MCID: OTS014
MIFTS: 43

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

Name: Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 57 75
Weissenbacher-Zweymuller Syndrome 57 12 53 29 13 55 6 40
Pierre Robin Syndrome with Fetal Chondrodysplasia 53 25 75 73
Weissenbacher-Zweymüller Syndrome 76 53 25 15
Wzs 57 53 25 75
Heterozygous Osmed 25 59 75
Heterozygous Otospondylomegaepiphyseal Dysplasia 25 59
Stickler Syndrome, Type Iii 13 40
Osmeda 57 75
Pierre Robin Syndrome with Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly 57
Stickler Syndrome, Type Iii, Formerly; Stl3, Formerly 57
Pierre Robin Sequence-Fetal Chondrodysplasia Syndrome 59
Pierre Robin Syndrome-Fetal Chondrodysplasia Syndrome 59
Weissenbacher-Zweymuller Syndrome; Wzs 57
Stickler Syndrome, Type Iii, Formerly 57
Stickler Syndrome, Non-Ocular Type 59
Weissenbacher- Zweymuller Syndrome 59
Weissenbacher-Zweymueller Syndrome 75
Stickler Syndrome Non-Ocular Type 75
Stickler Syndrome Type Iii 75
Pierre Robin Malformation 12
Stickler Syndrome, Type 3 73
Stickler Syndrome Type 3 59
Stickler-Like Syndrome 75
Pierre Robin Syndrome 44
Piere-Robin Syndrome 12
Osmed, Heterozygous 57
Stickler Syndrome 3 75
Stl3, Formerly 57
Stl3 75

Characteristics:

Orphanet epidemiological data:

59
stickler syndrome type 3
Inheritance: Autosomal dominant;
weissenbacher- zweymuller syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic to osmed and weissenbacher-zweymuller syndrome
also called 'heterozygous osmed' and 'autosomal dominant osmed'


HPO:

32
otospondylomegaepiphyseal dysplasia, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3450Disease definitionWeissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.EpidemiologyWZS is a very rare condition, only a few families have been reported worldwide.Clinical descriptionWZS patients have a period of gradual growth that leads to normal physical development by age 5 to 6 years and final moderate short stature rather than normal stature. Hearing loss is common.EtiologyWZS is caused by heterozygousmutations in the COL11A2 gene.Differential diagnosisAbsence of ocular abnormalities differentiates WZS from Stickler syndrome.Genetic counselingWZS is transmitted as an autosomal dominanttrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant, also known as weissenbacher-zweymuller syndrome, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and otospondylomegaepiphyseal dysplasia, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 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 eye, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 An osteochondrodysplasia that results in shortened long bones and distinct facial abnormalities.

OMIM : 57 Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994). (184840)

UniProtKB/Swiss-Prot : 75 Otospondylomegaepiphyseal dysplasia, autosomal dominant: An autosomal dominant 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 Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia,... more...

Related Diseases for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Diseases in the Otospondylomegaepiphyseal Dysplasia family:

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 31.6 COL11A2 COL2A1
2 otospondylomegaepiphyseal dysplasia 31.0 COL11A2 COL2A1
3 stickler syndrome 29.0 COL11A2 COL2A1
4 stickler syndrome, type 3 12.4
5 pierre robin syndrome and oligodactyly 11.1
6 pierre robin syndrome 11.1
7 stickler syndrome, type i 11.0
8 stickler syndrome, type ii 11.0
9 campomelic dysplasia 9.6 COL11A2 COL2A1
10 spinal stenosis 9.5 COL11A2 COL2A1
11 skeletal dysplasias 9.4 COL11A2 COL2A1
12 cleft palate, isolated 9.3 COL11A2 COL2A1
13 osteoarthritis 9.2 COL11A2 COL2A1
14 myopia 9.0 COL11A2 COL2A1

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



Diseases related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Symptoms & Phenotypes for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
anteverted nares

Skeletal:
epiphyseal dysplasia

Head And Neck Ears:
sensorineural hearing loss

Skeletal Spine:
mild platyspondyly

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Head And Neck Face:
midface hypoplasia

Skeletal Limbs:
premature osteoarthritis
joint pain
large epiphyses

Head And Neck Eyes:
no ocular symptoms


Clinical features from OMIM:

184840

Human phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
4 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
7 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
10 glossoptosis 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000162
11 cleft palate 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000175
12 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
13 micrognathia 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000347
14 abnormal metacarpal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005916
15 exostoses 59 32 occasional (7.5%) Occasional (29-5%) HP:0100777
16 attention deficit hyperactivity disorder 59 32 hallmark (90%) Very frequent (99-80%) HP:0007018
17 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
18 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
19 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
20 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
21 delayed gross motor development 59 32 hallmark (90%) Very frequent (99-80%) HP:0002194
22 coronal cleft vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0003417
23 short femur 59 32 hallmark (90%) Very frequent (99-80%) HP:0003097
24 muscular hypotonia of the trunk 59 32 hallmark (90%) Very frequent (99-80%) HP:0008936
25 metaphyseal widening 59 32 hallmark (90%) Very frequent (99-80%) HP:0003016
26 mild neurosensory hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008587
27 submucous cleft soft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0011819
28 muscular hypotonia 59 Very frequent (99-80%)
29 anteverted nares 32 HP:0000463
30 abnormality of the eye 32 HP:0000478
31 epiphyseal dysplasia 32 HP:0002656
32 platyspondyly 32 HP:0000926
33 midface retrusion 32 HP:0011800
34 hyperactivity 59 Very frequent (99-80%)
35 abnormality of the mandible 59 Very frequent (99-80%)
36 pierre-robin sequence 32 HP:0000201
37 enlarged epiphyses 32 HP:0010580
38 premature osteoarthritis 32 HP:0003088

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

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 Dominant

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

Cochrane evidence based reviews: pierre robin syndrome

Genetic Tests for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Genetic tests related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Weissenbacher-Zweymuller Syndrome 29 COL11A2

Anatomical Context for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

41
Bone, Eye

Publications for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

# Title Authors Year
1
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ( 15558753 )
2005
2
The ocular manifestations of Weissenbacher-Zweymuller syndrome. ( 15044941 )
2004
3
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development. ( 1723388 )
1991
4
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. ( 813535 )
1975

Variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

75
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly1441Glu VAR_013595 rs121912946

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:

6
(show top 50) (show all 180)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.4392+1G> A single nucleotide variant Pathogenic rs750995470 GRCh37 Chromosome 6, 33134289: 33134289
2 COL11A2 NM_080680.2(COL11A2): c.4392+1G> A single nucleotide variant Pathogenic rs750995470 GRCh38 Chromosome 6, 33166512: 33166512
3 COL11A2 NM_080680.2(COL11A2): c.2822_2848del27 (p.Glu941_Pro950delinsAla) deletion Pathogenic rs864309477 GRCh38 Chromosome 6, 33172580: 33172606
4 COL11A2 NM_080680.2(COL11A2): c.2822_2848del27 (p.Glu941_Pro950delinsAla) deletion Pathogenic rs864309477 GRCh37 Chromosome 6, 33140357: 33140383
5 COL11A2 NM_080680.2(COL11A2): c.4322G> A (p.Gly1441Glu) single nucleotide variant Pathogenic rs121912946 GRCh37 Chromosome 6, 33134513: 33134513
6 COL11A2 NM_080680.2(COL11A2): c.4322G> A (p.Gly1441Glu) single nucleotide variant Pathogenic rs121912946 GRCh38 Chromosome 6, 33166736: 33166736
7 COL11A2 NM_080680.2(COL11A2): c.4135C> T (p.Arg1379Ter) single nucleotide variant Pathogenic rs121912950 GRCh37 Chromosome 6, 33135082: 33135082
8 COL11A2 NM_080680.2(COL11A2): c.4135C> T (p.Arg1379Ter) single nucleotide variant Pathogenic rs121912950 GRCh38 Chromosome 6, 33167305: 33167305
9 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
10 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
11 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
12 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
13 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
14 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
15 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
16 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
17 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
18 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
19 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh37 Chromosome 6, 33137844: 33137844
20 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Likely benign rs147576338 GRCh38 Chromosome 6, 33170067: 33170067
21 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh37 Chromosome 6, 33138109: 33138109
22 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh38 Chromosome 6, 33170332: 33170332
23 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh37 Chromosome 6, 33144064: 33144064
24 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh38 Chromosome 6, 33176287: 33176287
25 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh37 Chromosome 6, 33148107: 33148107
26 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh38 Chromosome 6, 33180330: 33180330
27 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh37 Chromosome 6, 33156845: 33156845
28 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh38 Chromosome 6, 33189068: 33189068
29 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh37 Chromosome 6, 33132114: 33132114
30 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh38 Chromosome 6, 33164337: 33164337
31 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh37 Chromosome 6, 33133555: 33133555
32 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh38 Chromosome 6, 33165778: 33165778
33 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh37 Chromosome 6, 33133732: 33133732
34 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh38 Chromosome 6, 33165955: 33165955
35 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh37 Chromosome 6, 33143391: 33143391
36 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh38 Chromosome 6, 33175614: 33175614
37 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh37 Chromosome 6, 33139529: 33139529
38 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh38 Chromosome 6, 33171752: 33171752
39 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh37 Chromosome 6, 33137259: 33137259
40 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh38 Chromosome 6, 33169482: 33169482
41 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh37 Chromosome 6, 33133424: 33133424
42 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh38 Chromosome 6, 33165647: 33165647
43 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh37 Chromosome 6, 33154514: 33154514
44 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh38 Chromosome 6, 33186737: 33186737
45 COL11A2 NM_080680.2(COL11A2): c.5071-5T> G single nucleotide variant Benign/Likely benign rs368309085 GRCh37 Chromosome 6, 33131600: 33131600
46 COL11A2 NM_080680.2(COL11A2): c.5071-5T> G single nucleotide variant Benign/Likely benign rs368309085 GRCh38 Chromosome 6, 33163823: 33163823
47 COL11A2 NM_080680.2(COL11A2): c.4751-9A> G single nucleotide variant Likely benign rs555680585 GRCh37 Chromosome 6, 33132750: 33132750
48 COL11A2 NM_080680.2(COL11A2): c.4751-9A> G single nucleotide variant Likely benign rs555680585 GRCh38 Chromosome 6, 33164973: 33164973
49 COL11A2 NM_080680.2(COL11A2): c.4392+12C> T single nucleotide variant Benign/Likely benign rs117267045 GRCh37 Chromosome 6, 33134278: 33134278
50 COL11A2 NM_080680.2(COL11A2): c.4392+12C> T single nucleotide variant Benign/Likely benign rs117267045 GRCh38 Chromosome 6, 33166501: 33166501

Expression for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

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

Pathways for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

GO Terms for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Cellular components related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 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 Dominant 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 Dominant 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 Dominant

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