MCID: AML060
MIFTS: 5

Amelia and Terminal Transverse Hemimelia

Aliases & Classifications for Amelia and Terminal Transverse Hemimelia

MalaCards integrated aliases for Amelia and Terminal Transverse Hemimelia:

Name: Amelia and Terminal Transverse Hemimelia 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant vs. multifactorial
most cases sporadic


HPO:

32
amelia and terminal transverse hemimelia:
Inheritance autosomal dominant inheritance multifactorial inheritance


External Ids:

OMIM 57 104400
MedGen 42 C1863014

Summaries for Amelia and Terminal Transverse Hemimelia

MalaCards based summary : Amelia and Terminal Transverse Hemimelia Related phenotype is amelia.

More information from OMIM: 104400

Related Diseases for Amelia and Terminal Transverse Hemimelia

Symptoms & Phenotypes for Amelia and Terminal Transverse Hemimelia

Human phenotypes related to Amelia and Terminal Transverse Hemimelia:

32
# Description HPO Frequency HPO Source Accession
1 amelia 32 HP:0009827

Symptoms via clinical synopsis from OMIM:

57
Limbs:
amelia
terminal transverse hemimelia

Clinical features from OMIM:

104400

Drugs & Therapeutics for Amelia and Terminal Transverse Hemimelia

Search Clinical Trials , NIH Clinical Center for Amelia and Terminal Transverse Hemimelia

Genetic Tests for Amelia and Terminal Transverse Hemimelia

Anatomical Context for Amelia and Terminal Transverse Hemimelia

Publications for Amelia and Terminal Transverse Hemimelia

Articles related to Amelia and Terminal Transverse Hemimelia:

# Title Authors PMID Year
1
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. 8
22002956 2011

Variations for Amelia and Terminal Transverse Hemimelia

Expression for Amelia and Terminal Transverse Hemimelia

Search GEO for disease gene expression data for Amelia and Terminal Transverse Hemimelia.

Pathways for Amelia and Terminal Transverse Hemimelia

GO Terms for Amelia and Terminal Transverse Hemimelia

Sources for Amelia and Terminal Transverse Hemimelia

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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