MCID: DST098
MIFTS: 11

Distal Osteosclerosis

Categories: Bone diseases

Aliases & Classifications for Distal Osteosclerosis

MalaCards integrated aliases for Distal Osteosclerosis:

Name: Distal Osteosclerosis 58 74
Osteosclerosis, Distal 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
distal osteosclerosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 126250
MedGen 43 C1852063
UMLS 74 C1852063

Summaries for Distal Osteosclerosis

MalaCards based summary : Distal Osteosclerosis, also known as osteosclerosis, distal, is related to endosteal hyperostosis, autosomal dominant. Affiliated tissues include bone, and related phenotypes are hyperostosis and craniofacial osteosclerosis

Description from OMIM: 126250

Related Diseases for Distal Osteosclerosis

Diseases related to Distal Osteosclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 endosteal hyperostosis, autosomal dominant 9.9

Symptoms & Phenotypes for Distal Osteosclerosis

Human phenotypes related to Distal Osteosclerosis:

33
# Description HPO Frequency HPO Source Accession
1 hyperostosis 33 HP:0100774
2 craniofacial osteosclerosis 33 HP:0005464
3 diaphyseal sclerosis 33 HP:0003034

Symptoms via clinical synopsis from OMIM:

58
Skel:
craniodiaphyseal osteosclerosis

Radiology:
hyperostosis mainly in forearms and lower legs
mild cranial sclerosis

Clinical features from OMIM:

126250

Drugs & Therapeutics for Distal Osteosclerosis

Search Clinical Trials , NIH Clinical Center for Distal Osteosclerosis

Genetic Tests for Distal Osteosclerosis

Anatomical Context for Distal Osteosclerosis

MalaCards organs/tissues related to Distal Osteosclerosis:

42
Bone

Publications for Distal Osteosclerosis

Articles related to Distal Osteosclerosis:

# Title Authors Year
1
Distal osteosclerosis. ( 7438509 )
1980

Variations for Distal Osteosclerosis

Expression for Distal Osteosclerosis

Search GEO for disease gene expression data for Distal Osteosclerosis.

Pathways for Distal Osteosclerosis

GO Terms for Distal Osteosclerosis

Sources for Distal Osteosclerosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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