MCID: DWR022
MIFTS: 10

Dwarfism, Proportionate, with Hip Dislocation

Categories: Rare diseases

Aliases & Classifications for Dwarfism, Proportionate, with Hip Dislocation

MalaCards integrated aliases for Dwarfism, Proportionate, with Hip Dislocation:

Name: Dwarfism, Proportionate, with Hip Dislocation 57
Dwarfism, Proportionate with Hip Dislocation 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dwarfism, proportionate, with hip dislocation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 223550
MedGen 42 C1857196

Summaries for Dwarfism, Proportionate, with Hip Dislocation

MalaCards based summary : Dwarfism, Proportionate, with Hip Dislocation, is also known as dwarfism, proportionate with hip dislocation. Related phenotypes are hip dislocation and severe short stature

Description from OMIM: 223550

Related Diseases for Dwarfism, Proportionate, with Hip Dislocation

Symptoms & Phenotypes for Dwarfism, Proportionate, with Hip Dislocation

Symptoms via clinical synopsis from OMIM:

57
Skel:
dislocated hips
vertebral body columnization

Growth:
proportionate dwarfism


Clinical features from OMIM:

223550

Human phenotypes related to Dwarfism, Proportionate, with Hip Dislocation:

32
# Description HPO Frequency HPO Source Accession
1 hip dislocation 32 HP:0002827
2 severe short stature 32 HP:0003510

Drugs & Therapeutics for Dwarfism, Proportionate, with Hip Dislocation

Search Clinical Trials , NIH Clinical Center for Dwarfism, Proportionate, with Hip Dislocation

Genetic Tests for Dwarfism, Proportionate, with Hip Dislocation

Anatomical Context for Dwarfism, Proportionate, with Hip Dislocation

Publications for Dwarfism, Proportionate, with Hip Dislocation

Variations for Dwarfism, Proportionate, with Hip Dislocation

Expression for Dwarfism, Proportionate, with Hip Dislocation

Search GEO for disease gene expression data for Dwarfism, Proportionate, with Hip Dislocation.

Pathways for Dwarfism, Proportionate, with Hip Dislocation

GO Terms for Dwarfism, Proportionate, with Hip Dislocation

Sources for Dwarfism, Proportionate, with Hip Dislocation

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
Content
Loading form....