MCID: DST098
MIFTS: 12

Distal Osteosclerosis

Categories: Bone diseases

Aliases & Classifications for Distal Osteosclerosis

MalaCards integrated aliases for Distal Osteosclerosis:

Name: Distal Osteosclerosis 57 73
Osteosclerosis, Distal 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
distal osteosclerosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 126250
MedGen 42 C1852063
UMLS 73 C1852063

Summaries for Distal Osteosclerosis

MalaCards based summary : Distal Osteosclerosis, also known as osteosclerosis, distal, is related to chromosomal triplication. 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 chromosomal triplication 9.9

Symptoms & Phenotypes for Distal Osteosclerosis

Symptoms via clinical synopsis from OMIM:

57
Skel:
craniodiaphyseal osteosclerosis

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


Clinical features from OMIM:

126250

Human phenotypes related to Distal Osteosclerosis:

32
# Description HPO Frequency HPO Source Accession
1 hyperostosis 32 HP:0100774
2 craniofacial osteosclerosis 32 HP:0005464
3 diaphyseal sclerosis 32 HP:0003034

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:

41
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 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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