ENS-MECP2
MCID: ENC054
MIFTS: 35

Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations (ENS-MECP2)

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

Aliases & Classifications for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

MalaCards integrated aliases for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

Name: Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 57 72 44
Severe Neonatal-Onset Encephalopathy with Microcephaly 12 58 29 6
Severe Congenital Encephalopathy Due to Mecp2 Mutation 12 58 15
Encephalopathy, Neonatal Severe 57 13
Neonatal Severe Encephalopathy Due to Mecp2 Mutations 12
Encephalopathy, Neonatal, Severe 39
Ens-Mecp2 72

Characteristics:

Orphanet epidemiological data:

58
severe neonatal-onset encephalopathy with microcephaly
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset at birth
death usually within first 2 years of life
mecp2 mutations are those found in females with rett syndrome

Inheritance:
x-linked recessive


HPO:

31
encephalopathy, neonatal severe, due to mecp2 mutations:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

OMIM® : 57 The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Since then, additional reports have confirmed a severe phenotype in males with RTT-associated MECP2 mutations (Moog et al., 2003; Villard, 2007). Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes: see also nonspecific X-linked mental retardation, X-linked mental retardation with spasticity (300055), and X-linked mental retardation due to increased dosage of the MECP2 gene (300260). (300673) (Updated 20-May-2021)

MalaCards based summary : Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations, also known as severe neonatal-onset encephalopathy with microcephaly, is related to encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities and mecp2-related severe neonatal encephalopathy, and has symptoms including seizures, myoclonus and apnea. An important gene associated with Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include brain and bone, and related phenotypes are hyperreflexia and failure to thrive

Disease Ontology : 12 A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has material basis in hemizygous mutation in MECP2 on chromosome Xq28.

UniProtKB/Swiss-Prot : 72 Encephalopathy, neonatal severe, due to MECP2 mutations: A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements.

Related Diseases for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Diseases in the Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations family:

Mecp2-Related Severe Neonatal Encephalopathy

Diseases related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 11.7
2 mecp2-related severe neonatal encephalopathy 11.6

Symptoms & Phenotypes for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Human phenotypes related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 failure to thrive 31 HP:0001508
3 eeg abnormality 31 HP:0002353
4 respiratory insufficiency 31 HP:0002093
5 global developmental delay 31 HP:0001263
6 gastroesophageal reflux 31 HP:0002020
7 feeding difficulties in infancy 31 HP:0008872
8 intellectual disability, severe 31 HP:0010864
9 myoclonus 31 HP:0001336
10 intellectual disability, progressive 31 HP:0006887
11 apnea 31 HP:0002104
12 polymicrogyria 31 HP:0002126
13 encephalopathy 31 HP:0001298
14 rigidity 31 HP:0002063
15 muscular hypotonia of the trunk 31 HP:0008936
16 central hypoventilation 31 HP:0007110
17 progressive microcephaly 31 HP:0000253
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
myoclonus
limb rigidity
developmental delay, severe
more
Respiratory:
respiratory insufficiency
apnea
central hypoventilation

Head And Neck Head:
microcephaly, progressive

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Neurologic Behavioral Psychiatric Manifestations:
stereotypical movements

Clinical features from OMIM®:

300673 (Updated 20-May-2021)

UMLS symptoms related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:


seizures; myoclonus; apnea; limb rigidity

Drugs & Therapeutics for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Search Clinical Trials , NIH Clinical Center for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Cochrane evidence based reviews: encephalopathy, neonatal severe, due to mecp2 mutations

Genetic Tests for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Genetic tests related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

# Genetic test Affiliating Genes
1 Severe Neonatal-Onset Encephalopathy with Microcephaly 29 MECP2

Anatomical Context for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

MalaCards organs/tissues related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

40
Brain, Bone

Publications for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

Articles related to Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. 57 6
18477000 2008
2
MECP2 mutations in males. 6 57
17351020 2007
3
Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. 57 6
15557528 2004
4
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. 6 57
11930274 2002
5
Rett syndrome: clinical manifestations in males with MECP2 mutations. 6 57
11913564 2002
6
MeCP2 mutations in children with and without the phenotype of Rett syndrome. 6 57
11402105 2001
7
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 6 57
10577905 1999
8
Cortical reflex myoclonus in Rett syndrome. 6 57
9546328 1998
9
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. 6
30536762 2019
10
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. 6
29720203 2018
11
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
12
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation. 6
28785396 2017
13
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 6
27929079 2016
14
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. 6
27465203 2016
15
The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 6
26936630 2016
16
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. 6
26647311 2016
17
MeCP2 SUMOylation rescues Mecp2-mutant-induced behavioural deficits in a mouse model of Rett syndrome. 6
26842955 2016
18
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 6
26490184 2016
19
MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome. 6
26930212 2016
20
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. 6
26604147 2016
21
Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations. 6
27442528 2016
22
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 6
26741492 2016
23
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 6
26350204 2015
24
Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 6
26418480 2015
25
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. 6
25634563 2015
26
MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells. 6
25644311 2015
27
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 6
25473036 2014
28
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. 6
24970834 2014
29
Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. 6
24626160 2014
30
MECP2 duplication: possible cause of severe phenotype in females. 6
24458799 2014
31
Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 6
25541993 2014
32
Subclinical inflammatory status in Rett syndrome. 6
24511209 2014
33
Pubertal trajectory in females with Rett syndrome: a population-based study. 6
23270700 2013
34
MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits. 6
24283265 2013
35
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 6
23810759 2013
36
Atypical features in MECP2 P152R-associated Rett syndrome. 6
23859859 2013
37
Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. 6
23770587 2013
38
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. 6
23770565 2013
39
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 6
23696494 2013
40
Using a large international sample to investigate epilepsy in Rett syndrome. 6
23421866 2013
41
MeCP2 deficiency is associated with impaired microtubule stability. 6
23238081 2013
42
Targeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization. 6
22923521 2012
43
Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. 6
23220634 2012
44
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? 6
22182064 2012
45
Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 6
22497713 2012
46
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. 6
22578097 2012
47
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. 6
22525432 2012
48
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. 6
21982064 2012
49
Genetic and epileptic features in Rett syndrome. 6
22476991 2012
50
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. 6
22213695 2012

Variations for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

ClinVar genetic disease variations for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations:

6 (show top 50) (show all 337)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MECP2 NM_001110792.2(MECP2):c.844del (p.Arg282fs) Deletion Pathogenic 143702 rs62931162 GRCh37: X:153296471-153296471
GRCh38: X:154031020-154031020
2 MECP2 NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) Deletion Pathogenic 143406 rs61752992 GRCh37: X:153296072-153296115
GRCh38: X:154030621-154030664
3 MECP2 NM_001110792.2(MECP2):c.842del (p.Gly281fs) Deletion Pathogenic 95202 rs61750241 GRCh37: X:153296473-153296473
GRCh38: X:154031022-154031022
4 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV Pathogenic 11815 rs61750240 GRCh37: X:153296471-153296471
GRCh38: X:154031020-154031020
5 MECP2 NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) SNV Pathogenic 11811 rs28934906 GRCh37: X:153296806-153296806
GRCh38: X:154031355-154031355
6 MECP2 NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) Deletion Pathogenic 143601 rs267608488 GRCh37: X:153296790-153296791
GRCh38: X:154031339-154031340
7 MECP2 NM_001110792.2(MECP2):c.789dup (p.Gly264fs) Duplication Pathogenic 143688 rs61749751 GRCh37: X:153296525-153296526
GRCh38: X:154031074-154031075
8 MECP2 NM_001110792.2(MECP2):c.414-3_419del Deletion Pathogenic 156069 rs267608466 GRCh37: X:153296896-153296904
GRCh38: X:154031445-154031453
9 MECP2 MECP2, 1-BP DEL, 806G Deletion Pathogenic 11812 GRCh37:
GRCh38:
10 MECP2 NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del) Deletion Pathogenic 11842 rs1569548314 GRCh37: X:153296091-153296123
GRCh38: X:154030640-154030672
11 MECP2 NM_001110792.2(MECP2):c.153_154AG[1] (p.Glu52fs) Microsatellite Pathogenic 143433 rs267608428 GRCh37: X:153297915-153297916
GRCh38: X:154032464-154032465
12 MECP2 NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) Duplication Pathogenic 406153 rs1557150846 GRCh37: X:153363065-153363066
GRCh38: X:154097608-154097609
13 MECP2 NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs) Deletion Pathogenic 406155 GRCh37: X:153292374-153296121
GRCh38: X:154026923-154030670
14 MECP2 NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) Deletion Pathogenic 143372 rs63749748 GRCh37: X:153296079-153296122
GRCh38: X:154030628-154030671
15 MECP2 NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) SNV Pathogenic 11819 rs61751362 GRCh37: X:153296399-153296399
GRCh38: X:154030948-154030948
16 MECP2 NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) SNV Pathogenic 143653 rs61749715 GRCh37: X:153296605-153296605
GRCh38: X:154031154-154031154
17 MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV Pathogenic 11815 rs61750240 GRCh37: X:153296471-153296471
GRCh38: X:154031020-154031020
18 MECP2 NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) SNV Pathogenic 11819 rs61751362 GRCh37: X:153296399-153296399
GRCh38: X:154030948-154030948
19 MECP2 NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) SNV Pathogenic 143552 rs267608387 GRCh37: X:153296899-153296899
GRCh38: X:154031448-154031448
20 MECP2 NM_001110792.2(MECP2):c.1055dup (p.Ser353fs) Duplication Pathogenic 468728 rs1557136059 GRCh37: X:153296259-153296260
GRCh38: X:154030808-154030809
21 MECP2 NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) SNV Pathogenic 11828 rs61748421 GRCh37: X:153296777-153296777
GRCh38: X:154031326-154031326
22 MECP2 NC_000023.10:g.(?_153295798)_(153298028_?)del Deletion Pathogenic 468727 GRCh37: X:153295798-153298028
GRCh38:
23 MECP2 NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) SNV Pathogenic 11814 rs28934907 GRCh37: X:153297719-153297719
GRCh38: X:154032268-154032268
24 MECP2 NM_001110792.2(MECP2):c.62+1G>A SNV Pathogenic 189776 rs786205048 GRCh37: X:153363060-153363060
GRCh38: X:154097603-154097603
25 MECP2 NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) Deletion Pathogenic 143369 rs267608327 GRCh37: X:153296082-153296122
GRCh38: X:154030631-154030671
26 MECP2 NM_001110792.2(MECP2):c.1173del (p.Val392fs) Deletion Pathogenic 536579 rs1557135793 GRCh37: X:153296142-153296142
GRCh38: X:154030691-154030691
27 MECP2 NM_001110792.2(MECP2):c.1350_1351CG[1] (p.Ala451fs) Microsatellite Pathogenic 536581 rs1557135091 GRCh37: X:153295962-153295963
GRCh38: X:154030511-154030512
28 MECP2 NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs) Duplication Pathogenic 536587 rs1557135004 GRCh37: X:153295930-153295931
GRCh38: X:154030479-154030480
29 overlap with 21 genes NC_000023.10:g.(?_153295726)_(153786885_?)dup Duplication Pathogenic 536592 GRCh37: X:153295726-153786885
GRCh38:
30 overlap with 15 genes NC_000023.10:g.(?_153128098)_(153599633_?)dup Duplication Pathogenic 536593 GRCh37: X:153128098-153599633
GRCh38:
31 MECP2 NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) SNV Pathogenic 143727 rs61751367 GRCh37: X:153296390-153296390
GRCh38: X:154030939-154030939
32 MECP2 NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) Deletion Pathogenic 143457 rs61753972 GRCh37: X:153295970-153295971
GRCh38: X:154030519-154030520
33 MECP2 NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro397_Glu409delinsGlnGlnAsnSerProProTer) Indel Pathogenic 572883 rs1569548307 GRCh37: X:153296089-153296125
GRCh38: X:154030638-154030674
34 overlap with 10 genes NC_000023.10:g.(?_153128118)_(153416424_?)dup Duplication Pathogenic 583440 GRCh37: X:153128118-153416424
GRCh38:
35 overlap with 23 genes NC_000023.10:g.(?_152954010)_(153599633_?)dup Duplication Pathogenic 583533 GRCh37: X:152954010-153599633
GRCh38:
36 overlap with 9 genes NC_000023.10:g.(?_153170600)_(153409869_?)dup Duplication Pathogenic 583846 GRCh37: X:153170600-153409869
GRCh38:
37 MECP2 NC_000023.10:g.(?_153363041)_(153363142_?)del Deletion Pathogenic 583923 GRCh37: X:153363041-153363142
GRCh38:
38 overlap with 7 genes NC_000023.10:g.(?_153295726)_(153599633_?)dup Duplication Pathogenic 584237 GRCh37: X:153295726-153599633
GRCh38:
39 overlap with 10 genes NC_000023.10:g.(?_153128823)_(153416424_?)dup Duplication Pathogenic 584262 GRCh37: X:153128823-153416424
GRCh38:
40 overlap with 8 genes NC_000023.10:g.(?_153184286)_(153409869_?)dup Duplication Pathogenic 584394 GRCh37: X:153184286-153409869
GRCh38:
41 MECP2 NC_000023.10:g.(?_153295726)_(153298028_?)del Deletion Pathogenic 584400 GRCh37: X:153295726-153298028
GRCh38:
42 MECP2 NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) SNV Pathogenic 143738 rs61749723 GRCh37: X:153296374-153296374
GRCh38: X:154030923-154030923
43 MECP2 NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) Deletion Pathogenic 189648 rs1557135315 GRCh37: X:153296078-153296178
GRCh38: X:154030627-154030727
44 MECP2 NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) SNV Pathogenic 11811 rs28934906 GRCh37: X:153296806-153296806
GRCh38: X:154031355-154031355
45 MECP2 NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) SNV Pathogenic 11844 rs179363900 GRCh37: X:153296825-153296825
GRCh38: X:154031374-154031374
46 MECP2 NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) SNV Pathogenic 143562 rs61748390 GRCh37: X:153296878-153296878
GRCh38: X:154031427-154031427
47 MECP2 NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) SNV Pathogenic 143553 rs267608469 GRCh37: X:153296897-153296897
GRCh38: X:154031446-154031446
48 MECP2 NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs) Deletion Pathogenic 576585 rs1569548376 GRCh37: X:153296278-153296282
GRCh38: X:154030827-154030831
49 MECP2 NM_001110792.2(MECP2):c.1173dup (p.Val392fs) Duplication Pathogenic 548031 rs1557135793 GRCh37: X:153296141-153296142
GRCh38: X:154030690-154030691
50 MECP2 NM_001110792.2(MECP2):c.876del (p.Ala293fs) Deletion Pathogenic 547514 rs1557136332 GRCh37: X:153296439-153296439
GRCh38: X:154030988-154030988

Expression for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

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GO Terms for Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations

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