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MRD36
MCID: MNT245
MIFTS: 42

Mental Retardation, Autosomal Dominant 36 (MRD36)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Dominant 36

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MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 36:

Name: Mental Retardation, Autosomal Dominant 36 57 72 29 6
Mrd36 57 12 72
Autosomal Dominant Non-Syndromic Intellectual Disability 36 12 15
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome 58
Mental Retardation, Autosomal Dominant, Type 36 39
Autosomal Dominant Mental Retardation 36 12

Characteristics:

Orphanet epidemiological data:

58
microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
de novo mutation


HPO:

31
mental retardation, autosomal dominant 36:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Gastrointestinal diseases Ear diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Mental Retardation, Autosomal Dominant 36

About this section
UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 36: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, Autosomal Dominant 36, also known as mrd36, is related to glomeruloid hemangioma and solitary osseous plasmacytoma. An important gene associated with Mental Retardation, Autosomal Dominant 36 is PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha), and among its related pathways/superpathways are NF-kappaB Signaling and Cell adhesion molecules. Affiliated tissues include eye, uterus and bone marrow, and related phenotypes are intellectual disability and seizure

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41.

More information from OMIM: 616362 PS156200
Sources

Related Diseases for Mental Retardation, Autosomal Dominant 36

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Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 glomeruloid hemangioma 10.0 SDC1 PTPRC
2 solitary osseous plasmacytoma 10.0 SDC1 CD38
3 plasmacytoma 10.0 PTPRC CD38
4 gamma heavy chain disease 10.0 SDC1 CD38
5 non-secretory myeloma 10.0 SDC1 CD38
6 cystadenocarcinoma 10.0 PTPRC PPP2R1A
7 plasmablastic lymphoma 10.0 PTPRC CD38
8 mental retardation, autosomal dominant 10 10.0 SDC1 CD38
9 extramedullary plasmacytoma 10.0 SDC1 CD38
10 smoldering myeloma 9.9 SDC1 CD38
11 spherocytosis, type 5 9.9 SDC1 CD38
12 plasma cell leukemia 9.9 SDC1 CD38
13 kabuki syndrome 1 9.9 SDC1 CD38
14 monoclonal paraproteinemia 9.9 SDC1 CD19
15 bicipital tenosynovitis 9.9 PTPRC CD19
16 tibial nerve palsy 9.9 PTPRC CD19
17 t cell deficiency 9.8 PTPRC CD19
18 marginal zone b-cell lymphoma 9.8 SDC1 CD19
19 b cell prolymphocytic leukemia 9.8 CD38 CD19
20 prolymphocytic leukemia 9.8 CD38 CD19
21 refractory hematologic cancer 9.8 CD38 CD19
22 invasive malignant thymoma 9.8 CD38 CD19
23 hypotrichosis 1 9.8 PTPRC CD19
24 schuurs-hoeijmakers syndrome 9.8 CD38 CD19
25 cll/sll 9.8 CD38 CD19
26 richter's syndrome 9.8 CD38 CD19
27 primary bacterial infectious disease 9.8 PTPRC CD19
28 autoimmune disease of central nervous system 9.7 PTPRC CD19
29 autoimmune disease of the nervous system 9.7 PTPRC CD19
30 b-lymphoblastic leukemia/lymphoma 9.7 PTPRC CD19
31 autoimmune disease of musculoskeletal system 9.7 PTPRC CD19
32 human immunodeficiency virus infectious disease 9.7 PTPRC CD38
33 omenn syndrome 9.7 PTPRC CD19
34 leber plus disease 9.6 SDC1 PTPRC CD38
35 lymphoma, mucosa-associated lymphoid type 9.6 SDC1 PTPRC CD19
36 mulchandani-bhoj-conlin syndrome 9.5 SDC1 CD38 CD19
37 multicentric castleman disease 9.5 SDC1 CD38 CD19
38 lymphoplasmacytic lymphoma 9.5 SDC1 CD38 CD19
39 lymphoma 9.5 PTPRC CD38 CD19
40 plasma protein metabolism disease 9.5 SDC1 CD38 CD19
41 blood protein disease 9.5 SDC1 CD38 CD19
42 peripheral t-cell lymphoma 9.5 PTPRC CD38 CD19
43 blood platelet disease 9.5 PTPRC CD38 CD19
44 blood coagulation disease 9.5 PTPRC CD38 CD19
45 autosomal dominant non-syndromic intellectual disability 9.5 PTPRC CD38 CD19
46 severe combined immunodeficiency 9.5 PTPRC CD38 CD19
47 combined immunodeficiency 9.5 PTPRC CD38 CD19
48 autoimmune lymphoproliferative syndrome 9.5 PTPRC CD19
49 leukemia, acute lymphoblastic 9.4 PTPRC CD38 CD19
50 leukemia, acute myeloid 9.3 PTPRC CD38 CD19

Graphical network of the top 20 diseases related to Mental Retardation, Autosomal Dominant 36:



Diseases related to Mental Retardation, Autosomal Dominant 36
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Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 36

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Human phenotypes related to Mental Retardation, Autosomal Dominant 36:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizure 31 hallmark (90%) HP:0001250
3 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
4 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
8 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
9 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
10 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
11 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
12 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
13 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
14 facial hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0000297
15 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
16 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
17 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
18 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
19 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
20 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
21 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
22 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
23 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
24 prominent metopic ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005487
25 unilateral renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000122
26 hypoplastic aortic arch 58 31 occasional (7.5%) Occasional (29-5%) HP:0012304
27 aplasia of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000151
28 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
29 gastrostomy tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011471
30 abnormal hair whorl 58 31 occasional (7.5%) Occasional (29-5%) HP:0010721
31 optic nerve hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000609
32 broad hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0010055
33 postaxial polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100259
34 olivopontocerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006955
35 aplasia of the vagina 58 31 occasional (7.5%) Occasional (29-5%) HP:0003250
36 upper eyelid entropion 58 31 occasional (7.5%) Occasional (29-5%) HP:0025607
37 microcephaly 31 occasional (7.5%) HP:0000252
38 inability to walk 31 occasional (7.5%) HP:0002540
39 visual impairment 31 very rare (1%) HP:0000505
40 seizures 58 Very frequent (99-80%)
41 muscular hypotonia 58 Frequent (79-30%)
42 downslanted palpebral fissures 31 HP:0000494
43 abnormality of the eye 58 Occasional (29-5%)
44 tented upper lip vermilion 31 HP:0010804
45 delayed gross motor development 31 HP:0002194
46 generalized hypotonia 31 HP:0001290
47 abnormality of the orbital region 31 HP:0000315
48 hypotonia 31 HP:0001252
49 deviation of the 5th finger 31 HP:0009179

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
open mouth
tented upper lip

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly (in some patients)

Growth Height:
increased height (in some patients)

Neurologic Central Nervous System:
delayed myelination
enlarged ventricles
seizures (in some patients)
hypoplasia or agenesis of the corpus callosum
delayed psychomotor development, severe
more
Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism, mild

Head And Neck Face:
hypotonic facies

Clinical features from OMIM®:

616362 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Mental Retardation, Autosomal Dominant 36:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 CD19 PPP2R1A PTPRC SDC1
Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 36

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Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 36

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Genetic Tests for Mental Retardation, Autosomal Dominant 36

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Genetic tests related to Mental Retardation, Autosomal Dominant 36:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 36 29 PPP2R1A
Sources

Anatomical Context for Mental Retardation, Autosomal Dominant 36

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MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 36:

40
Eye, Uterus, Bone Marrow, Bone, Myeloid
Sources

Publications for Mental Retardation, Autosomal Dominant 36

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Articles related to Mental Retardation, Autosomal Dominant 36:

# Title Authors PMID Year
1
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 6 57
26168268 2015
2
Large-scale discovery of novel genetic causes of developmental disorders. 6 57
25533962 2015
Sources

Variations for Mental Retardation, Autosomal Dominant 36

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ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 36:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP2R1A NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) SNV Pathogenic 190313 rs786205228 GRCh37: 19:52715971-52715971
GRCh38: 19:52212718-52212718
2 PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) SNV Pathogenic 217458 rs863225094 GRCh37: 19:52716329-52716329
GRCh38: 19:52213076-52213076
3 PPP2R1A NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) SNV Pathogenic/Likely pathogenic 190312 rs786205227 GRCh37: 19:52715979-52715979
GRCh38: 19:52212726-52212726
4 PPP2R1A NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp) SNV Likely pathogenic 376505 rs1057519946 GRCh37: 19:52715982-52715982
GRCh38: 19:52212729-52212729
5 PPP2R1A NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) SNV Likely pathogenic 376506 rs1057519947 GRCh37: 19:52715983-52715983
GRCh38: 19:52212730-52212730
6 PPP2R1A NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) SNV Likely pathogenic 521503 rs1555791268 GRCh37: 19:52716212-52716212
GRCh38: 19:52212959-52212959
7 PPP2R1A NM_014225.6(PPP2R1A):c.15C>G (p.Asp5Glu) SNV Uncertain significance 1029258 GRCh37: 19:52693364-52693364
GRCh38: 19:52190111-52190111
8 PPP2R1A NM_014225.6(PPP2R1A):c.*136C>T SNV Uncertain significance 1031809 GRCh37: 19:52729370-52729370
GRCh38: 19:52226117-52226117
9 PPP2R1A NM_014225.6(PPP2R1A):c.1306G>A (p.Val436Met) SNV Uncertain significance 1031810 GRCh37: 19:52723445-52723445
GRCh38: 19:52220192-52220192
10 PPP2R1A NM_014225.6(PPP2R1A):c.775G>A (p.Val259Ile) SNV Uncertain significance 1032611 GRCh37: 19:52716331-52716331
GRCh38: 19:52213078-52213078
11 PPP2R1A NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu) SNV Uncertain significance 976337 GRCh37: 19:52714517-52714517
GRCh38: 19:52211264-52211264
12 PPP2R1A NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) SNV Uncertain significance 916077 GRCh37: 19:52716211-52716211
GRCh38: 19:52212958-52212958
13 PPP2R1A NM_014225.6(PPP2R1A):c.754G>A (p.Ala252Thr) SNV Likely benign 804149 rs1369485535 GRCh37: 19:52716310-52716310
GRCh38: 19:52213057-52213057
14 PPP2R1A NM_014225.6(PPP2R1A):c.75T>G (p.Val25=) SNV Likely benign 135073 rs587778622 GRCh37: 19:52693424-52693424
GRCh38: 19:52190171-52190171

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 36:

72
# Symbol AA change Variation ID SNP ID
1 PPP2R1A p.Val132Leu VAR_073718
2 PPP2R1A p.Pro179Leu VAR_074488 rs786205228
3 PPP2R1A p.Arg182Trp VAR_074489 rs786205227
4 PPP2R1A p.Arg258His VAR_074490 rs863225094

Sources

Expression for Mental Retardation, Autosomal Dominant 36

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Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 36.
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Pathways for Mental Retardation, Autosomal Dominant 36

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Pathways related to Mental Retardation, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
NF-kappaB Signaling 4
11.95 PTPRC CD38 CD19
2
Cell adhesion molecules 36
11.58 SDC1 PTPRC
3
Reelin Pathway (Cajal-Retzius cells) 63
11.44 PPP2R1A CD19
4
Hematopoietic cell lineage 36
11.36 CD38 CD19
5
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.31 SDC1 PTPRC CD19
6
Dendritic Cells Developmental Lineage Pathway 64
11 PTPRC CD38 CD19
7
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
10.99 SDC1 PTPRC CD38 CD19
8
Primary immunodeficiency 36
10.9 PTPRC CD19
Sources

GO Terms for Mental Retardation, Autosomal Dominant 36

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Cellular components related to Mental Retardation, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.72 SDC1 PTPRC PPP2R1A CD38 CD19
2 cell surface GO:0009986 9.33 SDC1 PTPRC CD38
3 secretory granule membrane GO:0030667 9.26 PTPRC CD38
4 external side of plasma membrane GO:0009897 9.13 SDC1 PTPRC CD19
5 extracellular exosome GO:0070062 9.02 SDC1 PTPRC PPP2R1A CD38 CD19

Biological processes related to Mental Retardation, Autosomal Dominant 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to organic substance GO:0010033 9.16 SDC1 PPP2R1A
2 positive regulation of B cell proliferation GO:0030890 8.96 PTPRC CD38
3 B cell receptor signaling pathway GO:0050853 8.8 PTPRC CD38 CD19
Sources

Sources for Mental Retardation, Autosomal Dominant 36

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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