 3, Primary, Autosomal Recessive.

Pathways for Microcephaly 3, Primary, Autosomal Recessive

Pathways related to Microcephaly 3, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 BIRC5 CDK5RAP2 CENPJ CEP152 MCPH1
2
Show member pathways
12.06 CDK5RAP2 CENPJ CEP152
3 11.6 CDK5 MCPH1 PNKP

GO Terms for Microcephaly 3, Primary, Autosomal Recessive

Cellular components related to Microcephaly 3, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.98 BIRC5 CDK5 CDK5RAP2 CENPJ CEP152 CNTLN
2 nucleoplasm GO:0005654 9.7 BIRC5 CDK5 CENPJ CEP152 CNTLN MCPH1
3 centrosome GO:0005813 9.67 CDK5RAP2 CENPJ CEP152 CNTLN
4 microtubule organizing center GO:0005815 9.56 CDK5RAP2 CENPJ CEP152 MCPH1
5 centriole GO:0005814 9.5 CENPJ CEP152 CNTLN
6 pericentriolar material GO:0000242 9.4 CDK5RAP2 CEP152
7 microtubule GO:0005874 9.26 BIRC5 CDK5 CDK5RAP2 CENPJ
8 cytoskeleton GO:0005856 9.17 BIRC5 CDK5 CDK5RAP2 CENPJ CEP152 CNTLN

Biological processes related to Microcephaly 3, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.58 BIRC5 CDK5 CENPJ
2 microtubule cytoskeleton organization GO:0000226 9.48 CDK5 CDK5RAP2
3 chromosome segregation GO:0007059 9.46 BIRC5 CDK5RAP2
4 cerebral cortex development GO:0021987 9.43 CDK5 MCPH1
5 G2/M transition of mitotic cell cycle GO:0000086 9.43 CDK5RAP2 CENPJ CEP152
6 establishment of mitotic spindle orientation GO:0000132 9.37 CDK5RAP2 MCPH1
7 ciliary basal body-plasma membrane docking GO:0097711 9.33 CDK5RAP2 CENPJ CEP152
8 centrosome duplication GO:0051298 9.32 CENPJ CEP152
9 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.13 CDK5RAP2 CENPJ CEP152
10 centriole replication GO:0007099 8.8 CDK5RAP2 CENPJ CEP152

Molecular functions related to Microcephaly 3, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 9.16 CDK5RAP2 CENPJ
2 microtubule binding GO:0008017 9.13 BIRC5 CDK5 CDK5RAP2
3 protein kinase binding GO:0019901 9.02 CDK5 CDK5RAP2 CENPJ CEP152 CNTLN

Sources for Microcephaly 3, Primary, Autosomal Recessive

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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