MCID: CHN066
MIFTS: 10

Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density

Categories: Bone diseases

Aliases & Classifications for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

MalaCards integrated aliases for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density:

Name: Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
neonatal lethal


HPO:

31
chondrodysplasia, lethal, with long bone angulation and mixed bone density:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 601376
MedGen 41 C1832410

Summaries for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

MalaCards based summary : Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density Affiliated tissues include bone, and related phenotypes are hypoplasia of the ulna and disproportionate short-limb short stature

More information from OMIM: 601376

Related Diseases for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

Symptoms & Phenotypes for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

Human phenotypes related to Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the ulna 31 HP:0003022
2 disproportionate short-limb short stature 31 HP:0008873
3 hypoplasia of the radius 31 HP:0002984
4 fibular hypoplasia 31 HP:0003038
5 short tibia 31 HP:0005736
6 short femur 31 HP:0003097
7 absent ossification of calvaria 31 HP:0005623
8 sclerotic scapulae 31 HP:0001474
9 lytic defects of humeral diaphysis 31 HP:0003930
10 lumbar platyspondyly 31 HP:0005787
11 mixed sclerosis of humeral metaphyses 31 HP:0005825
12 absent ossification of cervical vertebral bodies 31 HP:0005885
13 absent ossification of thoracic vertebral bodies 31 HP:0012792

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
sclerotic scapulae

Skeletal Limbs:
mixed sclerosis of humeral metaphyses
short angulated ulnae
short angulated radii
short angulated femora
short angulated tibiae
more
Skeletal Skull:
absent ossification of skull vault

Skeletal Spine:
lumbar platyspondyly
absent ossification of cervical vertebral bodies
absent ossification of thoracic vertebral bodies

Growth Height:
short limb dwarfism

Skeletal Pelvis:
sclerotic iliac bones

Clinical features from OMIM:

601376

Drugs & Therapeutics for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density

Genetic Tests for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

Anatomical Context for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

MalaCards organs/tissues related to Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density:

40
Bone

Publications for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

Articles related to Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density:

# Title Authors PMID Year
1
A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density. 56
8818449 1996

Variations for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

Expression for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

Search GEO for disease gene expression data for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density.

Pathways for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

GO Terms for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

Sources for Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed...

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
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