MCID: SYN087
MIFTS: 11

Synovial Chondromatosis, Familial, with Dwarfism

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Synovial Chondromatosis, Familial, with Dwarfism

MalaCards integrated aliases for Synovial Chondromatosis, Familial, with Dwarfism:

Name: Synovial Chondromatosis, Familial, with Dwarfism 56
Synovial Chondromatosis, Familial with Dwarfism 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
synovial chondromatosis, familial, with dwarfism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 186575
MedGen 41 C1861304

Summaries for Synovial Chondromatosis, Familial, with Dwarfism

MalaCards based summary : Synovial Chondromatosis, Familial, with Dwarfism, is also known as synovial chondromatosis, familial with dwarfism. Affiliated tissues include bone, and related phenotypes are arthralgia and severe short stature

More information from OMIM: 186575

Related Diseases for Synovial Chondromatosis, Familial, with Dwarfism

Symptoms & Phenotypes for Synovial Chondromatosis, Familial, with Dwarfism

Human phenotypes related to Synovial Chondromatosis, Familial, with Dwarfism:

31
# Description HPO Frequency HPO Source Accession
1 arthralgia 31 HP:0002829
2 severe short stature 31 HP:0003510

Symptoms via clinical synopsis from OMIM:

56
Growth:
dwarfism

Radiology:
calcified joint bodies
bone erosions in joints

Joints:
foci of cartilage in synovial membranes
floating cartilage in joint cavity
joint pain, swelling, crepitus, and palpable loose bodies

Clinical features from OMIM:

186575

Drugs & Therapeutics for Synovial Chondromatosis, Familial, with Dwarfism

Search Clinical Trials , NIH Clinical Center for Synovial Chondromatosis, Familial, with Dwarfism

Genetic Tests for Synovial Chondromatosis, Familial, with Dwarfism

Anatomical Context for Synovial Chondromatosis, Familial, with Dwarfism

MalaCards organs/tissues related to Synovial Chondromatosis, Familial, with Dwarfism:

40
Bone

Publications for Synovial Chondromatosis, Familial, with Dwarfism

Articles related to Synovial Chondromatosis, Familial, with Dwarfism:

# Title Authors PMID Year
1
Familial synovial chondromatosis combined with dwarfism. 56
1733839 1992
2
Familial synovial chondromatosis: brief report. 56
2914993 1989

Variations for Synovial Chondromatosis, Familial, with Dwarfism

Expression for Synovial Chondromatosis, Familial, with Dwarfism

Search GEO for disease gene expression data for Synovial Chondromatosis, Familial, with Dwarfism.

Pathways for Synovial Chondromatosis, Familial, with Dwarfism

GO Terms for Synovial Chondromatosis, Familial, with Dwarfism

Sources for Synovial Chondromatosis, Familial, with Dwarfism

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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