MCID: ARM008
MIFTS: 7

Arms, Malformation of

Aliases & Classifications for Arms, Malformation of

MalaCards integrated aliases for Arms, Malformation of:

Name: Arms, Malformation of 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arms, malformation of:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 107900
MedGen 42 C1862534

Summaries for Arms, Malformation of

MalaCards based summary : Arms, Malformation of Related phenotypes are radioulnar synostosis and hypoplasia of the ulna

Description from OMIM: 107900

Related Diseases for Arms, Malformation of

Symptoms & Phenotypes for Arms, Malformation of

Symptoms via clinical synopsis from OMIM:

57
Limbs:
short, absent or partially fused radius and ulna
abnormal digits


Clinical features from OMIM:

107900

Human phenotypes related to Arms, Malformation of:

32
# Description HPO Frequency HPO Source Accession
1 radioulnar synostosis 32 HP:0002974
2 hypoplasia of the ulna 32 HP:0003022
3 hypoplasia of the radius 32 HP:0002984

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GO Terms for Arms, Malformation of

Sources for Arms, Malformation of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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