MCPH1
MCID: MCR247
MIFTS: 36

Microcephaly 1, Primary, Autosomal Recessive (MCPH1)

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

Aliases & Classifications for Microcephaly 1, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 1, Primary, Autosomal Recessive:

Name: Microcephaly 1, Primary, Autosomal Recessive 57 75 13
Primary Autosomal Recessive Microcephaly 1 12 29 6
Mcph1 57 12 75
Premature Chromosome Condensation with Microcephaly and Mental Retardation 57 75
Premature Chromosome Condensation Syndrome 57 75
Pcc Syndrome 57 75
Microcephaly, Type 1, Primary, Autosomal Recessive 40
Microcephaly, Primary Autosomal Recessive, 1 73
Autosomal Recessive Primary Microcephaly 73
True Microcephaly 75
Microcephaly Vera 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microcephaly 1, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 1, Primary, Autosomal Recessive

OMIM : 57 Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by Woods et al., 2005). Most cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' (Hofman, 1984). MCPH1 in particular is associated with premature chromosome condensation in cell studies (Darvish et al., 2010). (251200)

MalaCards based summary : Microcephaly 1, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 1, is related to microcephaly and primary microcephaly. An important gene associated with Microcephaly 1, Primary, Autosomal Recessive is MCPH1 (Microcephalin 1). Affiliated tissues include brain, cortex and fetal brain, and related phenotypes are agenesis of corpus callosum and intellectual disability

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.

Genetics Home Reference : 25 Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."

UniProtKB/Swiss-Prot : 75 Microcephaly 1, 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. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.

Related Diseases for Microcephaly 1, 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 Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 1, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 microcephaly 11.8
2 primary microcephaly 11.7
3 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.7
4 microcephaly 4, primary, autosomal recessive 11.7
5 microcephaly 5, primary, autosomal recessive 11.7
6 microcephaly 17, primary, autosomal recessive 11.7
7 primary autosomal recessive microcephaly 11.6
8 autosomal recessive non-syndromic intellectual disability 11.4
9 seckel syndrome 11.2
10 microcephaly 3, primary, autosomal recessive 11.1
11 microcephaly 6, primary, autosomal recessive 11.1
12 microcephaly 7, primary, autosomal recessive 11.1
13 microcephaly 11, primary, autosomal recessive 11.1
14 microcephaly 13, primary, autosomal recessive 11.1
15 microcephaly 12, primary, autosomal recessive 11.1
16 microcephaly 18, primary, autosomal dominant 11.1
17 physical disorder 11.1
18 congenital nervous system abnormality 11.1
19 microcephaly 9, primary, autosomal recessive 11.0
20 microcephaly 10, primary, autosomal recessive 11.0
21 breast cancer 10.1
22 leukemia, chronic lymphocytic 2 9.9
23 leukemia, chronic lymphocytic 9.9
24 otitis media 9.9
25 autism 9.9
26 lung cancer 9.9
27 cervical cancer 9.9
28 craniosynostosis 9.9
29 leukemia 9.9
30 oral squamous cell carcinoma 9.9
31 lymphocytic leukemia 9.9
32 squamous cell carcinoma 9.9
33 leukemia, b-cell, chronic 9.9

Graphical network of the top 20 diseases related to Microcephaly 1, Primary, Autosomal Recessive:



Diseases related to Microcephaly 1, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 1, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (in some patients)

Head And Neck Head:
microcephaly (head circumference 3 to 11 s.d. below mean)

Neurologic Central Nervous System:
seizures (rare)
mental retardation, mild to severe
decreased brain weight
disproportionately small cerebral cortex

Laboratory Abnormalities:
premature chromosome condensation


Clinical features from OMIM:

251200

Human phenotypes related to Microcephaly 1, Primary, Autosomal Recessive:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 frequent (33%) HP:0001274
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 hyperreflexia 32 frequent (33%) HP:0001347
5 global developmental delay 32 hallmark (90%) HP:0001263
6 abnormal cortical bone morphology 32 frequent (33%) HP:0003103
7 microcephaly 32 hallmark (90%) HP:0000252
8 short stature 32 occasional (7.5%) HP:0004322
9 intellectual disability, severe 32 hallmark (90%) HP:0010864
10 ventriculomegaly 32 frequent (33%) HP:0002119
11 upslanted palpebral fissure 32 hallmark (90%) HP:0000582
12 vesicoureteral reflux 32 frequent (33%) HP:0000076
13 thin upper lip vermilion 32 hallmark (90%) HP:0000219
14 pachygyria 32 frequent (33%) HP:0001302
15 sloping forehead 32 hallmark (90%) HP:0000340
16 unilateral renal agenesis 32 frequent (33%) HP:0000122
17 heterotopia 32 hallmark (90%) HP:0002282
18 small cerebral cortex 32 HP:0002472
19 hypoplasia of the frontal lobes 32 frequent (33%) HP:0007333
20 increased rate of premature chromosome condensation 32 HP:0003451

Drugs & Therapeutics for Microcephaly 1, Primary, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Microcephaly Genetic Deficiency in Neural Progenitors Completed NCT01565005
2 Enhancing Diagnosis and Prevention of Cardiovascular Disease in Newham by Integrated Use of Electronic Health Records Completed NCT02486913 Not Applicable

Search NIH Clinical Center for Microcephaly 1, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 1, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 1, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 1 29 MCPH1

Anatomical Context for Microcephaly 1, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 1, Primary, Autosomal Recessive:

41
Brain, Cortex, Fetal Brain, Bone, Lung, B Cells

Publications for Microcephaly 1, Primary, Autosomal Recessive

Articles related to Microcephaly 1, Primary, Autosomal Recessive:

(show all 28)
# Title Authors Year
1
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 30556632 )
2019
2
Autosomal recessive primary microcephaly due to ASPM mutations: An update. ( 29243349 )
2018
3
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report. ( 30021525 )
2018
4
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). ( 30086807 )
2018
5
"D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly". ( 28901661 )
2017
6
Autosomal Recessive Primary Microcephaly (MCPH): An Update. ( 28399591 )
2017
7
Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing. ( 27784895 )
2017
8
A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly. ( 27920410 )
2016
9
Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. ( 25899944 )
2015
10
Molecular and cellular basis of autosomal recessive primary microcephaly. ( 25548773 )
2014
11
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. ( 24951542 )
2014
12
Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. ( 24691052 )
2014
13
A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly. ( 24665293 )
2013
14
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. ( 24228726 )
2013
15
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. ( 21857152 )
2011
16
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. ( 21961505 )
2011
17
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. ( 21668957 )
2011
18
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. ( 20949544 )
2010
19
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. ( 19808985 )
2010
20
Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. ( 18636190 )
2008
21
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. ( 17764569 )
2007
22
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly. ( 17849285 )
2007
23
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. ( 16673149 )
2006
24
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. ( 16900296 )
2006
25
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. ( 15806441 )
2005
26
A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. ( 12843329 )
2003
27
Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. ( 12362027 )
2002
28
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. ( 10573015 )
1999

Variations for Microcephaly 1, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 1, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 MCPH1 p.Thr27Arg VAR_046745 rs199422124

ClinVar genetic disease variations for Microcephaly 1, Primary, Autosomal Recessive:

6 (show top 50) (show all 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 MCPH1 NM_024596.4(MCPH1): c.74C> G (p.Ser25Ter) single nucleotide variant Pathogenic rs121434305 GRCh37 Chromosome 8, 6266851: 6266851
2 MCPH1 NM_024596.4(MCPH1): c.74C> G (p.Ser25Ter) single nucleotide variant Pathogenic rs121434305 GRCh38 Chromosome 8, 6409330: 6409330
3 MCPH1 NM_024596.4(MCPH1): c.427dupA (p.Thr143Asnfs) duplication Pathogenic/Likely pathogenic rs199422125 GRCh37 Chromosome 8, 6293674: 6293674
4 MCPH1 NM_024596.4(MCPH1): c.427dupA (p.Thr143Asnfs) duplication Pathogenic/Likely pathogenic rs199422125 GRCh38 Chromosome 8, 6436153: 6436153
5 MCPH1 NC_000008.11: g.(?_6406592)_(6439097_6442066)del deletion Pathogenic GRCh37 Chromosome 8, 6264113: 6299587
6 MCPH1 NC_000008.11: g.(?_6406592)_(6439097_6442066)del deletion Pathogenic GRCh38 Chromosome 8, 6406592: 6442066
7 MCPH1 NM_024596.4(MCPH1): c.2282C> T (p.Ala761Val) single nucleotide variant Benign rs1057090 GRCh37 Chromosome 8, 6479042: 6479042
8 MCPH1 NM_024596.4(MCPH1): c.2282C> T (p.Ala761Val) single nucleotide variant Benign rs1057090 GRCh38 Chromosome 8, 6621521: 6621521
9 MCPH1 NM_024596.4(MCPH1): c.2482C> T (p.Pro828Ser) single nucleotide variant Benign/Likely benign rs1057091 GRCh37 Chromosome 8, 6500544: 6500544
10 MCPH1 NM_024596.4(MCPH1): c.2482C> T (p.Pro828Ser) single nucleotide variant Benign/Likely benign rs1057091 GRCh38 Chromosome 8, 6643023: 6643023
11 MCPH1 NM_024596.4(MCPH1): c.80C> G (p.Thr27Arg) single nucleotide variant Pathogenic rs199422124 GRCh37 Chromosome 8, 6266857: 6266857
12 MCPH1 NM_024596.4(MCPH1): c.80C> G (p.Thr27Arg) single nucleotide variant Pathogenic rs199422124 GRCh38 Chromosome 8, 6409336: 6409336
13 MCPH1 NM_024596.4(MCPH1): c.940G> C (p.Asp314His) single nucleotide variant Benign rs930557 GRCh37 Chromosome 8, 6302183: 6302183
14 MCPH1 NM_024596.4(MCPH1): c.940G> C (p.Asp314His) single nucleotide variant Benign rs930557 GRCh38 Chromosome 8, 6444662: 6444662
15 MCPH1 NM_024596.3: c.566dupA duplication Pathogenic
16 MCPH1 NM_024596.3: c.147C> G single nucleotide variant Pathogenic
17 MCPH1 NM_024596.4(MCPH1): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs387906961 GRCh37 Chromosome 8, 6272386: 6272386
18 MCPH1 NM_024596.4(MCPH1): c.215C> T (p.Ser72Leu) single nucleotide variant Pathogenic rs387906961 GRCh38 Chromosome 8, 6414865: 6414865
19 MCPH1 NM_024596.3: c.302C> G single nucleotide variant Pathogenic
20 MCPH1 NM_024596.4(MCPH1): c.1175A> G (p.Asp392Gly) single nucleotide variant Benign rs2515569 GRCh37 Chromosome 8, 6302418: 6302418
21 MCPH1 NM_024596.4(MCPH1): c.1175A> G (p.Asp392Gly) single nucleotide variant Benign rs2515569 GRCh38 Chromosome 8, 6444897: 6444897
22 MCPH1 NM_024596.4(MCPH1): c.1495G> A (p.Val499Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146586991 GRCh37 Chromosome 8, 6302738: 6302738
23 MCPH1 NM_024596.4(MCPH1): c.1495G> A (p.Val499Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146586991 GRCh38 Chromosome 8, 6445217: 6445217
24 MCPH1 NM_024596.4(MCPH1): c.128T> C (p.Phe43Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587783733 GRCh37 Chromosome 8, 6272299: 6272299
25 MCPH1 NM_024596.4(MCPH1): c.128T> C (p.Phe43Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587783733 GRCh38 Chromosome 8, 6414778: 6414778
26 MCPH1 NM_024596.4(MCPH1): c.228G> T (p.Val76=) single nucleotide variant Benign rs2305022 GRCh37 Chromosome 8, 6272399: 6272399
27 MCPH1 NM_024596.4(MCPH1): c.228G> T (p.Val76=) single nucleotide variant Benign rs2305022 GRCh38 Chromosome 8, 6414878: 6414878
28 MCPH1 NM_024596.4(MCPH1): c.278C> A (p.Ala93Glu) single nucleotide variant Likely pathogenic rs587783741 GRCh37 Chromosome 8, 6289064: 6289064
29 MCPH1 NM_024596.4(MCPH1): c.278C> A (p.Ala93Glu) single nucleotide variant Likely pathogenic rs587783741 GRCh38 Chromosome 8, 6431543: 6431543
30 MCPH1 NM_024596.4(MCPH1): c.305G> C (p.Ser102Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs2290145 GRCh37 Chromosome 8, 6289091: 6289091
31 MCPH1 NM_024596.4(MCPH1): c.305G> C (p.Ser102Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs2290145 GRCh38 Chromosome 8, 6431570: 6431570
32 MCPH1 NM_024596.4(MCPH1): c.433C> G (p.Leu145Val) single nucleotide variant Uncertain significance rs139607465 GRCh37 Chromosome 8, 6293680: 6293680
33 MCPH1 NM_024596.4(MCPH1): c.433C> G (p.Leu145Val) single nucleotide variant Uncertain significance rs139607465 GRCh38 Chromosome 8, 6436159: 6436159
34 MCPH1 NM_024596.4(MCPH1): c.477A> T (p.Ser159=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313948 GRCh37 Chromosome 8, 6296514: 6296514
35 MCPH1 NM_024596.4(MCPH1): c.477A> T (p.Ser159=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313948 GRCh38 Chromosome 8, 6438993: 6438993
36 MCPH1 NM_024596.4(MCPH1): c.614C> T (p.Pro205Leu) single nucleotide variant Uncertain significance rs587783742 GRCh37 Chromosome 8, 6299621: 6299621
37 MCPH1 NM_024596.4(MCPH1): c.614C> T (p.Pro205Leu) single nucleotide variant Uncertain significance rs587783742 GRCh38 Chromosome 8, 6442100: 6442100
38 MCPH1 NM_024596.4(MCPH1): c.867G> A (p.Gln289=) single nucleotide variant Conflicting interpretations of pathogenicity rs201231900 GRCh37 Chromosome 8, 6302110: 6302110
39 MCPH1 NM_024596.4(MCPH1): c.1869_1870delAT (p.Cys624Terfs) deletion Pathogenic rs587783735 GRCh38 Chromosome 8, 6455186: 6455187
40 MCPH1 NM_024596.4(MCPH1): c.867G> A (p.Gln289=) single nucleotide variant Conflicting interpretations of pathogenicity rs201231900 GRCh38 Chromosome 8, 6444589: 6444589
41 MCPH1 NM_024596.4(MCPH1): c.898A> G (p.Ile300Val) single nucleotide variant Uncertain significance rs587783743 GRCh37 Chromosome 8, 6302141: 6302141
42 MCPH1 NM_024596.4(MCPH1): c.898A> G (p.Ile300Val) single nucleotide variant Uncertain significance rs587783743 GRCh38 Chromosome 8, 6444620: 6444620
43 MCPH1 NM_024596.4(MCPH1): c.911G> T (p.Arg304Ile) single nucleotide variant Benign/Likely benign rs2083914 GRCh37 Chromosome 8, 6302154: 6302154
44 MCPH1 NM_024596.4(MCPH1): c.911G> T (p.Arg304Ile) single nucleotide variant Benign/Likely benign rs2083914 GRCh38 Chromosome 8, 6444633: 6444633
45 MCPH1 NM_024596.4(MCPH1): c.1061T> C (p.Val354Ala) single nucleotide variant Uncertain significance rs148526209 GRCh37 Chromosome 8, 6302304: 6302304
46 MCPH1 NM_024596.4(MCPH1): c.1061T> C (p.Val354Ala) single nucleotide variant Uncertain significance rs148526209 GRCh38 Chromosome 8, 6444783: 6444783
47 MCPH1 NM_024596.4(MCPH1): c.1113C> T (p.Cys371=) single nucleotide variant Uncertain significance rs587783732 GRCh37 Chromosome 8, 6302356: 6302356
48 MCPH1 NM_024596.4(MCPH1): c.1113C> T (p.Cys371=) single nucleotide variant Uncertain significance rs587783732 GRCh38 Chromosome 8, 6444835: 6444835
49 MCPH1 NM_024596.4(MCPH1): c.1189G> A (p.Val397Met) single nucleotide variant Uncertain significance rs539491399 GRCh37 Chromosome 8, 6302432: 6302432
50 MCPH1 NM_024596.4(MCPH1): c.1189G> A (p.Val397Met) single nucleotide variant Uncertain significance rs539491399 GRCh38 Chromosome 8, 6444911: 6444911

Expression for Microcephaly 1, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 1, Primary, Autosomal Recessive.

Pathways for Microcephaly 1, Primary, Autosomal Recessive

GO Terms for Microcephaly 1, Primary, Autosomal Recessive

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