MCID: DWR022
MIFTS: 8

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 58
Dwarfism, Proportionate with Hip Dislocation 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
dwarfism, proportionate, with hip dislocation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 223550
MedGen 43 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

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

33
# Description HPO Frequency HPO Source Accession
1 hip dislocation 33 HP:0002827
2 severe short stature 33 HP:0003510

Symptoms via clinical synopsis from OMIM:

58
Skel:
dislocated hips
vertebral body columnization

Growth:
proportionate dwarfism

Clinical features from OMIM:

223550

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 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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