MCID: SKL026
MIFTS: 10

Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification

Categories: Bone diseases

Aliases & Classifications for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

MalaCards integrated aliases for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification:

Name: Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
skeletal dysplasia with delayed epiphyseal and carpal bone ossification:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 182255
MedGen 43 C1866939

Summaries for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

MalaCards based summary : Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification Affiliated tissues include bone, and related phenotypes are skeletal dysplasia and short stature

Description from OMIM: 182255

Related Diseases for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

Symptoms & Phenotypes for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

Human phenotypes related to Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 skeletal dysplasia 33 HP:0002652
2 short stature 33 HP:0004322
3 cone-shaped epiphysis 33 HP:0010579
4 clinodactyly of the 5th finger 33 HP:0004209
5 short 1st metacarpal 33 HP:0010034
6 short middle phalanx of finger 33 HP:0005819
7 delayed epiphyseal ossification 33 HP:0002663
8 delayed ossification of carpal bones 33 HP:0001216
9 broad middle phalanx of finger 33 HP:0009844

Symptoms via clinical synopsis from OMIM:

58
Skel:
skeletal dysplasia

Radiology:
cone-shaped epiphyses
delayed epiphyseal and carpal bone ossification

Growth:
short stature

Limbs:
short first metacarpals
bilateral fifth digit clinodactyly
abnormally short and broad middle phalanges

Clinical features from OMIM:

182255

Drugs & Therapeutics for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

Search Clinical Trials , NIH Clinical Center for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification

Genetic Tests for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

Anatomical Context for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

MalaCards organs/tissues related to Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification:

42
Bone

Publications for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

Variations for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

Expression for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

Search GEO for disease gene expression data for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification.

Pathways for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

GO Terms for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

Sources for Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone...

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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