MCID: SKL026
MIFTS: 8

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 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
skeletal dysplasia with delayed epiphyseal and carpal bone ossification:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 182255
MedGen 41 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

More information 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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 skeletal dysplasia 31 HP:0002652
2 short stature 31 HP:0004322
3 cone-shaped epiphysis 31 HP:0010579
4 clinodactyly of the 5th finger 31 HP:0004209
5 short 1st metacarpal 31 HP:0010034
6 short middle phalanx of finger 31 HP:0005819
7 delayed ossification of carpal bones 31 HP:0001216
8 delayed epiphyseal ossification 31 HP:0002663
9 broad middle phalanx of finger 31 HP:0009844

Symptoms via clinical synopsis from OMIM:

56
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:

40
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
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
Content
Loading form....