MCID: AML060
MIFTS: 6

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 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant vs. multifactorial
most cases sporadic


HPO:

31
amelia and terminal transverse hemimelia:
Inheritance autosomal dominant inheritance multifactorial inheritance


External Ids:

OMIM 56 104400
MedGen 41 C1863014
SNOMED-CT via HPO 68 263681008 62588002

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:

31
# Description HPO Frequency HPO Source Accession
1 amelia 31 HP:0009827

Symptoms via clinical synopsis from OMIM:

56
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. 56
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 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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