MCID: SHR094
MIFTS: 11

Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

MalaCards integrated aliases for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome:

Name: Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
short stature-advanced bone age-early-onset osteoarthritis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA435804
ICD10 via Orphanet 34 M89.8

Summaries for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

MalaCards based summary : Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome An important gene associated with Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome is ACAN (Aggrecan). Affiliated tissues include bone, and related phenotypes are brachydactyly and developmental stagnation

Related Diseases for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

Symptoms & Phenotypes for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

Human phenotypes related to Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
2 developmental stagnation 59 32 frequent (33%) Frequent (79-30%) HP:0007281
3 short thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009778
4 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
5 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758

Drugs & Therapeutics for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

Search Clinical Trials , NIH Clinical Center for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome

Genetic Tests for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

Anatomical Context for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

MalaCards organs/tissues related to Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome:

41
Bone

Publications for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

Variations for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

Expression for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

Search GEO for disease gene expression data for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome.

Pathways for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

GO Terms for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

Sources for Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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