SMMCI
MCID: SLT005
MIFTS: 49

Solitary Median Maxillary Central Incisor (SMMCI)

Categories: Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Solitary Median Maxillary Central Incisor

MalaCards integrated aliases for Solitary Median Maxillary Central Incisor:

Name: Solitary Median Maxillary Central Incisor 56 12 52 73 15 71
Solitary Median Maxillary Central Incisor Syndrome 52 36 29 6
Single Upper Central Incisor 56 12 52 39
Smmci 56 12 52 73
Single Median Maxillary Central Incisor 56 12 13
Single Central Maxillary Incisor 56 12 52
Fused Incisors 56 12 52
Incisors Fused 74 52
Incisors, Fused 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
smcci can be an isolated anomaly, part of a syndrome or association as in vacterl and charge , part of autosomal dominant holoprosencephaly spectrum such as in hpe3 , hpe2 , and hpe4 , or a feature in chromosomal abnormalities such as del(18p) and del(7)(q36->qter)


HPO:

31
solitary median maxillary central incisor:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Solitary Median Maxillary Central Incisor

KEGG : 36 Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, is associated with the disorder.

MalaCards based summary : Solitary Median Maxillary Central Incisor, also known as solitary median maxillary central incisor syndrome, is related to hypopituitarism and duodenal atresia. An important gene associated with Solitary Median Maxillary Central Incisor is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include brain, skin and pituitary, and related phenotypes are holoprosencephaly and microcephaly

Disease Ontology : 12 A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has material basis in heterozygous mutation in SHH on chromosome 7q36.3.

UniProtKB/Swiss-Prot : 73 Solitary median maxillary central incisor: Rare dental anomaly characterized by the congenital absence of one maxillary central incisor.

Wikipedia : 74 Tooth fusion arises through union of two normally separated tooth germs, and depending upon the stage of... more...

More information from OMIM: 147250

Related Diseases for Solitary Median Maxillary Central Incisor

Diseases related to Solitary Median Maxillary Central Incisor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 hypopituitarism 30.7 SIX3 SHH GLI2
2 duodenal atresia 30.2 SHH NODAL
3 pituitary hypoplasia 30.0 TGIF1 SHH
4 cleft palate, isolated 29.7 SHH PTCH1 GLI2 FGF8
5 holoprosencephaly 26.8 ZIC2 TGIF1 SIX3 SHH PTCH1 NODAL
6 semilobar holoprosencephaly 26.2 ZIC2 TGIF1 SIX3 SHH PTCH1 NODAL
7 incisors, fused mandibular 12.6
8 thumb deformity, alopecia, pigmentation anomaly 12.0
9 choanal atresia, posterior 10.7
10 alacrima, achalasia, and mental retardation syndrome 10.6
11 hair whorl 10.6
12 microcephaly 10.6
13 growth hormone deficiency 10.5
14 hemifacial microsomia 10.4
15 pituitary hormone deficiency, combined, 2 10.4
16 hypothyroidism 10.4
17 cleft lip 10.4
18 central nervous system lipoma 10.3 ZIC2 SIX3
19 strabismus 10.2
20 digeorge syndrome 10.2
21 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
22 duane-radial ray syndrome 10.2
23 scoliosis 10.2
24 duane retraction syndrome 10.2
25 vacterl association 10.2
26 ectodermal dysplasia 10.2
27 inappropriate adh syndrome 10.2
28 mechanical strabismus 10.2
29 diabetes insipidus 10.2
30 precocious puberty 10.2
31 isolated duane retraction syndrome 10.2
32 submucosal cleft palate 10.2
33 polydactyly, preaxial ii 10.2 SHH PTCH1
34 hypertelorism 10.2
35 townes-brocks syndrome 10.2
36 chromosomal triplication 10.2
37 chromosome 6q deletion 10.2
38 hypotonia 10.2
39 trisomy 1q 10.2
40 calcifying epithelial odontogenic tumor 10.2 PTCH1 GLI2
41 cerebellum cancer 10.2 SHH PTCH1
42 cerebellar medulloblastoma 10.1 SHH PTCH1
43 keratocystic odontogenic tumor 10.1 SHH PTCH1
44 chromosome 18p deletion syndrome 10.1 ZIC2 TGIF1
45 lipomyelomeningocele 10.1
46 cleft lip/palate 10.1
47 acheiropody 10.1 SHH MNX1
48 orofaciodigital syndrome viii 10.1 ZIC2 SIX3 DISP1
49 focal dermal hypoplasia 10.1 SHH PTCH1
50 holoprosencephaly, recurrent infections, and monocytosis 10.0 SIX3 PTCH1 GLI2

Graphical network of the top 20 diseases related to Solitary Median Maxillary Central Incisor:



Diseases related to Solitary Median Maxillary Central Incisor

Symptoms & Phenotypes for Solitary Median Maxillary Central Incisor

Human phenotypes related to Solitary Median Maxillary Central Incisor:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 holoprosencephaly 31 frequent (33%) HP:0001360
2 microcephaly 31 occasional (7.5%) HP:0000252
3 anosmia 31 occasional (7.5%) HP:0000458
4 anophthalmia 31 occasional (7.5%) HP:0000528
5 microphthalmia 31 occasional (7.5%) HP:0000568
6 cyclopia 31 occasional (7.5%) HP:0009914
7 coloboma 31 occasional (7.5%) HP:0000589
8 short stature 31 very rare (1%) HP:0004322
9 intellectual disability, mild 31 very rare (1%) HP:0001256
10 specific learning disability 31 very rare (1%) HP:0001328
11 cleft upper lip 31 very rare (1%) HP:0000204
12 choanal atresia 31 very rare (1%) HP:0000453
13 hypotelorism 31 very rare (1%) HP:0000601
14 single median maxillary incisor 31 very rare (1%) HP:0006315
15 abnormality of chromosome segregation 31 very rare (1%) HP:0002916
16 growth hormone deficiency 31 very rare (1%) HP:0000824
17 midnasal stenosis 31 very rare (1%) HP:0010644
18 abnormality of the nasopharynx 31 very rare (1%) HP:0001739
19 prominent median palatal raphe 31 very rare (1%) HP:0002708
20 torus palatinus 31 HP:0100789
21 pyriform aperture stenosis 31 HP:0025011

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Respiratory Nasopharynx:
choanal atresia
midnasal stenosis
congenital nasal pyriform aperture stenosis

Endocrine Features:
hypopituitarism
isolated growth hormone deficiency

Head And Neck Teeth:
single median maxillary central incisor (smmci)

Growth Height:
short stature

Head And Neck Eyes:
hypotelorism

Head And Neck Mouth:
prominent midpalatal ridge (torus palatinus)

Clinical features from OMIM:

147250

MGI Mouse Phenotypes related to Solitary Median Maxillary Central Incisor:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 CDON DISP1 FGF8 GAS1 GLI2 MNX1
2 craniofacial MP:0005382 10.29 CDON DISP1 FGF8 GAS1 GLI2 NODAL
3 behavior/neurological MP:0005386 10.27 CDON FGF8 GAS1 GLI2 MNX1 NODAL
4 cardiovascular system MP:0005385 10.27 CDON DISP1 FGF8 GAS1 MNX1 NODAL
5 growth/size/body region MP:0005378 10.27 CDON DISP1 FGF8 GAS1 GLI2 MNX1
6 embryo MP:0005380 10.26 CDON DISP1 FGF8 GAS1 GLI2 NODAL
7 digestive/alimentary MP:0005381 10.24 CDON DISP1 FGF8 GLI2 MNX1 NODAL
8 mortality/aging MP:0010768 10.21 CDON DISP1 FGF8 GAS1 GLI2 MNX1
9 nervous system MP:0003631 10.15 CDON DISP1 FGF8 GAS1 GLI2 MNX1
10 limbs/digits/tail MP:0005371 10.11 CDON DISP1 FGF8 GAS1 GLI2 PTCH1
11 endocrine/exocrine gland MP:0005379 10.05 DISP1 FGF8 GLI2 MNX1 PTCH1 SHH
12 respiratory system MP:0005388 10.03 CDON DISP1 FGF8 GAS1 GLI2 MNX1
13 normal MP:0002873 9.97 DISP1 FGF8 GLI2 MNX1 NODAL PTCH1
14 hearing/vestibular/ear MP:0005377 9.95 FGF8 GAS1 GLI2 PTCH1 SHH TGIF1
15 muscle MP:0005369 9.95 DISP1 FGF8 GLI2 MNX1 NODAL PTCH1
16 skeleton MP:0005390 9.93 CDON DISP1 FGF8 GAS1 GLI2 MNX1
17 vision/eye MP:0005391 9.36 CDON DISP1 FGF8 GAS1 GLI2 NODAL
18 taste/olfaction MP:0005394 9.35 NODAL PTCH1 SHH SIX3 TGIF1

Drugs & Therapeutics for Solitary Median Maxillary Central Incisor

Search Clinical Trials , NIH Clinical Center for Solitary Median Maxillary Central Incisor

Genetic Tests for Solitary Median Maxillary Central Incisor

Genetic tests related to Solitary Median Maxillary Central Incisor:

# Genetic test Affiliating Genes
1 Solitary Median Maxillary Central Incisor Syndrome 29 SHH

Anatomical Context for Solitary Median Maxillary Central Incisor

MalaCards organs/tissues related to Solitary Median Maxillary Central Incisor:

40
Brain, Skin, Pituitary

Publications for Solitary Median Maxillary Central Incisor

Articles related to Solitary Median Maxillary Central Incisor:

(show top 50) (show all 71)
# Title Authors PMID Year
1
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. 61 56 6
11471164 2001
2
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. 56 6
12567406 2003
3
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 61 6
15103725 2004
4
Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome. 61 56
9431535 1997
5
Congenital nasal pyriform aperture stenosis. Isolated abnormality vs developmental field defect. 56
1503729 1992
6
[Single maxillary central incisor and holoprosencephaly]. 56
1465328 1992
7
Single maxillary central incisor in a girl with del(18p) syndrome. 56
1920368 1991
8
Microphthalmia with single central incisor and hypopituitarism. 56
2325094 1990
9
A single maxillary incisor as a manifestation of an ectodermal dysplasia. 56
2585463 1989
10
Holoprosencephaly: a developmental field defect. 56
2629725 1989
11
Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia. 56
3344769 1988
12
Single central maxillary incisor and holoprosencephaly. 56
3425622 1987
13
Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly. 56
3113318 1987
14
Single central incisor in familial holoprosencephaly. 56
6726520 1984
15
Solitary central maxillary incisor associated with precocious puberty and hypothalamic hamartoma. 56
7143176 1982
16
18p - syndrome with a single central maxillary incisor. 56
7328621 1981
17
Solitary maxillary central incisor and short stature. 56
925821 1977
18
Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway. 61
32335464 2020
19
Radiologic, genetic, and endocrine findings in isolated congenital nasal pyriform aperture stenosis patients. 61
31606685 2020
20
The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes. 61
30900264 2019
21
Clinical Evaluation of Solitary Median Maxillary Central Incisor Syndrome. 61
31612083 2019
22
A complex phenotype in a family with a pathogenic SOX3 missense variant. 61
29175558 2018
23
Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. 61
29333838 2018
24
Congenital nasal pyriform aperture stenosis in association with solitary median maxillary central incisor: unique radiologic features. 61
27594945 2016
25
Solitary Median Maxillary Central Incisor Versus Agenesis of the Maxillary Central Incisor. 61
27098718 2016
26
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. 61
26080100 2015
27
Solitary Median Maxillary Central Incisor. 61
26138879 2015
28
Dental Items of Interest: The Case of Delphic Sibyl by Michelangelo: Solitary Median Maxillary Central Incisor or Mesiodens. 61
26930847 2015
29
CT and MRI of congenital nasal lesions in syndromic conditions. 61
25573243 2015
30
Solitary median maxillary central incisor: A case report of a rare dental anomaly. 61
26015739 2015
31
Premolar transplantation in a patient with solitary median maxillary central incisor syndrome. 61
25432260 2014
32
[Solitary median maxillary central incisor syndrome]. 61
25296470 2014
33
Clinical course and implications of congenital nasal pyriform stenosis and solitary median maxillary central incisor in a newborn: a case report. 61
24950703 2014
34
[Solitary median maxillary central incisor syndrome:a case of report]. 61
24935855 2014
35
Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report. 61
24598504 2014
36
Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up. 61
23775592 2013
37
[Congenital piriform aperture stenosis and odontogenic disorders]. 61
23838241 2013
38
Solitary median maxillary central incisor, a clinical predictor of hypoplastic anterior pituitary, ectopic neurohypophysis and growth hormone deficiency. 61
23729612 2013
39
Concomitant solitary median maxillary central incisor and fused right mandibular incisor in primary dentition. 61
23230364 2012
40
The primary Maxillary Central Incisor in the Solitary Median Maxillary Central Incisor syndrome. 61
22455533 2012
41
Solitary median maxillary central incisor: a report of 2 cases. 61
22583889 2012
42
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. 61
22138217 2012
43
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay. 61
23431743 2012
44
Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature. 61
22346174 2011
45
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features. 61
21167328 2011
46
Palatal expansion in a patient with solitary median maxillary central incisor syndrome. 61
20889056 2010
47
Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies. 61
20488907 2010
48
Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report. 61
21070710 2010
49
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. 61
20626079 2010
50
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. 61
20627328 2010

Variations for Solitary Median Maxillary Central Incisor

ClinVar genetic disease variations for Solitary Median Maxillary Central Incisor:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SHH NM_000193.4(SHH):c.331A>T (p.Ile111Phe)SNV Pathogenic 8890 rs104894049 7:155599221-155599221 7:155806527-155806527
2 SHH NM_000193.4(SHH):c.995T>C (p.Val332Ala)SNV Pathogenic 8894 rs104894052 7:155595988-155595988 7:155803294-155803294
3 SHH NM_000193.4(SHH):c.383G>A (p.Trp128Ter)SNV Pathogenic 8895 rs104894053 7:155599169-155599169 7:155806475-155806475
4 SHH NM_000193.4(SHH):c.629G>A (p.Gly210Asp)SNV Uncertain significance 545581 rs1554493882 7:155596354-155596354 7:155803660-155803660
5 SHH NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)SNV Uncertain significance 8886 rs137853341 7:155595836-155595836 7:155803142-155803142
6 SIX3 NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)SNV Benign/Likely benign 30381 rs199823175 2:45169352-45169352 2:44942213-44942213

UniProtKB/Swiss-Prot genetic disease variations for Solitary Median Maxillary Central Incisor:

73
# Symbol AA change Variation ID SNP ID
1 SHH p.Ile111Phe VAR_017883 rs104894049
2 SHH p.Val332Ala VAR_023810 rs104894052

Expression for Solitary Median Maxillary Central Incisor

Search GEO for disease gene expression data for Solitary Median Maxillary Central Incisor.

Pathways for Solitary Median Maxillary Central Incisor

Pathways related to Solitary Median Maxillary Central Incisor according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

Pathways related to Solitary Median Maxillary Central Incisor according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1 12.56 SHH PTCH1 GLI2 FGF8
2
Show member pathways
12.31 SHH PTCH1 GLI2 GAS1 CDON
3
Show member pathways
12.29 ZIC2 NODAL GLI2 FGF8
4
Show member pathways
12.04 SHH PTCH1 GLI2
5 11.96 SHH PTCH1 GLI2
6 11.57 SHH MNX1 FGF8
7 11.31 SHH NODAL FGF8
8 11.25 SHH PTCH1 GLI2
9 11.25 SHH PTCH1 GLI2 GAS1 CDON
10 11.17 SHH PTCH1 GLI2
11 10.97 SHH GLI2 FGF8
12
Show member pathways
10.71 SHH PTCH1 GLI2
13
Show member pathways
10.5 SHH PTCH1 GLI2 GAS1 CDON
14 10.38 SHH PTCH1
15 10.21 TGIF1 SHH NODAL FGF8

GO Terms for Solitary Median Maxillary Central Incisor

Biological processes related to Solitary Median Maxillary Central Incisor according to GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 TGIF1 SHH PTCH1 NODAL GLI2
2 positive regulation of cell proliferation GO:0008284 10.03 SHH NODAL GLI2 FGF8
3 brain development GO:0007420 9.94 ZIC2 SIX3 PTCH1 NODAL
4 heart development GO:0007507 9.91 SHH NODAL GLI2 FGF8
5 central nervous system development GO:0007417 9.87 ZIC2 SHH MNX1
6 kidney development GO:0001822 9.84 SHH GLI2 FGF8
7 heart looping GO:0001947 9.78 SHH NODAL FGF8
8 anterior/posterior pattern specification GO:0009952 9.78 SHH NODAL GLI2 CDON
9 anatomical structure development GO:0048856 9.77 SIX3 SHH GLI2
10 pattern specification process GO:0007389 9.76 SHH PTCH1 GLI2
11 cell fate specification GO:0001708 9.73 SHH CDON
12 metanephros development GO:0001656 9.73 SHH FGF8
13 gastrulation GO:0007369 9.73 NODAL FGF8
14 mammary gland development GO:0030879 9.73 PTCH1 GLI2
15 branching involved in blood vessel morphogenesis GO:0001569 9.73 SHH FGF8
16 lung development GO:0030324 9.73 SHH NODAL GLI2 FGF8
17 pituitary gland development GO:0021983 9.72 SIX3 GLI2
18 vasculature development GO:0001944 9.72 SHH NODAL
19 embryonic hindlimb morphogenesis GO:0035116 9.72 SHH FGF8
20 telencephalon development GO:0021537 9.72 SIX3 FGF8
21 hair follicle morphogenesis GO:0031069 9.72 SHH GLI2
22 branching morphogenesis of an epithelial tube GO:0048754 9.71 SHH GLI2
23 negative regulation of smoothened signaling pathway GO:0045879 9.71 PTCH1 GLI2
24 limb morphogenesis GO:0035108 9.71 PTCH1 FGF8
25 thyroid gland development GO:0030878 9.71 SHH FGF8
26 dopaminergic neuron differentiation GO:0071542 9.71 SHH FGF8
27 branching involved in ureteric bud morphogenesis GO:0001658 9.71 SHH PTCH1 FGF8
28 regulation of smoothened signaling pathway GO:0008589 9.7 PTCH1 GAS1
29 lung morphogenesis GO:0060425 9.7 SHH FGF8
30 hindbrain development GO:0030902 9.7 SHH GLI2
31 embryonic morphogenesis GO:0048598 9.7 SHH CDON
32 striated muscle cell differentiation GO:0051146 9.69 SHH CDON
33 embryonic heart tube development GO:0035050 9.69 NODAL FGF8
34 developmental growth GO:0048589 9.69 SHH GLI2 GAS1
35 male genitalia development GO:0030539 9.68 SHH FGF8
36 osteoblast development GO:0002076 9.68 SHH GLI2
37 pharyngeal system development GO:0060037 9.68 PTCH1 FGF8
38 somite development GO:0061053 9.67 SHH PTCH1
39 digestive tract morphogenesis GO:0048546 9.67 SHH NODAL
40 embryonic pattern specification GO:0009880 9.67 SHH NODAL DISP1
41 determination of left/right symmetry GO:0007368 9.67 SHH NODAL FGF8 DISP1
42 smooth muscle tissue development GO:0048745 9.66 SHH PTCH1
43 prostate gland development GO:0030850 9.66 SHH PTCH1
44 cell proliferation in forebrain GO:0021846 9.65 SIX3 FGF8
45 branching involved in salivary gland morphogenesis GO:0060445 9.65 SHH FGF8
46 metanephric collecting duct development GO:0072205 9.65 SHH PTCH1
47 positive regulation of T cell differentiation in thymus GO:0033089 9.64 SHH GLI2
48 positive regulation of skeletal muscle tissue development GO:0048643 9.63 SHH CDON
49 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.63 PTCH1 GLI2
50 spinal cord motor neuron differentiation GO:0021522 9.63 SHH PTCH1 GLI2

Molecular functions related to Solitary Median Maxillary Central Incisor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.65 ZIC2 TGIF1 SIX3 MNX1 GLI2
2 patched binding GO:0005113 9.16 SHH PTCH1
3 DNA-binding transcription factor activity GO:0003700 9.1 ZNF778 ZIC2 TGIF1 SIX3 MNX1 GLI2
4 morphogen activity GO:0016015 8.96 SHH NODAL

Sources for Solitary Median Maxillary Central Incisor

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11 DGIdb
17 EFO
18 ExPASy
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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53 NINDS
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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