MCID: MCR258
MIFTS: 47

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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

Aliases & Classifications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

MalaCards integrated aliases for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

Name: Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 53 36 13
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii 12 24 14
Majewski Osteodysplastic Primordial Dwarfism Type Ii 12 49 24
Mopd2 53 24 71
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 49 28
Osteodysplastic Primordial Dwarfism Type Ii 12 24
Osteodysplastic Primordial Dwarfism Type 2 49 71
Mopd Ii 53 49
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities 49
Microcephalic Osteodysplastic Primordial Dwarfism 2 71
Osteodysplastic Primordial Dwarfism, Type Ii 53
Mopd 2 49
Mopdii 24

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
microcephalic osteodysplastic primordial dwarfism, type ii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Genetics Home Reference : 24 Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with affected individuals showing slow prenatal growth (intrauterine growth retardation). After birth, affected individuals continue to grow at a very slow rate. The final adult height of people with this condition ranges from 20 inches to 40 inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip joints (hip dysplasia), thinning of the bones in the arms and legs, an abnormal side-to-side curvature of the spine (scoliosis), and shortened wrist bones. In people with MOPDII head growth slows over time; affected individuals have an adult brain size comparable to that of a 3-month-old infant. However, intellectual development is typically normal.

MalaCards based summary : Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii, also known as microcephalic osteodysplastic primordial dwarfism type ii, is related to dwarfism and blood group, i system, and has symptoms including seizures, dry skin and low-set ears. An important gene associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii is PCNT (Pericentrin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include bone, brain and skin.

Disease Ontology : 12 A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.

NIH Rare Diseases : 49 Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner. Last updated: 11/11/2011

OMIM : 53 Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by Willems et al., 2010). (210720)

UniProtKB/Swiss-Prot : 71 Microcephalic osteodysplastic primordial dwarfism 2: Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence.

Related Diseases for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Diseases in the Microcephalic Osteodysplastic Primordial Dwarfism, Type I family:

Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii

Diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 dwarfism 11.0
2 blood group, i system 10.8
3 intracranial aneurysm 10.5
4 aneurysm 10.5
5 dubowitz syndrome 10.3
6 moyamoya disease 1 10.3
7 craniosynostosis 10.3
8 cerebrovascular disease 10.3
9 seckel syndrome 4 10.0 CENPJ PCNT
10 autosomal recessive primary microcephaly 9.9 CDK5RAP2 CENPJ
11 isolated growth hormone deficiency, type ia 9.9 CNTLN PCNT
12 meier-gorlin syndrome 1 9.6 CEP63 PCNT
13 congenital nervous system abnormality 9.4 CDK5RAP2 CENPJ CEP63
14 physical disorder 9.4 CDK5RAP2 CENPJ CEP63
15 microcephaly 9.0 CDK5RAP2 CENPJ CEP63
16 seckel syndrome 8.6 CENPJ CEP63 CNTLN PCNT TELO2

Graphical network of the top 20 diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:



Diseases related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Symptoms & Phenotypes for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation
postnatal growth retardation, severe

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
short distal phalanges
short first metacarpals
metacarpal pseudoepiphyses
more
Skeletal Pelvis:
coxa vara
small iliac wings
high, narrow pelvis
flat acetabular angles

Skeletal Limbs:
metaphyseal flaring
short, bowed tibiae
short bowed radii
short bowed ulnae
v-shaped flaring of distal femoral metaphyses
more
Skeletal:
delayed bone age

Head And Neck Teeth:
enamel hypoplasia
opalescent teeth
microdontia, severe (in some patients)
rootless molars (in some patients)
malformation of mandibular premolars (in some patients)

Voice:
high-pitched voice

Skin Nails Hair Skin:
cafe-au-lait spots
areas of hypopigmentation and hyperpigmentation that do not follow blaschko lines (in some patients)

Chest External Features:
narrow chest (in some patients)

Skeletal Skull:
large sella turcica (rare)

Endocrine Features:
type ii diabetes
premature puberty

Head And Neck Face:
retrognathia
sloping forehead

Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
sparse scalp hair

Growth Weight:
truncal obesity

Head And Neck Ears:
small ears

Neurologic Central Nervous System:
mental retardation
normal intelligence (in some patients)
developmental delay (mild-severe)
multiple aneurysms
moyamoya disease
more
Head And Neck Eyes:
hyperopia
upward-slanting palpebral fissures

Growth Height:
short stature, disproportionate
adult height (<100cm)

Head And Neck Nose:
prominent nasal root
large nose

Chest RibsSternum Clavicles And Scapulae:
long, slender, straight clavicles (in some patients)
hypoplastic scapulae (in some patients)

Skeletal Feet:
distal symphalangism (in some patients)
long second toe (in some patients)


Clinical features from OMIM:

210720

Human phenotypes related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

31 (show top 50) (show all 85)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 dry skin 31 frequent (33%) HP:0000958
3 low-set ears 31 frequent (33%) HP:0000369
4 abnormality of epiphysis morphology 31 hallmark (90%) HP:0005930
5 precocious puberty 31 occasional (7.5%) HP:0000826
6 intellectual disability 31 occasional (7.5%) HP:0001249
7 scoliosis 31 frequent (33%) HP:0002650
8 global developmental delay 31 occasional (7.5%) HP:0001263
9 recurrent respiratory infections 31 occasional (7.5%) HP:0002205
10 delayed skeletal maturation 31 hallmark (90%) HP:0002750
11 type ii diabetes mellitus 31 HP:0005978
12 wide nasal bridge 31 frequent (33%) HP:0000431
13 microtia 31 HP:0008551
14 microcephaly 31 hallmark (90%) HP:0000252
15 sensorineural hearing impairment 31 frequent (33%) HP:0000407
16 laryngomalacia 31 occasional (7.5%) HP:0001601
17 full cheeks 31 frequent (33%) HP:0000293
18 anemia 31 occasional (7.5%) HP:0001903
19 abnormality of the metaphysis 31 hallmark (90%) HP:0000944
20 retrognathia 31 frequent (33%) HP:0000278
21 narrow chest 31 occasional (7.5%) HP:0000774
22 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
23 micromelia 31 hallmark (90%) HP:0002983
24 joint hyperflexibility 31 frequent (33%) HP:0005692
25 cone-shaped epiphysis 31 occasional (7.5%) HP:0010579
26 microdontia 31 occasional (7.5%) HP:0000691
27 attention deficit hyperactivity disorder 31 occasional (7.5%) HP:0007018
28 intrauterine growth retardation 31 hallmark (90%) HP:0001511
29 postnatal growth retardation 31 HP:0008897
30 atrial septal defect 31 occasional (7.5%) HP:0001631
31 hypopigmented skin patches 31 frequent (33%) HP:0001053
32 ventriculomegaly 31 occasional (7.5%) HP:0002119
33 prominent nasal bridge 31 HP:0000426
34 underdeveloped nasal alae 31 frequent (33%) HP:0000430
35 hypoplastic iliac wing 31 hallmark (90%) HP:0002866
36 hypospadias 31 HP:0000047
37 clinodactyly of the 5th finger 31 hallmark (90%) HP:0004209
38 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
39 multiple cafe-au-lait spots 31 frequent (33%) HP:0007565
40 upslanted palpebral fissure 31 HP:0000582
41 brachydactyly 31 hallmark (90%) HP:0001156
42 nasal speech 31 hallmark (90%) HP:0001611
43 sparse scalp hair 31 HP:0002209
44 fine hair 31 hallmark (90%) HP:0002213
45 reduced number of teeth 31 hallmark (90%) HP:0009804
46 tracheal stenosis 31 occasional (7.5%) HP:0002777
47 stroke 31 occasional (7.5%) HP:0001297
48 arterial stenosis 31 occasional (7.5%) HP:0100545
49 pseudoepiphyses of the metacarpals 31 HP:0009193
50 short distal phalanx of finger 31 HP:0009882

Drugs & Therapeutics for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II Completed NCT03139903

Search NIH Clinical Center for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Genetic Tests for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Genetic tests related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

# Genetic test Affiliating Genes
1 Microcephalic Osteodysplastic Primordial Dwarfism Type 2 28 PCNT

Anatomical Context for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

MalaCards organs/tissues related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

38
Bone, Brain, Skin

Publications for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Articles related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

(show all 20)
# Title Authors Year
1
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990 )
2017
2
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
3
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). ( 27241249 )
2016
4
Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii. ( 26059803 )
2015
5
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. ( 26231886 )
2015
6
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. ( 24928221 )
2014
7
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis. ( 24106199 )
2014
8
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
9
"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. ( 23337351 )
2013
10
Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal. ( 23498563 )
2013
11
Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis. ( 22948629 )
2012
12
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. ( 19643772 )
2010
13
Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. ( 19877776 )
2009
14
Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. ( 18486828 )
2008
15
Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. ( 18577061 )
2008
16
A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II. ( 11131353 )
2000
17
Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. ( 9800908 )
1998
18
Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. ( 8874115 )
1996
19
Microcephalic osteodysplastic primordial dwarfism type II. ( 7551160 )
1995
20
Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features. ( 1815189 )
1991

Variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

ClinVar genetic disease variations for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCNT PCNT, GLN1280HIS single nucleotide variant Pathogenic
2 PCNT PCNT, 3-BP DEL, 9460AAG deletion Pathogenic
3 PCNT NM_006031.5(PCNT): c.3460G> T (p.Glu1154Ter) single nucleotide variant Pathogenic rs387906928 GRCh37 Chromosome 21, 47805894: 47805894
4 PCNT PCNT, 1-BP INS, 1527A insertion Pathogenic
5 PCNT NM_006031.5(PCNT): c.196G> T (p.Gly66Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587779355 GRCh37 Chromosome 21, 47746432: 47746432
6 PCNT NM_006031.5(PCNT): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs181690344 GRCh37 Chromosome 21, 47773029: 47773029
7 PCNT NM_006031.5(PCNT): c.2984_2994delCAGACTTTGAG (p.Ala995Glyfs) deletion Pathogenic rs587784302 GRCh37 Chromosome 21, 47786873: 47786883
8 PCNT NM_006031.5(PCNT): c.5020G> T (p.Glu1674Ter) single nucleotide variant Pathogenic rs587784308 GRCh38 Chromosome 21, 46402388: 46402388
9 PCNT NM_006031.5(PCNT): c.5578G> T (p.Glu1860Ter) single nucleotide variant Pathogenic rs369195346 GRCh37 Chromosome 21, 47831565: 47831565
10 PCNT NM_006031.5(PCNT): c.5727_5736delCCTGGCAGCC (p.Leu1910Glyfs) deletion Pathogenic rs587784312 GRCh37 Chromosome 21, 47831714: 47831723
11 PCNT NM_006031.5(PCNT): c.7796delT (p.Leu2599Argfs) deletion Pathogenic rs587784319 GRCh37 Chromosome 21, 47850029: 47850029
12 PCNT NM_006031.5(PCNT): c.8868dupT (p.Ala2957Cysfs) duplication Pathogenic rs587784320 GRCh37 Chromosome 21, 47855933: 47855933
13 PCNT NM_006031.5(PCNT): c.8917C> T (p.Arg2973Ter) single nucleotide variant Pathogenic rs587784321 GRCh37 Chromosome 21, 47855982: 47855982
14 PCNT NM_006031.5(PCNT): c.658G> T (p.Glu220Ter) single nucleotide variant Pathogenic rs119479061 GRCh37 Chromosome 21, 47766060: 47766060
15 PCNT NM_006031.5(PCNT): c.1887delA (p.Ala630Hisfs) deletion Pathogenic rs397509366 GRCh37 Chromosome 21, 47775492: 47775492
16 PCNT NM_006031.5(PCNT): c.3568dupT (p.Cys1190Leufs) duplication Pathogenic rs397514033 GRCh37 Chromosome 21, 47808760: 47808760
17 PCNT NM_006031.5(PCNT): c.5767C> T (p.Arg1923Ter) single nucleotide variant Pathogenic rs119479062 GRCh37 Chromosome 21, 47831754: 47831754
18 PCNT PCNT, 1-BP INS, 841G insertion Pathogenic
19 PCNT NM_006031.5(PCNT): c.3109G> T (p.Glu1037Ter) single nucleotide variant Pathogenic rs119479063 GRCh37 Chromosome 21, 47786998: 47786998
20 PCNT PCNT, 486-BP DEL, NT84 deletion Pathogenic
21 PCNT NM_006031.5(PCNT): c.8752C> T (p.Arg2918Ter) single nucleotide variant Pathogenic rs119479064 GRCh37 Chromosome 21, 47855817: 47855817
22 PCNT NM_006031.5(PCNT): c.1714_1717delAAAG (p.Lys572Glufs) deletion Pathogenic rs797045875 GRCh38 Chromosome 21, 46354021: 46354024
23 PCNT NM_006031.5(PCNT): c.4938_4939delAG (p.Arg1646Serfs) deletion Pathogenic rs797045879 GRCh37 Chromosome 21, 47821611: 47821612
24 PCNT NM_006031.5(PCNT): c.3166-2A> C single nucleotide variant Likely pathogenic rs774553297 GRCh37 Chromosome 21, 47801607: 47801607
25 PCNT NM_006031.5(PCNT): c.1680-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46353985: 46353985
26 PCNT NM_006031.5(PCNT): c.1975dup (p.Asp659Glyfs) duplication Pathogenic GRCh37 Chromosome 21, 47776927: 47776927
27 PCNT NM_006031.5(PCNT): c.2155-21_2186del deletion Likely pathogenic GRCh38 Chromosome 21, 46363459: 46363511
28 PCNT NM_006031.5(PCNT): c.3058A> T (p.Lys1020Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47786947: 47786947
29 PCNT NM_006031.5(PCNT): c.3880G> T (p.Glu1294Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47810624: 47810624
30 PCNT NM_006031.5(PCNT): c.5482G> T (p.Glu1828Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47831469: 47831469
31 PCNT NM_006031.5(PCNT): c.5992C> T (p.Gln1998Ter) single nucleotide variant Pathogenic rs757577162 GRCh38 Chromosome 21, 46412065: 46412065
32 PCNT NM_006031.5(PCNT): c.9715C> T (p.Gln3239Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 21, 47863737: 47863737
33 PCNT NM_006031.5(PCNT): c.7804G> T (p.Glu2602Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46430123: 46430123

Expression for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Search GEO for disease gene expression data for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii.

Pathways for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

GO Terms for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

Cellular components related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.88 CDK5RAP2 CENPJ CEP63 CNTLN PCNT TELO2
2 cytosol GO:0005829 9.85 CDK5RAP2 CENPJ CEP63 CNTLN PCNT TELO2
3 cytoskeleton GO:0005856 9.65 CDK5RAP2 CENPJ CEP63 CNTLN PCNT
4 microtubule GO:0005874 9.5 CDK5RAP2 CENPJ PCNT
5 microtubule organizing center GO:0005815 9.46 CDK5RAP2 CENPJ CEP63 PCNT
6 spindle pole GO:0000922 9.43 CDK5RAP2 CEP63
7 centrosome GO:0005813 9.35 CDK5RAP2 CENPJ CEP63 CNTLN PCNT
8 centriole GO:0005814 8.92 CENPJ CEP63 CNTLN PCNT

Biological processes related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.56 CDK5RAP2 CENPJ CEP63 PCNT
2 centriole replication GO:0007099 9.33 CDK5RAP2 CENPJ CEP63
3 microtubule cytoskeleton organization GO:0000226 9.32 CDK5RAP2 PCNT
4 ciliary basal body-plasma membrane docking GO:0097711 9.26 CDK5RAP2 CENPJ CEP63 PCNT
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.92 CDK5RAP2 CENPJ CEP63 PCNT

Molecular functions related to Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 9.16 CDK5RAP2 CENPJ
2 protein complex scaffold activity GO:0032947 8.96 PCNT TELO2
3 protein kinase binding GO:0019901 8.92 CDK5RAP2 CENPJ CNTLN TELO2

Sources for Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii

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