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MCID: MSM006
MIFTS: 9

Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

Categories: Rare diseases
Publications Symptoms & Phenotypes
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Aliases & Classifications for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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MalaCards integrated aliases for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type:

Name: Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
mesomelic dwarfism of hypoplastic tibia and radius type:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 156230
MedGen 41 C1835010
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Summaries for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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MalaCards based summary : Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type Related phenotypes are neonatal short-limb short stature and hypoplasia of the radius

More information from OMIM: 156230
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Related Diseases for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Symptoms & Phenotypes for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Human phenotypes related to Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type:

31
# Description HPO Frequency HPO Source Accession
1 neonatal short-limb short stature 31 HP:0008921
2 hypoplasia of the radius 31 HP:0002984
3 short tibia 31 HP:0005736
4 mesomelic short stature 31 HP:0008845
5 pseudoarthrosis 31 HP:0005864

Symptoms via clinical synopsis from OMIM:

56
Limbs:
pseudoarthrosis
hypoplastic tibia
hypoplastic radius

Growth:
short-limb dwarfism identifiable at birth

Head:
normocephaly

Facies:
normal facies

Clinical features from OMIM:

156230
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Drugs & Therapeutics for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Search Clinical Trials , NIH Clinical Center for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Genetic Tests for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Anatomical Context for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Publications for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Articles related to Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type:

# Title Authors PMID Year
1
Dominant mesomelic dwarfism of the hypoplastic tibia, radius type. 56
1126050 1975
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Variations for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Expression for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Search GEO for disease gene expression data for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type.
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Pathways for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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GO Terms for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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Sources for Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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