MCID: CNG053
MIFTS: 10

Congenital Amputation

Categories: Rare diseases

Aliases & Classifications for Congenital Amputation

MalaCards integrated aliases for Congenital Amputation:

Name: Congenital Amputation 54
Amputation, Congenital 74

Classifications:



External Ids:

UMLS 74 C1857583

Summaries for Congenital Amputation

MalaCards based summary : Congenital Amputation, also known as amputation, congenital, is related to acheiropody and chromosome 2q35 duplication syndrome. Affiliated tissues include bone.

Wikipedia : 77 Congenital amputation is birth without a limb or limbs, or without a part of a limb or... more...

Related Diseases for Congenital Amputation

Diseases related to Congenital Amputation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acheiropody 11.3
2 chromosome 2q35 duplication syndrome 9.7

Symptoms & Phenotypes for Congenital Amputation

Drugs & Therapeutics for Congenital Amputation

Search Clinical Trials , NIH Clinical Center for Congenital Amputation

Genetic Tests for Congenital Amputation

Anatomical Context for Congenital Amputation

MalaCards organs/tissues related to Congenital Amputation:

42
Bone

Publications for Congenital Amputation

Articles related to Congenital Amputation:

(show all 12)
# Title Authors Year
1
A child with congenital amputation of the foot. ( 23974462 )
2013
2
Congenital amputation involving the hands and feet: a case report. ( 19048767 )
2008
3
Operative treatment of bone overgrowth in children who have an aquired or congenital amputation. ( 8753723 )
1996
4
Operative treatment of bone overgrowth in children who have an acquired or congenital amputation. ( 7593057 )
1995
5
Reconstruction of traumatic or congenital amputation of the thumb by distraction-lengthening. ( 1572925 )
1992
6
Distraction osteogenesis of a congenital amputation at the elbow. ( 2584654 )
1989
7
Congenital familial hypoplastic thumb associated with congenital amputation of the toe. ( 6725903 )
1984
8
Congenital amputation of the toes with replantation at the site of a constriction band in the mid-calf. Case report. ( 622422 )
1978
9
Congenital constricting bands and congenital amputation of the fingers: placental studies. ( 4760088 )
1973
10
Intellectual functioning of children with congenital amputation. ( 5241259 )
1968
11
Congenital amputation. ( 5651745 )
1968
12
Congenital amputation of the forearm. ( 14362384 )
1955

Variations for Congenital Amputation

Expression for Congenital Amputation

Search GEO for disease gene expression data for Congenital Amputation.

Pathways for Congenital Amputation

GO Terms for Congenital Amputation

Sources for Congenital Amputation

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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