MCAHS2
MCID: MLT128
MIFTS: 44

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 (MCAHS2)

Categories: Bone diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

MalaCards integrated aliases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

Name: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 58 12 76 30 13 6 15 74
Glycosylphosphatidylinositol Biosynthesis Defect 4 58 12 76
Mcahs2 58 54 76
Epileptic Encephalopathy, Early Infantile, 20 58 76
Early Infantile Epileptic Encephalopathy 20 12 54
Eiee20 58 76
Gpibd4 58 76
Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2 ) 41
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2 54
Glycosylphosphatidylinositol Biosynthesis Defect 4; Gpibd4 58
Epileptic Encephalopathy, Early Infantile, 20; Eiee20 58
Ferro-Cerebro-Cutaneous Syndrome 76
Mcahs Type 2 54
Fccs 76

Characteristics:

OMIM:

58
Miscellaneous:
variable severity
onset in utero or early infancy
evidence of systemic iron overload seen in 1 family
may be lethal in infancy
variable extraneurologic features

Inheritance:
x-linked recessive


HPO:

33
multiple congenital anomalies-hypotonia-seizures syndrome 2:
Clinical modifier death in infancy
Onset and clinical course variable expressivity
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

NIH Rare Diseases : 54 Multiple congenital anomalies-hypotonia-seizuressyndrome type 2 (MCAHS2) is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone (hypotonia) at birth, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs), and various other problems involving the central nervous system, heart, and urinary system. Specific symptoms (especially those not involving the nervous system) and severity vary from person to person, but most children develop severe developmental delay and intellectual disability. This condition is caused by mutations in the PIGA gene on the X chromosome and inheritance is X-linked recessive, so it typically affects boys. However, in some cases, MCAHS2 is not inherited from a parent and is the result of a new mutation occurring for the first time in a person with MCAHS2 (a de novo mutation). Treatment depends on the symptoms present and aims to control symptoms and increase quality of life. The long-term outlook and life expectancy varies depending on severity. Some children with MCAHS2 do not survive beyond infancy.

MalaCards based summary : Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2, also known as glycosylphosphatidylinositol biosynthesis defect 4, is related to ferro-cerebro-cutaneous syndrome and hemosiderosis, and has symptoms including myoclonic seizures An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A), and among its related pathways/superpathways are Metabolism of proteins and Creation of C4 and C2 activators. Affiliated tissues include heart, eye and pons, and related phenotypes are hepatomegaly and ichthyosis

Disease Ontology : 12 A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has material basis in mutation in the PIGA gene on chromosome Xp22.

OMIM : 58 Multiple congenital anomalies-hypotonia-seizures syndrome-2 is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080); for a discussion of genetic heterogeneity of EIEE, see 308350; and for a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (300868)

UniProtKB/Swiss-Prot : 76 Multiple congenital anomalies-hypotonia-seizures syndrome 2: An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy.

Related Diseases for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Graphical network of the top 20 diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:



Diseases related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Symptoms & Phenotypes for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Human phenotypes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

33 (show top 50) (show all 60)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 33 occasional (7.5%) HP:0002240
2 ichthyosis 33 occasional (7.5%) HP:0008064
3 atrial septal defect 33 occasional (7.5%) HP:0001631
4 cirrhosis 33 occasional (7.5%) HP:0001394
5 vesicoureteral reflux 33 occasional (7.5%) HP:0000076
6 polyhydramnios 33 occasional (7.5%) HP:0001561
7 seborrheic dermatitis 33 occasional (7.5%) HP:0001051
8 elevated alkaline phosphatase 33 occasional (7.5%) HP:0003155
9 duplicated collecting system 33 occasional (7.5%) HP:0000081
10 macrocephaly 33 HP:0000256
11 malar flattening 33 HP:0000272
12 hypertelorism 33 HP:0000316
13 short neck 33 HP:0000470
14 high palate 33 HP:0000218
15 spasticity 33 HP:0001257
16 hyperreflexia 33 HP:0001347
17 gingival overgrowth 33 HP:0000212
18 coarse facial features 33 HP:0000280
19 hearing impairment 33 HP:0000365
20 widely spaced teeth 33 HP:0000687
21 global developmental delay 33 HP:0001263
22 depressed nasal bridge 33 HP:0005280
23 anteverted nares 33 HP:0000463
24 flexion contracture 33 HP:0001371
25 micrognathia 33 HP:0000347
26 generalized myoclonic seizures 33 HP:0002123
27 microdontia 33 HP:0000691
28 absent speech 33 HP:0001344
29 prominent occiput 33 HP:0000269
30 hydrops fetalis 33 HP:0001789
31 cerebral cortical atrophy 33 HP:0002120
32 cerebellar hypoplasia 33 HP:0001321
33 small nail 33 HP:0001792
34 epileptic encephalopathy 33 HP:0200134
35 hypsarrhythmia 33 HP:0002521
36 narrow mouth 33 HP:0000160
37 upslanted palpebral fissure 33 HP:0000582
38 downturned corners of mouth 33 HP:0002714
39 overfolded helix 33 HP:0000396
40 large fontanelles 33 HP:0000239
41 absent septum pellucidum 33 HP:0001331
42 abnormality of skin pigmentation 33 HP:0001000
43 large for gestational age 33 HP:0001520
44 micropenis 33 HP:0000054
45 lower limb spasticity 33 HP:0002061
46 abnormality of the pons 33 HP:0007361
47 hypoplasia of the corpus callosum 33 HP:0002079
48 overgrowth 33 HP:0001548
49 postnatal microcephaly 33 HP:0005484
50 neuronal loss in central nervous system 33 HP:0002529

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
malar flattening
micrognathia
coarse facies

Neurologic Peripheral Nervous System:
hyperreflexia

Head And Neck Teeth:
microdontia
gingival hyperplasia
widely-spaced teeth
pointed teeth

Neurologic Central Nervous System:
epileptic encephalopathy
hypsarrhythmia
delayed myelination
myoclonic seizures
neuronal loss
more
Head And Neck Ears:
overfolded helix
deafness

Head And Neck Mouth:
triangular mouth
high-arched palate
small mouth
downturned corners of the mouth

Head And Neck Eyes:
upslanting palpebral fissures
cortical blindness
widely spaced eyes

Genitourinary External Genitalia Male:
small penis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)
fetal hydrops (in some patients)

Growth Height:
increased birth length (in some patients)

Abdomen Liver:
hepatomegaly (1 family)
cirrhosis (1 family)
iron deposition (1 family)

Skin Nails Hair Skin:
ichthyosis (1 family)
seborrheic dermatitis (1 family)
linear plaque-like scales (1 family)
pigmentation abnormalities (1 family)

Head And Neck Neck:
short neck

Head And Neck Nose:
depressed nasal bridge
short, anteverted nose

Skeletal Skull:
prominent occiput
enlarged fontanel

Genitourinary Bladder:
vesicoureteral reflux

Growth Other:
overgrowth

Skin Nails Hair Nails:
hypoplastic nails

Skeletal:
joint contractures

Head And Neck Head:
microcephaly (in some patients)
increased head circumference (in some patients)
deceleration of head growth

Cardiovascular Heart:
atrial septal defect (in some patients)

Growth Weight:
increased birth weight (in some patients)

Genitourinary Kidneys:
duplicated collecting system (1 patient)

Laboratory Abnormalities:
increased serum alkaline phosphatase (in some patients)

Clinical features from OMIM:

300868

UMLS symptoms related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:


myoclonic seizures

Drugs & Therapeutics for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Search Clinical Trials , NIH Clinical Center for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Genetic Tests for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Genetic tests related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

# Genetic test Affiliating Genes
1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 30 PIGA

Anatomical Context for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

MalaCards organs/tissues related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

42
Heart, Eye, Pons, Skin, Brain, Cerebellum, Olfactory Bulb

Publications for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Articles related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

# Title Authors Year
1
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing. ( 29974678 )
2018
2
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. ( 26545172 )
2016
3
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. ( 24259288 )
2014
4
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. ( 24706016 )
2014
5
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. ( 24259184 )
2014
6
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. ( 24357517 )
2014
7
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. ( 22305531 )
2012
8
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees. ( 9307258 )
1997
9
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. ( 8599356 )
1995

Variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 PIGA p.Arg77Leu VAR_071069 rs587777398
2 PIGA p.Pro93Leu VAR_071070 rs587777400
3 PIGA p.Arg119Trp VAR_071071 rs587777396
4 PIGA p.Ile206Phe VAR_071072 rs201119959

ClinVar genetic disease variations for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2:

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGA NM_002641.3(PIGA): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic rs387906726 GRCh37 Chromosome X, 15339849: 15339849
2 PIGA NM_002641.3(PIGA): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic rs387906726 GRCh38 Chromosome X, 15321727: 15321727
3 PIGA NM_002641.3(PIGA): c.355C> T (p.Arg119Trp) single nucleotide variant Likely pathogenic rs587777396 GRCh37 Chromosome X, 15349698: 15349698
4 PIGA NM_002641.3(PIGA): c.355C> T (p.Arg119Trp) single nucleotide variant Likely pathogenic rs587777396 GRCh38 Chromosome X, 15331576: 15331576
5 PIGA NM_002641.3(PIGA): c.76dupT (p.Tyr26Leufs) duplication Pathogenic rs587777397 GRCh37 Chromosome X, 15349977: 15349977
6 PIGA NM_002641.3(PIGA): c.76dupT (p.Tyr26Leufs) duplication Pathogenic rs587777397 GRCh38 Chromosome X, 15331855: 15331855
7 PIGA NM_002641.3(PIGA): c.230G> T (p.Arg77Leu) single nucleotide variant Pathogenic rs587777398 GRCh37 Chromosome X, 15349823: 15349823
8 PIGA NM_002641.3(PIGA): c.230G> T (p.Arg77Leu) single nucleotide variant Pathogenic rs587777398 GRCh38 Chromosome X, 15331701: 15331701
9 PIGA NM_002641.3(PIGA): c.616A> T (p.Ile206Phe) single nucleotide variant Pathogenic rs201119959 GRCh37 Chromosome X, 15349437: 15349437
10 PIGA NM_002641.3(PIGA): c.616A> T (p.Ile206Phe) single nucleotide variant Pathogenic rs201119959 GRCh38 Chromosome X, 15331315: 15331315
11 PIGA NM_002641.3(PIGA): c.1030_1032delCTT (p.Leu344del) deletion Pathogenic rs587777399 GRCh37 Chromosome X, 15342943: 15342945
12 PIGA NM_002641.3(PIGA): c.1030_1032delCTT (p.Leu344del) deletion Pathogenic rs587777399 GRCh38 Chromosome X, 15324821: 15324823
13 PIGA NM_002641.3(PIGA): c.278C> T (p.Pro93Leu) single nucleotide variant Pathogenic rs587777400 GRCh37 Chromosome X, 15349775: 15349775
14 PIGA NM_002641.3(PIGA): c.278C> T (p.Pro93Leu) single nucleotide variant Pathogenic rs587777400 GRCh38 Chromosome X, 15331653: 15331653
15 PIGA NM_002641.3(PIGA): c.232A> G (p.Lys78Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs776182358 GRCh37 Chromosome X, 15349821: 15349821
16 PIGA NM_002641.3(PIGA): c.232A> G (p.Lys78Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs776182358 GRCh38 Chromosome X, 15331699: 15331699
17 PIGA NM_002641.3(PIGA): c.716-10A> G single nucleotide variant Benign/Likely benign rs375371562 GRCh37 Chromosome X, 15344178: 15344178
18 PIGA NM_002641.3(PIGA): c.716-10A> G single nucleotide variant Benign/Likely benign rs375371562 GRCh38 Chromosome X, 15326056: 15326056
19 PIGA NM_002641.3(PIGA): c.273C> T (p.Tyr91=) single nucleotide variant Benign/Likely benign rs61730284 GRCh37 Chromosome X, 15349780: 15349780
20 PIGA NM_002641.3(PIGA): c.273C> T (p.Tyr91=) single nucleotide variant Benign/Likely benign rs61730284 GRCh38 Chromosome X, 15331658: 15331658
21 PIGA NM_002641.3(PIGA): c.55C> T (p.Arg19Trp) single nucleotide variant Benign rs34422225 GRCh38 Chromosome X, 15331876: 15331876
22 PIGA NM_002641.3(PIGA): c.55C> T (p.Arg19Trp) single nucleotide variant Benign rs34422225 GRCh37 Chromosome X, 15349998: 15349998
23 PIGA NM_002641.3(PIGA): c.1214C> T (p.Ala405Val) single nucleotide variant Benign/Likely benign rs201361742 GRCh37 Chromosome X, 15339869: 15339869
24 PIGA NM_002641.3(PIGA): c.1214C> T (p.Ala405Val) single nucleotide variant Benign/Likely benign rs201361742 GRCh38 Chromosome X, 15321747: 15321747
25 PIGA NM_002641.3(PIGA): c.395C> G (p.Ser132Cys) single nucleotide variant Likely pathogenic rs1060499625 GRCh37 Chromosome X, 15349658: 15349658
26 PIGA NM_002641.3(PIGA): c.395C> G (p.Ser132Cys) single nucleotide variant Likely pathogenic rs1060499625 GRCh38 Chromosome X, 15331536: 15331536
27 PIGA NM_020473.3(PIGA): c.481G> A (p.Glu161Lys) single nucleotide variant Likely pathogenic rs1060499666 GRCh37 Chromosome X, 15342792: 15342792
28 PIGA NM_020473.3(PIGA): c.481G> A (p.Glu161Lys) single nucleotide variant Likely pathogenic rs1060499666 GRCh38 Chromosome X, 15324670: 15324670
29 PIGA NM_002641.3(PIGA): c.61A> G (p.Ser21Gly) single nucleotide variant Uncertain significance rs375401655 GRCh37 Chromosome X, 15349992: 15349992
30 PIGA NM_002641.3(PIGA): c.61A> G (p.Ser21Gly) single nucleotide variant Uncertain significance rs375401655 GRCh38 Chromosome X, 15331870: 15331870
31 PIGA NM_002641.3(PIGA): c.307G> A (p.Ala103Thr) single nucleotide variant Uncertain significance rs777795093 GRCh37 Chromosome X, 15349746: 15349746
32 PIGA NM_002641.3(PIGA): c.307G> A (p.Ala103Thr) single nucleotide variant Uncertain significance rs777795093 GRCh38 Chromosome X, 15331624: 15331624
33 PIGA NM_002641.3(PIGA): c.877A> G (p.Lys293Glu) single nucleotide variant Uncertain significance rs202161781 GRCh37 Chromosome X, 15343246: 15343246
34 PIGA NM_002641.3(PIGA): c.877A> G (p.Lys293Glu) single nucleotide variant Uncertain significance rs202161781 GRCh38 Chromosome X, 15325124: 15325124
35 PIGA NM_002641.3(PIGA): c.1048C> T (p.Pro350Ser) single nucleotide variant Uncertain significance rs372966902 GRCh38 Chromosome X, 15324805: 15324805
36 PIGA NM_002641.3(PIGA): c.1048C> T (p.Pro350Ser) single nucleotide variant Uncertain significance rs372966902 GRCh37 Chromosome X, 15342927: 15342927
37 PIGA NM_002641.3(PIGA): c.348A> G (p.Ile116Met) single nucleotide variant Uncertain significance rs1555945484 GRCh38 Chromosome X, 15331583: 15331583
38 PIGA NM_002641.3(PIGA): c.348A> G (p.Ile116Met) single nucleotide variant Uncertain significance rs1555945484 GRCh37 Chromosome X, 15349705: 15349705
39 PIGA NM_002641.3(PIGA): c.525T> C (p.Leu175=) single nucleotide variant Benign rs61751426 GRCh38 Chromosome X, 15331406: 15331406
40 PIGA NM_002641.3(PIGA): c.525T> C (p.Leu175=) single nucleotide variant Benign rs61751426 GRCh37 Chromosome X, 15349528: 15349528
41 PIGA NM_002641.3(PIGA): c.56G> A (p.Arg19Gln) single nucleotide variant Likely pathogenic rs1555945553 GRCh37 Chromosome X, 15349997: 15349997
42 PIGA NM_002641.3(PIGA): c.56G> A (p.Arg19Gln) single nucleotide variant Likely pathogenic rs1555945553 GRCh38 Chromosome X, 15331875: 15331875
43 PIGA NM_002641.3(PIGA): c.1420G> A (p.Gly474Arg) single nucleotide variant Benign/Likely benign rs61760986 GRCh37 Chromosome X, 15339663: 15339663
44 PIGA NM_002641.3(PIGA): c.1420G> A (p.Gly474Arg) single nucleotide variant Benign/Likely benign rs61760986 GRCh38 Chromosome X, 15321541: 15321541
45 PIGA NM_002641.3(PIGA): c.981+8G> A single nucleotide variant Benign/Likely benign rs778602062 GRCh37 Chromosome X, 15343134: 15343134
46 PIGA NM_002641.3(PIGA): c.981+8G> A single nucleotide variant Benign/Likely benign rs778602062 GRCh38 Chromosome X, 15325012: 15325012
47 PIGA NM_002641.3(PIGA): c.982-4T> A single nucleotide variant Likely benign rs1555944399 GRCh37 Chromosome X, 15342997: 15342997
48 PIGA NM_002641.3(PIGA): c.982-4T> A single nucleotide variant Likely benign rs1555944399 GRCh38 Chromosome X, 15324875: 15324875
49 PIGA NM_002641.3(PIGA): c.982-9delC deletion Likely benign rs1555944408 GRCh37 Chromosome X, 15343002: 15343002
50 PIGA NM_002641.3(PIGA): c.982-9delC deletion Likely benign rs1555944408 GRCh38 Chromosome X, 15324880: 15324880

Expression for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Search GEO for disease gene expression data for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2.

Pathways for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

GO Terms for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

Cellular components related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anchored component of membrane GO:0031225 9.16 CD55 CD59
2 transport vesicle GO:0030133 8.96 CD55 CD59
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.62 CD55 CD59

Biological processes related to Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.16 CD55 CD59
2 ER to Golgi vesicle-mediated transport GO:0006888 8.96 CD55 CD59
3 regulation of complement activation GO:0030449 8.62 CD55 CD59

Sources for Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

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