MCID: OTS013
MIFTS: 41

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

Name: Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 57 75
Osmed 57 53 59 75 55
Chondrodystrophy with Sensorineural Deafness 57 53 75
Nance-Insley Syndrome 57 53 75
Otospondylomegaepiphyseal Dysplasia 53 59
Nance-Sweeney Chondrodysplasia 57 75
Insley-Astley Syndrome 53 75
Osmed Syndrome 76 53
Osmedb 57 75
Weissenbacher-Zweymuller Syndrome, Formerly; Wzs, Formerly 57
Weissenbacher-Zweymuller Syndrome, Formerly 57
Oto-Spondylo-Mega-Epiphyseal Dysplasia 53
Nance Sweeney Chondrodysplasia 53
Megaepiphyseal Dwarfism 73
Wzs, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
otospondylomegaepiphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to stickler syndrome, type 3 and weissenbacher-zweymuller syndrome


HPO:

32
otospondylomegaepiphyseal dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1427Disease definitionOtospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.EpidemiologyThe prevalence is unknown but less than 30 cases have been described in the literature so far.Clinical descriptionTypical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate/bifid uvula, micrognathia, and hypertelorism. Joint pain and restricted mobility of the metacarpophalangeal joints appear during the second decade of life. The sensorineural hearing loss is generally described as moderate and nonprogressive. Early onset of osteoarthritis has also been reported.EtiologyOSMED is classed among the type XI collagenopathies as the majority of reported cases have been associated with homozygousmutations in the COL11A2 gene (6p21.3), encoding the alpha2 chain of type XI collagen.Diagnostic methodsDiagnosis is made on the basis of the clinical phenotype and typical radiographic findings: shortening of the long bones (humerus, radius, ulna, tibia, and fibula) with large epiphyses and metaphyseal flaring, coronal clefting and mild to moderate platyspondyly.Differential diagnosisOSMED shows significant clinical overlap with Weissenbacher-Zweymuller syndrome (WZS) and Stickler syndrome (see these terms). Whilst OSMED and Stickler syndrome can be distinguished early in life due to the absence of ocular anomalies in OSMED, differentiation of OSMED and WZS (also associated with heterozygous mutations in the COL11A2 gene) may be more problematic.Genetic counselingOSMED is inherited as an autosomal recessivetrait.Management and treatmentTreatment is symptomatic only, involving closure of the cleft palate, audiometry and adapted management of the hearing loss, and treatment of the joint pain.PrognosisThe prognosis depends on the severity of the osteoarthritis (which may require early joint replacement), hearing loss and joint pain.Visit the Orphanet disease page for more resources.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive, also known as osmed, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and otospondylomegaepiphyseal dysplasia, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include bone and skin, and related phenotypes are cleft palate and malar flattening

OMIM : 57 Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005). (215150)

UniProtKB/Swiss-Prot : 75 Otospondylomegaepiphyseal dysplasia, autosomal recessive: An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.

Wikipedia : 76 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that... more...

Related Diseases for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Diseases in the Otospondylomegaepiphyseal Dysplasia family:

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal dominant 32.2 COL11A2 COL2A1
2 otospondylomegaepiphyseal dysplasia 32.1 COL11A2 COL2A1
3 stickler syndrome 29.0 COL11A2 COL2A1
4 osteoarthritis 28.7 COL11A2 COL2A1
5 megaepiphyseal dwarfism 10.9
6 leukemia 10.0
7 myeloma, multiple 9.8
8 asthma 9.8
9 burns 9.8
10 sarcoma 9.8
11 vogt-koyanagi-harada disease 9.8
12 melanoma 9.8
13 peritonitis 9.8
14 breast carcinoma in situ 9.8
15 glioma 9.8
16 campomelic dysplasia 9.6 COL11A2 COL2A1
17 spinal stenosis 9.5 COL11A2 COL2A1
18 skeletal dysplasias 9.4 COL11A2 COL2A1
19 cleft palate, isolated 9.3 COL11A2 COL2A1
20 myopia 9.0 COL11A2 COL2A1

Graphical network of the top 20 diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:



Diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Symptoms & Phenotypes for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
anteverted nares
bulbous nasal tip

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Skeletal Limbs:
enlarged joints
metaphyseal flaring
joint contractures
premature osteoarthritis
short long bones
more
Head And Neck Face:
midface hypoplasia
small jaw

Head And Neck Ears:
sensorineural hearing loss
mixed hearing loss

Skeletal Pelvis:
square iliac wings

Respiratory Lung:
recurrent pulmonary infections

Growth Height:
short stature

Skeletal:
epiphyseal dysplasia

Skeletal Feet:
large tarsal bones

Skeletal Hands:
short metacarpals
short hands
short fingers
prominent interphalangeal joints

Skeletal Skull:
mandibular hypoplasia

Head And Neck Eyes:
no ocular symptoms

Skeletal Spine:
increased lumbar lordosis
vertebral coronal clefts (newborn)
enlarged odontoid (childhood)
platyspondyly (childhood)
anterior vertebral wedging (childhood)


Clinical features from OMIM:

215150

Human phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 Very frequent (99-80%) HP:0000175
2 malar flattening 59 32 Very frequent (99-80%) HP:0000272
3 sensorineural hearing impairment 59 32 Very frequent (99-80%) HP:0000407
4 anteverted nares 59 32 Very frequent (99-80%) HP:0000463
5 platyspondyly 59 32 Very frequent (99-80%) HP:0000926
6 recurrent pneumonia 59 32 Frequent (79-30%) HP:0006532
7 depressed nasal ridge 59 Very frequent (99-80%)
8 strabismus 59 Occasional (29-5%)
9 abnormality of the metaphysis 59 Very frequent (99-80%)
10 abnormality of the skin 59 Frequent (79-30%)
11 joint stiffness 59 Very frequent (99-80%)
12 ventricular septal defect 59 Occasional (29-5%)
13 kyphosis 59 Frequent (79-30%)
14 micromelia 59 Very frequent (99-80%)
15 hyperlordosis 59 Frequent (79-30%)
16 abnormal form of the vertebral bodies 59 Very frequent (99-80%)
17 synostosis of carpal bones 59 Occasional (29-5%)
18 feeding difficulties in infancy 59 Frequent (79-30%)
19 abnormality of the lacrimal duct 59 Occasional (29-5%)
20 pierre-robin sequence 32 HP:0000201
21 micrognathia 32 HP:0000347
22 mixed hearing impairment 32 HP:0000410
23 bulbous nose 32 HP:0000414
24 flexion contracture 32 HP:0001371
25 epiphyseal dysplasia 32 HP:0002656
26 arthralgia 32 HP:0002829
27 lumbar hyperlordosis 32 HP:0002938
28 flared metaphysis 32 HP:0003015
29 short long bone 32 HP:0003026
30 enlarged joints 32 HP:0003037
31 premature osteoarthritis 32 HP:0003088
32 coronal cleft vertebrae 32 HP:0003417
33 short palm 32 HP:0004279
34 short stature 32 HP:0004322
35 beaking of vertebral bodies 32 HP:0004568
36 large tarsal bones 32 HP:0004679
37 aplasia/hypoplasia of the capital femoral epiphysis 32 HP:0005003
38 prominent interphalangeal joints 32 HP:0006237
39 short phalanx of finger 32 HP:0009803
40 short metacarpal 32 HP:0010049
41 midface retrusion 32 HP:0011800

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 COL11A2 COL2A1

Drugs & Therapeutics for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Genetic Tests for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Anatomical Context for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

41
Bone, Skin

Publications for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

# Title Authors Year
1
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. ( 21208667 )
2011
2
Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia. ( 18846651 )
2008
3
Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. ( 18381781 )
2008
4
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ( 15558753 )
2005
5
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). ( 11668593 )
2001
6
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. ( 10677296 )
2000
7
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature. ( 8205326 )
1994

Variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly661Arg VAR_001907 rs121912945

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive:

6
(show top 50) (show all 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 COL11A2, 1-BP DEL, 3962G deletion Pathogenic
2 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh37 Chromosome 6, 33144993: 33144993
3 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh38 Chromosome 6, 33177216: 33177216
4 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh37 Chromosome 6, 33141825: 33141825
5 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh38 Chromosome 6, 33174048: 33174048
6 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh37 Chromosome 6, 33135599: 33135599
7 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh38 Chromosome 6, 33167822: 33167822
8 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
9 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
10 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
11 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
12 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
13 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
14 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
15 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
16 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
17 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
18 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh37 Chromosome 6, 33137844: 33137844
19 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh38 Chromosome 6, 33170067: 33170067
20 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh37 Chromosome 6, 33138109: 33138109
21 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh38 Chromosome 6, 33170332: 33170332
22 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh37 Chromosome 6, 33144064: 33144064
23 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh38 Chromosome 6, 33176287: 33176287
24 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh37 Chromosome 6, 33148107: 33148107
25 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh38 Chromosome 6, 33180330: 33180330
26 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh37 Chromosome 6, 33156845: 33156845
27 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh38 Chromosome 6, 33189068: 33189068
28 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh37 Chromosome 6, 33132114: 33132114
29 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh38 Chromosome 6, 33164337: 33164337
30 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh37 Chromosome 6, 33133555: 33133555
31 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh38 Chromosome 6, 33165778: 33165778
32 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh37 Chromosome 6, 33133732: 33133732
33 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh38 Chromosome 6, 33165955: 33165955
34 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh37 Chromosome 6, 33143391: 33143391
35 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh38 Chromosome 6, 33175614: 33175614
36 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh37 Chromosome 6, 33139529: 33139529
37 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh38 Chromosome 6, 33171752: 33171752
38 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh37 Chromosome 6, 33137259: 33137259
39 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh38 Chromosome 6, 33169482: 33169482
40 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh37 Chromosome 6, 33133424: 33133424
41 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh38 Chromosome 6, 33165647: 33165647
42 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh37 Chromosome 6, 33154514: 33154514
43 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh38 Chromosome 6, 33186737: 33186737
44 COL11A2 NM_080680.2(COL11A2): c.5071-5T> G single nucleotide variant Benign/Likely benign rs368309085 GRCh37 Chromosome 6, 33131600: 33131600
45 COL11A2 NM_080680.2(COL11A2): c.5071-5T> G single nucleotide variant Benign/Likely benign rs368309085 GRCh38 Chromosome 6, 33163823: 33163823
46 COL11A2 NM_080680.2(COL11A2): c.4751-9A> G single nucleotide variant Likely benign rs555680585 GRCh37 Chromosome 6, 33132750: 33132750
47 COL11A2 NM_080680.2(COL11A2): c.4751-9A> G single nucleotide variant Likely benign rs555680585 GRCh38 Chromosome 6, 33164973: 33164973
48 COL11A2 NM_080680.2(COL11A2): c.4392+12C> T single nucleotide variant Benign/Likely benign rs117267045 GRCh37 Chromosome 6, 33134278: 33134278
49 COL11A2 NM_080680.2(COL11A2): c.4392+12C> T single nucleotide variant Benign/Likely benign rs117267045 GRCh38 Chromosome 6, 33166501: 33166501
50 COL11A2 NM_080680.2(COL11A2): c.4383C> T (p.Pro1461=) single nucleotide variant Benign/Likely benign rs148262058 GRCh38 Chromosome 6, 33166522: 33166522

Expression for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Search GEO for disease gene expression data for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive.

Pathways for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

GO Terms for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Cellular components related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.96 COL11A2 COL2A1
2 collagen trimer GO:0005581 8.62 COL11A2 COL2A1

Biological processes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.46 COL11A2 COL2A1
2 sensory perception of sound GO:0007605 9.43 COL11A2 COL2A1
3 roof of mouth development GO:0060021 9.4 COL11A2 COL2A1
4 cartilage development GO:0051216 9.37 COL11A2 COL2A1
5 collagen catabolic process GO:0030574 9.32 COL11A2 COL2A1
6 collagen fibril organization GO:0030199 9.26 COL11A2 COL2A1
7 skeletal system morphogenesis GO:0048705 9.16 COL11A2 COL2A1
8 chondrocyte differentiation GO:0002062 8.96 COL11A2 COL2A1
9 tissue homeostasis GO:0001894 8.62 COL11A2 COL2A1

Molecular functions related to Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL11A2 COL2A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL11A2 COL2A1

Sources for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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