MCID: SKL026
MIFTS: 7

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
skeletal dysplasia with delayed epiphyseal and carpal bone ossification:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 182255
MedGen 42 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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 skeletal dysplasia 32 HP:0002652
2 short stature 32 HP:0004322
3 cone-shaped epiphysis 32 HP:0010579
4 clinodactyly of the 5th finger 32 HP:0004209
5 short 1st metacarpal 32 HP:0010034
6 short middle phalanx of finger 32 HP:0005819
7 delayed ossification of carpal bones 32 HP:0001216
8 delayed epiphyseal ossification 32 HP:0002663
9 broad middle phalanx of finger 32 HP:0009844

Symptoms via clinical synopsis from OMIM:

57
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:

41
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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