CCD
MCID: CLD001
MIFTS: 65

Cleidocranial Dysplasia (CCD)

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

Aliases & Classifications for Cleidocranial Dysplasia

MalaCards integrated aliases for Cleidocranial Dysplasia:

Name: Cleidocranial Dysplasia 56 12 74 52 25 58 73 36 13 54 43 15 71
Cleidocranial Dysostosis 56 12 74 52 25 58 73 29 6
Clcd 56 52 73
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 56 6
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 56 6
Marie-Sainton Disease 12 52
Ccd 56 73
Cleidocranial Dysostosis; Clcd 56
Dysplasia, Cleidocranial 39
Dysplasia Cleidocranial 52
Dento-Osseous Dysplasia 25
Marie-Sainton Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
cleidocranial dysplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/100000 (United States); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
one third of patients represent new mutations


HPO:

31
cleidocranial dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Cleidocranial Dysplasia

Genetics Home Reference : 25 Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the body. Delayed maturation of the skull (cranium) is also characteristic of this condition, including delayed closing of the growth lines where the bones of the skull meet (sutures) and larger than normal spaces (fontanelles) between the skull bones that are noticeable as "soft spots" on the heads of infants. The fontanelles normally close in early childhood, but they may remain open throughout life in people with this disorder. Some individuals with cleidocranial dysplasia have extra pieces of bone called Wormian bones within the sutures. Affected individuals are often shorter than other members of their family at the same age. Many also have short, tapered fingers and broad thumbs; flat feet; knock knees; short shoulder blades (scapulae); and an abnormal curvature of the spine (scoliosis). Typical facial features include a wide, short skull (brachycephaly); a prominent forehead; wide-set eyes (hypertelorism); a flat nose; and a small upper jaw. Individuals with cleidocranial dysplasia often have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture, at a relatively early age. Women with cleidocranial dysplasia have an increased risk of requiring a cesarean section when delivering a baby, due to a narrow pelvis preventing passage of the infant's head. Dental abnormalities are very common in cleidocranial dysplasia and can include delayed loss of the primary (baby) teeth; delayed appearance of the secondary (adult) teeth; unusually shaped, peg-like teeth; misalignment of the teeth and jaws (malocclusion); and extra teeth, sometimes accompanied by cysts in the gums. In addition to skeletal and dental abnormalities, people with cleidocranial dysplasia may have hearing loss and are prone to sinus and ear infections. Some young children with this condition are mildly delayed in the development of motor skills such as crawling and walking, but intelligence is unaffected.

MalaCards based summary : Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and coxa vara. An important gene associated with Cleidocranial Dysplasia is RUNX2 (RUNX Family Transcription Factor 2), and among its related pathways/superpathways are Pathways in cancer and Gastric cancer. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include clavicle, skull and bone, and related phenotypes are hypertelorism and frontal bossing

Disease Ontology : 12 An osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull.

NIH Rare Diseases : 52 Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis , hearing loss , bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations ) in the RUNX2 gene and inheritance is autosomal dominant . It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.

OMIM : 56 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis. Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder. (119600)

KEGG : 36 Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, is the cause of the disease.

UniProtKB/Swiss-Prot : 73 Cleidocranial dysplasia: Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies.

Wikipedia : 74 Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly... more...

Related Diseases for Cleidocranial Dysplasia

Diseases in the Cleidocranial Dysplasia family:

Cleidocranial Dysplasia, Recessive Form Cleidocranial Dysplasia Spectrum Disorder

Diseases related to Cleidocranial Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 220)
# Related Disease Score Top Affiliating Genes
1 parietal foramina with cleidocranial dysplasia 35.0 RUNX2 MSX2
2 coxa vara 31.0 MMP13 COL10A1
3 dysostosis 30.8 RUNX2 MSX2 FGFR2 FGFR1
4 brachydactyly 30.1 SOX9 SHH RUNX2 MSX2 LOC109611589 ACAN
5 scoliosis 30.1 SOX9 RUNX2 MMP13 COL10A1 BGLAP ACAN
6 parietal foramina 29.9 RUNX2 MSX2 IBSP CBFB
7 fibrous dysplasia 29.4 RUNX2 IBSP BGLAP
8 tooth agenesis 29.1 SHH RUNX2 MSX2 MMP13 FGFR2 FGFR1
9 cleft palate, isolated 29.1 SOX9 SHH RUNX2 MSX2 FGFR2 FGFR1
10 bone resorption disease 28.9 SP7 RUNX2 IBSP BGLAP
11 rickets 28.6 IBSP BGLAP ALPL
12 osteoporosis 28.1 SP7 SMAD3 RUNX2 IBSP BGLAP ALPL
13 brittle bone disorder 28.0 SP7 RUNX2 IBSP COL10A1 BGLAP ALPL
14 bone disease 27.5 SP7 RUNX2 MMP13 IBSP FGFR2 FGFR1
15 cleidocranial dysplasia spectrum disorder 12.6
16 yunis-varon syndrome 12.5
17 central core disease of muscle 12.5
18 cleidocranial dysplasia, recessive form 12.4
19 cleidocranial dysplasia and isolated cranial ossification defect 12.3
20 congenital chloride diarrhea 12.0
21 oculodentodigital dysplasia 11.9
22 trichodentoosseous syndrome 11.6
23 cerebral creatine deficiency syndrome 11.4
24 creatine deficiency syndromes 11.2
25 cerebral creatine deficiency syndrome 2 11.2
26 teeth, supernumerary 11.0
27 hypertelorism 10.5
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
29 fgfr-related craniosynostosis syndromes 10.4 FGFR2 FGFR1
30 plagiocephaly 10.3 FGFR2 FGFR1
31 clear cell chondrosarcoma 10.3 SOX9 RUNX2
32 osteoglophonic dysplasia 10.3 FGFR2 FGFR1
33 synovial chondromatosis 10.3 SOX9 RUNX2 FGFR1
34 rothmund-thomson syndrome, type 2 10.3
35 hair whorl 10.3
36 dental anomalies and short stature 10.3
37 leukemia, acute myeloid 10.3
38 hypophosphatasia 10.3
39 micronodular basal cell carcinoma 10.3 SOX9 SHH
40 core binding factor acute myeloid leukemia 10.3 RUNX2 CBFB
41 branchiootic syndrome 1 10.3
42 limb ischemia 10.3
43 osteopetrosis 10.3
44 neurilemmoma 10.3
45 ischemia 10.3
46 enchondromatosis, multiple, ollier type 10.3 RUNX2 MMP13 ACAN
47 corpus callosum lipoma 10.3 SHH MSX2 FGFR1
48 malignant hyperthermia 10.3
49 hypertelorism, microtia, facial clefting syndrome 10.3 MSX2 FGFR2 FGFR1
50 cerebral hemisphere lipoma 10.3 SHH MSX2 FGFR1

Graphical network of the top 20 diseases related to Cleidocranial Dysplasia:



Diseases related to Cleidocranial Dysplasia

Symptoms & Phenotypes for Cleidocranial Dysplasia

Human phenotypes related to Cleidocranial Dysplasia:

58 31 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
4 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
5 hypoplastic inferior ilia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008821
6 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
10 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
11 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
12 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
13 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
14 increased number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0011069
15 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
16 down-sloping shoulders 58 31 hallmark (90%) Very frequent (99-80%) HP:0200021
17 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
18 short clavicles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000894
19 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
20 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
21 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
22 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
23 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
24 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
25 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
26 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
27 sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0000246
28 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
29 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
30 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
31 spina bifida occulta 58 31 frequent (33%) Frequent (79-30%) HP:0003298
32 abnormal sacrum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005107
33 short face 58 31 frequent (33%) Frequent (79-30%) HP:0011219
34 decreased skull ossification 58 31 frequent (33%) Frequent (79-30%) HP:0004331
35 dimple chin 31 frequent (33%) HP:0010751
36 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
37 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
38 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
39 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
40 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
41 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
42 glossoptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000162
43 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
44 abnormal thumb morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001172
45 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
46 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
47 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
48 coxa vara 58 31 occasional (7.5%) Occasional (29-5%) HP:0002812
49 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
50 dystrophic toenail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001810

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

Skeletal Spine:
scoliosis
kyphosis
spondylolisthesis
spondylolysis

Head And Neck Mouth:
cleft palate
narrow, high-arched palate

Skeletal Pelvis:
hypoplastic iliac wing
coxa vara
wide pubic symphysis
delayed mineralization of pubic bone
broad femoral head with short femoral neck

Neurologic Peripheral Nervous System:
syringomyelia

Head And Neck Head:
parietal bossing
delayed fontanelle closure
anterior fontanelle open in adults

Head And Neck Nose:
low nasal bridge

Skeletal:
osteosclerosis
increased bone fragility

Respiratory Airways:
respiratory distress in early infancy

Head And Neck Face:
frontal bossing
micrognathia
midface hypoplasia
metopic groove

Skeletal Hands:
brachydactyly
long second metacarpal
short middle phalanges of second and fifth fingers
cone-shaped phalangeal epiphyses

Skeletal Skull:
wormian bones
hypoplastic frontal sinuses
absent frontal sinuses
absent paranasal sinuses
large foramen magnum
more
Chest Ribs Sternum Clavicles And Scapulae:
cervical ribs
aplastic clavicles
short ribs
small scapula
hypoplastic clavicles

Head And Neck Teeth:
delayed eruption of permanent teeth
enamel hypoplasia
delayed eruption of deciduous teeth
supernumerary teeth
retention cysts

Chest External Features:
abnormal facility in opposing the shoulders
narrow thorax

Head And Neck Ears:
deafness

Growth Height:
short stature, moderate

Clinical features from OMIM:

119600

MGI Mouse Phenotypes related to Cleidocranial Dysplasia:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.4 ALPL CBFB COL10A1 DLX5 FGFR1 FGFR2
2 growth/size/body region MP:0005378 10.39 ALPL CBFB COL10A1 DLX5 FGFR1 FGFR2
3 cellular MP:0005384 10.38 ALPL CBFB COL10A1 DLX5 FGFR1 FGFR2
4 cardiovascular system MP:0005385 10.35 ALPL CBFB DLX5 FGFR1 FGFR2 FIG4
5 digestive/alimentary MP:0005381 10.33 ALPL CBFB DLX5 FGFR1 FGFR2 IBSP
6 behavior/neurological MP:0005386 10.32 ALPL COL10A1 DLX5 FGFR1 FGFR2 FIG4
7 limbs/digits/tail MP:0005371 10.31 ALPL CBFB COL10A1 DLX5 FGFR1 FGFR2
8 immune system MP:0005387 10.27 ALPL CBFB COL10A1 FGFR1 FGFR2 FIG4
9 endocrine/exocrine gland MP:0005379 10.26 ALPL CBFB COL10A1 FGFR1 FGFR2 MSX2
10 hematopoietic system MP:0005397 10.26 ALPL CBFB COL10A1 FGFR1 FGFR2 FIG4
11 integument MP:0010771 10.21 CBFB DLX5 FGFR1 FGFR2 FIG4 MMP13
12 mortality/aging MP:0010768 10.21 ALPL CBFB COL10A1 DLX5 FGFR1 FGFR2
13 embryo MP:0005380 10.19 ALPL CBFB DLX5 FGFR1 FGFR2 MSX2
14 nervous system MP:0003631 10.07 ALPL CBFB COL10A1 DLX5 FGFR1 FGFR2
15 muscle MP:0005369 10.02 ALPL DLX5 FGFR1 FGFR2 FIG4 MSX2
16 hearing/vestibular/ear MP:0005377 9.97 DLX5 FGFR1 FGFR2 MSX2 SHH SOX9
17 no phenotypic analysis MP:0003012 9.7 CBFB FGFR1 FGFR2 RUNX2 RUNX3 SHH
18 respiratory system MP:0005388 9.61 ALPL CBFB DLX5 FGFR2 RUNX2 RUNX3
19 skeleton MP:0005390 9.53 ALPL CBFB COL10A1 DLX5 FGFR1 FGFR2

Drugs & Therapeutics for Cleidocranial Dysplasia

Drugs for Cleidocranial Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224

Search NIH Clinical Center for Cleidocranial Dysplasia

Cochrane evidence based reviews: cleidocranial dysplasia

Genetic Tests for Cleidocranial Dysplasia

Genetic tests related to Cleidocranial Dysplasia:

# Genetic test Affiliating Genes
1 Cleidocranial Dysostosis 29 RUNX2

Anatomical Context for Cleidocranial Dysplasia

The Foundational Model of Anatomy Ontology organs/tissues related to Cleidocranial Dysplasia:

19
Clavicle, Skull

MalaCards organs/tissues related to Cleidocranial Dysplasia:

40
Bone, Eye, Liver, Bone Marrow, Myeloid, Spleen, Heart

Publications for Cleidocranial Dysplasia

Articles related to Cleidocranial Dysplasia:

(show top 50) (show all 872)
# Title Authors PMID Year
1
Dysregulation of chondrogenesis in human cleidocranial dysplasia. 54 61 56 6
15952089 2005
2
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. 6 61 56 54
10545612 1999
3
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. 56 6 61
12424590 2002
4
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. 61 56 6
9182765 1997
5
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. 56 54 61
20014132 2010
6
A Runx2 threshold for the cleidocranial dysplasia phenotype. 61 54 56
19028669 2009
7
Severe cleidocranial dysplasia can mimic hypophosphatasia. 54 61 56
12424591 2002
8
The presence of germ line mosaicism in cleidocranial dysplasia. 56 61
17539909 2007
9
Clarification of data reported in "cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group" (AJMG 139A:78-85). 61 56
16575894 2006
10
Cleidocranial Dysplasia Spectrum Disorder 6 61
20301686 2006
11
Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group. 61 56
16222673 2005
12
Cleidocranial dysplasia with new additional findings. 61 56
15287425 2004
13
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia. 6 61
12081718 2002
14
A natural history of cleidocranial dysplasia. 61 56
11746020 2001
15
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. 61 6
10521292 1999
16
Cleidocranial dysplasia: clinical and molecular genetics. 56 61
10204840 1999
17
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. 6 61
9207800 1997
18
Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism? 61 56
9098480 1997
19
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. 61 56
8782054 1996
20
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. 56 61
8533817 1995
21
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. 56 61
7717404 1995
22
Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation. 56 61
7747775 1995
23
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. 61 56
7711736 1995
24
Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh). 61 56
8270769 1993
25
Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna. 56 61
8279481 1993
26
Abnormal ossification of the hyoid bone in cleidocranial dysplasia. 56 61
8348356 1993
27
Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia. 61 56
8362902 1993
28
Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. 61 56
1605259 1992
29
Intrafamilial variability in cleidocranial dysplasia: a three generation family. 61 56
1536165 1992
30
Somatic development in cleidocranial dysplasia. 61 56
2301472 1990
31
Animal model: skeletal anomalies in mice with cleidocranial dysplasia. 61 56
3605208 1987
32
Cleidocranial dysostosis and syringomyelia. Review of the literature and case report. 56 61
3791747 1987
33
Mandibular prognathism and apertognathia associated with cleidocranial dysostosis in a father and son. 61 56
271922 1977
34
Evidence for an autosomal recessive form of cleidocranial dysostosis. 61 56
1149318 1975
35
Cleidocranial dysostosis. 61 56
13930107 1963
36
Cleidocranial dysostosis. Report of six typical cases and one atypical case. 61 56
14453327 1962
37
The inheritance of cleidocranial dysostosis. 61 56
20285001 1946
38
A genetic linkage map of the mouse: current applications and future prospects. 56
8211130 1993
39
Gamma-ray-induced dominant mutations that cause skeletal abnormalities in mice. II. Description of proved mutations. 56
692541 1978
40
Familial generalized delayed eruption of the dentition with short stature. 56
1062752 1976
41
Osteo-dental dysplasia (cleido-cranial dysostosis); the "Arnold head". 56
14818746 1951
42
The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. 61 54
20225274 2010
43
[Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia]. 54 61
20376792 2010
44
Cleidocranial dysplasia: clinico-radiological illustration of a rare case. 61 54
20339249 2010
45
RUNX2 mutations in cleidocranial dysplasia patients. 54 61
19744171 2010
46
A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. 61 54
20082269 2010
47
The significance of RUNX2 in postnatal development of the mandibular condyle. 61 54
20135247 2010
48
Perspectives on RUNX genes: an update. 61 54
19830829 2009
49
The role of periodontal ligament cells in delayed tooth eruption in patients with cleidocranial dysostosis. 61 54
19960292 2009
50
Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia. 61 54
19767586 2009

Variations for Cleidocranial Dysplasia

ClinVar genetic disease variations for Cleidocranial Dysplasia:

6 (show top 50) (show all 85) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RUNX2 NM_001024630.4(RUNX2):c.189_203delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72fs)indel Pathogenic 9295 rs730880313 6:45390460-45390474 6:45422723-45422737
2 RUNX2 NM_001024630.4(RUNX2):c.891G>A (p.Trp297Ter)SNV Pathogenic 9296 rs104893988 6:45480014-45480014 6:45512277-45512277
3 RUNX2 NM_001024630.4(RUNX2):c.231_260dup (p.Ala80_Ala89dup)duplication Pathogenic 9297 rs606231174 6:45390494-45390523 6:45422757-45422786
4 RUNX2 NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg)SNV Pathogenic 9298 rs104893989 6:45399700-45399700 6:45431963-45431963
5 RUNX2 NM_001024630.4(RUNX2):c.572G>A (p.Ser191Asn)SNV Pathogenic 9299 rs104893990 6:45399748-45399748 6:45432011-45432011
6 RUNX2 NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)SNV Pathogenic 9302 rs104893991 6:45405777-45405777 6:45438040-45438040
7 RUNX2 NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)SNV Pathogenic 9303 rs104893992 6:45405776-45405776 6:45438039-45438039
8 RUNX2 NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala)SNV Pathogenic 9304 rs104893993 6:45405701-45405701 6:45437964-45437964
9 RUNX2 NM_001024630.4(RUNX2):c.1565G>C (p.Ter522Ser)SNV Pathogenic 9305 rs104893994 6:45515041-45515041 6:45547304-45547304
10 RUNX2 NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro)SNV Pathogenic 9306 rs104893995 6:45399682-45399682 6:45431945-45431945
11 RUNX2 NM_001024630.4(RUNX2):c.1228dup (p.Leu410fs)duplication Pathogenic 9307 rs730880315 6:45514704-45514704 6:45546967-45546967
12 RUNX2 NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp)SNV Pathogenic 208165 rs864621970 6:45399652-45399652 6:45431915-45431915
13 RUNX2 NM_001024630.4(RUNX2):c.90dup (p.Ser31fs)duplication Pathogenic 65626 rs397515538 6:45390361-45390361 6:45422624-45422624
14 RUNX2 NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)SNV Pathogenic 65625 rs397515537 6:45514647-45514647 6:45546910-45546910
15 RUNX2 SNV Pathogenic 437934 6:45512244-45512244
16 RUNX2 NM_001024630.4(RUNX2):c.738C>T (p.Leu246=)SNV Pathogenic 694720 6:45459730-45459730 6:45491993-45491993
17 RUNX2 NM_001024630.4(RUNX2):c.217del (p.Ala73fs)deletion Conflicting interpretations of pathogenicity 548612 rs1554384228 6:45390488-45390488 6:45422751-45422751
18 RUNX2 NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs)insertion Uncertain significance 548611 rs1338909353 6:45390504-45390505 6:45422767-45422768
19 RUNX2 NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu)SNV Uncertain significance 634441 rs768473049 6:45514855-45514855 6:45547118-45547118
20 RUNX2 NM_001024630.4(RUNX2):c.159_173ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup)short repeat Uncertain significance 548496 rs781355841 6:45390418-45390419 6:45422681-45422682
21 RUNX2 NM_001024630.4(RUNX2):c.*2318A>TSNV Uncertain significance 357124 rs886061502 6:45517360-45517360 6:45549623-45549623
22 RUNX2 NM_001024630.4(RUNX2):c.*2435T>CSNV Uncertain significance 357126 rs886061503 6:45517477-45517477 6:45549740-45549740
23 RUNX2 NM_001024630.4(RUNX2):c.*2689_*2692CTTT[2]short repeat Uncertain significance 357131 rs886061505 6:45517739-45517742 6:45550002-45550005
24 RUNX2 NM_001024630.4(RUNX2):c.*2786A>GSNV Uncertain significance 357134 rs886061507 6:45517828-45517828 6:45550091-45550091
25 RUNX2 NM_001024630.4(RUNX2):c.*3218A>GSNV Uncertain significance 357142 rs554368801 6:45518260-45518260 6:45550523-45550523
26 RUNX2 NM_001024630.4(RUNX2):c.*3329T>CSNV Uncertain significance 357143 rs886061509 6:45518371-45518371 6:45550634-45550634
27 RUNX2 NM_001024630.4(RUNX2):c.*3642C>TSNV Uncertain significance 357147 rs886061510 6:45518684-45518684 6:45550947-45550947
28 RUNX2 NM_001024630.4(RUNX2):c.-64T>CSNV Uncertain significance 357087 rs750277342 6:45296400-45296400 6:45328663-45328663
29 RUNX2 NM_001024630.4(RUNX2):c.-40C>TSNV Uncertain significance 357088 rs886061492 6:45296424-45296424 6:45328687-45328687
30 RUNX2 NM_001024630.4(RUNX2):c.*2697deldeletion Uncertain significance 357132 rs886061506 6:45517739-45517739 6:45550002-45550002
31 RUNX2 NM_001024630.4(RUNX2):c.581-9T>CSNV Uncertain significance 357091 rs374414428 6:45405675-45405675 6:45437938-45437938
32 RUNX2 NM_001024630.4(RUNX2):c.234G>A (p.Ala78=)SNV Uncertain significance 357090 rs886061493 6:45390505-45390505 6:45422768-45422768
33 RUNX2 NM_001024630.4(RUNX2):c.*2622G>CSNV Uncertain significance 357129 rs886061504 6:45517664-45517664 6:45549927-45549927
34 RUNX2 NM_001024630.4(RUNX2):c.*2612C>GSNV Uncertain significance 357128 rs539989584 6:45517654-45517654 6:45549917-45549917
35 RUNX2 NM_001024630.4(RUNX2):c.*794T>CSNV Uncertain significance 357106 rs886061497 6:45515836-45515836 6:45548099-45548099
36 RUNX2 NM_001024630.4(RUNX2):c.*701C>GSNV Uncertain significance 357105 rs886061496 6:45515743-45515743 6:45548006-45548006
37 RUNX2 NM_001024630.4(RUNX2):c.*2845A>CSNV Uncertain significance 357136 rs558458433 6:45517887-45517887 6:45550150-45550150
38 RUNX2 NM_001024630.4(RUNX2):c.*3605C>TSNV Uncertain significance 357146 rs562888619 6:45518647-45518647 6:45550910-45550910
39 RUNX2 NM_001024630.4(RUNX2):c.-66-14G>TSNV Uncertain significance 357086 rs768238770 6:45296384-45296384 6:45328647-45328647
40 RUNX2 NM_001024630.4(RUNX2):c.*591deldeletion Uncertain significance 357101 rs886061494 6:45515633-45515633 6:45547896-45547896
41 RUNX2 NM_001024630.4(RUNX2):c.*608T>CSNV Uncertain significance 357104 rs886061495 6:45515650-45515650 6:45547913-45547913
42 RUNX2 NM_001024630.4(RUNX2):c.*881A>GSNV Uncertain significance 357107 rs886061498 6:45515923-45515923 6:45548186-45548186
43 RUNX2 NM_001024630.4(RUNX2):c.*967T>CSNV Uncertain significance 357108 rs886061499 6:45516009-45516009 6:45548272-45548272
44 RUNX2 NM_001024630.4(RUNX2):c.*1415G>TSNV Uncertain significance 357111 rs146749281 6:45516457-45516457 6:45548720-45548720
45 RUNX2 NM_001024630.4(RUNX2):c.*1549T>ASNV Uncertain significance 357116 rs757660837 6:45516591-45516591 6:45548854-45548854
46 RUNX2 NM_001024630.4(RUNX2):c.*2890A>GSNV Uncertain significance 357138 rs886061508 6:45517932-45517932 6:45550195-45550195
47 RUNX2 NM_001024630.4(RUNX2):c.*1278T>CSNV Uncertain significance 357110 rs756225322 6:45516320-45516320 6:45548583-45548583
48 RUNX2 NM_001024630.4(RUNX2):c.*1455C>TSNV Uncertain significance 357114 rs886061501 6:45516497-45516497 6:45548760-45548760
49 RUNX2 NM_001024630.4(RUNX2):c.*1684G>CSNV Uncertain significance 357117 rs745340776 6:45516726-45516726 6:45548989-45548989
50 RUNX2 NM_001024630.4(RUNX2):c.*1919C>TSNV Likely benign 357120 rs6912472 6:45516961-45516961 6:45549224-45549224

UniProtKB/Swiss-Prot genetic disease variations for Cleidocranial Dysplasia:

73 (show all 47)
# Symbol AA change Variation ID SNP ID
1 RUNX2 p.Leu113Arg VAR_012132
2 RUNX2 p.Ser118Arg VAR_012133
3 RUNX2 p.Phe121Cys VAR_012134
4 RUNX2 p.Cys123Arg VAR_012135
5 RUNX2 p.Arg169Gln VAR_012137 rs104893995
6 RUNX2 p.Met175Arg VAR_012138 rs104893989
7 RUNX2 p.Arg190Gln VAR_012139 rs105752106
8 RUNX2 p.Arg190Trp VAR_012140
9 RUNX2 p.Ser191Asn VAR_012141 rs104893990
10 RUNX2 p.Arg193Cys VAR_012142
11 RUNX2 p.Phe197Ser VAR_012143
12 RUNX2 p.Leu199Phe VAR_012144
13 RUNX2 p.Thr200Ala VAR_012145 rs104893993
14 RUNX2 p.Thr205Arg VAR_012146
15 RUNX2 p.Gln209Arg VAR_012147
16 RUNX2 p.Arg225Gln VAR_012148 rs104893991
17 RUNX2 p.Arg225Trp VAR_012149 rs104893992
18 RUNX2 p.Gln53Leu VAR_064081
19 RUNX2 p.Ser118Asn VAR_064082
20 RUNX2 p.Arg131Cys VAR_064083
21 RUNX2 p.Arg131Gly VAR_064084
22 RUNX2 p.Arg131Ser VAR_064085
23 RUNX2 p.Leu136Pro VAR_064086
24 RUNX2 p.Val156Asp VAR_064087
25 RUNX2 p.Val156Gly VAR_064088
26 RUNX2 p.Arg169Pro VAR_064089 rs104893995
27 RUNX2 p.Met175Lys VAR_064090
28 RUNX2 p.Met175Val VAR_064091 rs201647225
29 RUNX2 p.Phe187Ser VAR_064092
30 RUNX2 p.Arg193Gln VAR_064093
31 RUNX2 p.Thr200Ile VAR_064094
32 RUNX2 p.Ile201Lys VAR_064095
33 RUNX2 p.Gln209His VAR_064096
34 RUNX2 p.Ala211Pro VAR_064097
35 RUNX2 p.Lys218Glu VAR_064098
36 RUNX2 p.Lys218Asn VAR_064099 rs752933596
37 RUNX2 p.Lys218Gln VAR_064100
38 RUNX2 p.Thr220Ile VAR_064101
39 RUNX2 p.Arg225Leu VAR_064102
40 RUNX2 p.Arg228Gly VAR_064103
41 RUNX2 p.Lys233Arg VAR_064104
42 RUNX2 p.Asp287Asn VAR_064105
43 RUNX2 p.Ala362Val VAR_064106
44 RUNX2 p.Thr420Ile VAR_064107
45 RUNX2 p.Thr420Asn VAR_064108
46 RUNX2 p.Arg186Thr VAR_079577
47 RUNX2 p.Arg193Gly VAR_079578

Copy number variations for Cleidocranial Dysplasia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 210237 6 29900000 45200000 Deletion RUNX2 Cleidocranial dysplasia
2 213416 6 45404031 45626797 Microdeletion RUNX2 Cleidocranial dysplasia

Expression for Cleidocranial Dysplasia

Search GEO for disease gene expression data for Cleidocranial Dysplasia.

Pathways for Cleidocranial Dysplasia

Pathways related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1 12.68 TCF7 SMAD3 SHH FGFR2 FGFR1
2
Show member pathways
12.59 TCF7 SMAD3 SHH FGFR2 FGFR1
3 12.03 TCF7 SMAD3 SHH RUNX3 ALPL
4 11.87 TCF7 SMAD3 FGFR2 FGFR1 DLX5
5 11.74 SMAD3 RUNX3 RUNX2
6 11.73 RUNX2 MMP13 FGFR1 BGLAP
7 11.69 MMP13 FGFR2 FGFR1
8 11.62 SOX9 SHH FGFR1
9 11.6 SMAD3 RUNX2 CBFB
10 11.56 SOX9 MSX2 FGFR2 FGFR1 DLX5
11 11.54 TCF7 SMAD3 FGFR1
12 11.49 SMAD3 MMP13 ALPL
13 11.42 SMAD3 RUNX3 RUNX2
14 11.29 SMAD3 RUNX2 BGLAP
15 11.25 RUNX2 IBSP BGLAP
16 11.23 RUNX2 FGFR2 FGFR1 BGLAP
17 11.04 SOX9 RUNX3 RUNX2 MMP13 FGFR1 COL10A1
18 10.94 SHH RUNX2 MMP13 IBSP BGLAP
19 10.72 IBSP BGLAP

GO Terms for Cleidocranial Dysplasia

Cellular components related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.97 SHH MMP13 IBSP FGFR2 FGFR1 COL10A1
2 nuclear chromatin GO:0000790 9.7 SP7 SOX9 SMAD3 RUNX3 RUNX2 MSX2
3 transcription factor complex GO:0005667 9.56 TCF7 SOX9 SMAD3 RUNX2
4 extracellular matrix GO:0031012 9.02 SHH MMP13 COL10A1 ALPL ACAN
5 core-binding factor complex GO:0016513 8.96 RUNX3 CBFB

Biological processes related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.29 TCF7 SOX9 SMAD3 SHH RUNX3 RUNX2
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.21 SP7 SOX9 SMAD3 SHH RUNX2 FGFR2
3 positive regulation of transcription, DNA-templated GO:0045893 10.15 SOX9 SMAD3 SHH RUNX3 RUNX2 DLX5
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.14 TCF7 SMAD3 SHH RUNX3 MSX2 FGFR2
5 positive regulation of cell proliferation GO:0008284 10.13 SOX9 SHH RUNX2 FGFR2 FGFR1
6 positive regulation of gene expression GO:0010628 10.12 SOX9 SMAD3 SHH RUNX2 DLX5
7 regulation of gene expression GO:0010468 10.03 SOX9 SHH RUNX2 FGFR1
8 regulation of cell proliferation GO:0042127 10.01 TCF7 SOX9 SHH FGFR1
9 extracellular matrix organization GO:0030198 9.99 SOX9 MMP13 IBSP COL10A1 ACAN
10 wound healing GO:0042060 9.91 SMAD3 MSX2 FGFR2
11 lung development GO:0030324 9.91 SHH FGFR2 FGFR1
12 BMP signaling pathway GO:0030509 9.91 RUNX2 MSX2 DLX5
13 cartilage development GO:0051216 9.9 SOX9 MSX2 MMP13
14 cellular response to growth factor stimulus GO:0071363 9.89 MSX2 IBSP BGLAP
15 negative regulation of epithelial cell proliferation GO:0050680 9.89 SOX9 RUNX3 FGFR2
16 inner ear morphogenesis GO:0042472 9.89 FGFR2 FGFR1 DLX5
17 positive regulation of epithelial cell proliferation GO:0050679 9.88 SOX9 FGFR2 DLX5
18 cell fate commitment GO:0045165 9.88 SOX9 SHH FGFR2
19 cellular response to transforming growth factor beta stimulus GO:0071560 9.88 SOX9 SMAD3 FGFR2
20 skeletal system morphogenesis GO:0048705 9.85 RUNX2 FGFR2 FGFR1
21 embryonic limb morphogenesis GO:0030326 9.85 SHH MSX2 FGFR1 DLX5
22 ureteric bud development GO:0001657 9.83 SMAD3 FGFR2 FGFR1
23 biomineral tissue development GO:0031214 9.83 IBSP BGLAP ALPL
24 cell maturation GO:0048469 9.82 RUNX2 FGFR1 CBFB
25 cellular response to BMP stimulus GO:0071773 9.82 SOX9 RUNX2 DLX5
26 midbrain development GO:0030901 9.81 SHH FGFR2 FGFR1
27 embryonic cranial skeleton morphogenesis GO:0048701 9.81 SMAD3 RUNX2 FGFR2
28 bone mineralization GO:0030282 9.81 MMP13 IBSP FGFR2 BGLAP
29 embryonic forelimb morphogenesis GO:0035115 9.79 SHH RUNX2 MSX2
30 chondrocyte differentiation GO:0002062 9.78 SOX9 RUNX3 RUNX2 FGFR1
31 embryonic pattern specification GO:0009880 9.76 SMAD3 SHH FGFR2
32 odontogenesis GO:0042476 9.76 SHH MSX2 FGFR2 BGLAP
33 positive regulation of chondrocyte differentiation GO:0032332 9.75 SOX9 SMAD3 RUNX2
34 epithelial tube branching involved in lung morphogenesis GO:0060441 9.74 SOX9 SHH
35 regulation of osteoblast differentiation GO:0045667 9.74 RUNX2 FGFR2
36 ear development GO:0043583 9.74 FGFR1 DLX5
37 prostate gland development GO:0030850 9.74 SOX9 SHH
38 embryonic digestive tract morphogenesis GO:0048557 9.74 TCF7 SHH FGFR2
39 mesenchymal cell differentiation GO:0048762 9.73 FGFR2 FGFR1
40 branching involved in salivary gland morphogenesis GO:0060445 9.73 SHH FGFR2 FGFR1
41 bone morphogenesis GO:0060349 9.73 MSX2 MMP13 FGFR2 DLX5
42 ossification GO:0001503 9.73 SOX9 RUNX2 MSX2 DLX5 CBFB BGLAP
43 embryonic foregut morphogenesis GO:0048617 9.72 SMAD3 SHH
44 positive regulation of phospholipase activity GO:0010518 9.72 FGFR2 FGFR1
45 endochondral bone growth GO:0003416 9.72 MSX2 FGFR2
46 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.71 RUNX2 DLX5
47 endochondral ossification GO:0001958 9.71 RUNX2 MMP13 DLX5 ALPL
48 lung lobe morphogenesis GO:0060463 9.7 SHH FGFR2
49 lacrimal gland development GO:0032808 9.7 SOX9 FGFR2
50 limb bud formation GO:0060174 9.7 SOX9 SHH FGFR2

Molecular functions related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 TCF7 SP7 SOX9 SMAD3 RUNX3 RUNX2
2 sequence-specific DNA binding GO:0043565 9.88 TCF7 SOX9 SMAD3 MSX2 DLX5 CBFB
3 DNA-binding transcription factor activity GO:0003700 9.87 TCF7 SOX9 SMAD3 RUNX3 RUNX2 DLX5
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.83 SP7 SOX9 SMAD3 RUNX2 DLX5
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 TCF7 SP7 SOX9 SMAD3 RUNX2 DLX5
6 transcription coregulator activity GO:0003712 9.69 SMAD3 MSX2 CBFB
7 beta-catenin binding GO:0008013 9.67 TCF7 SOX9 SMAD3
8 enhancer binding GO:0035326 9.52 SOX9 SMAD3
9 DEAD/H-box RNA helicase binding GO:0017151 9.46 SP7 SMAD3
10 transcription regulatory region DNA binding GO:0044212 9.43 TCF7 SOX9 SMAD3 RUNX2 MSX2 DLX5
11 fibroblast growth factor-activated receptor activity GO:0005007 9.37 FGFR2 FGFR1
12 bHLH transcription factor binding GO:0043425 9.33 SOX9 SMAD3 RUNX2
13 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 TCF7 SP7 SOX9 SMAD3 RUNX3 RUNX2

Sources for Cleidocranial Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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