MCID: FRN052
MIFTS: 11

Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

MalaCards integrated aliases for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome:

Name: Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

MalaCards based summary : Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome Affiliated tissues include bone, and related phenotypes are hypertelorism and wide nasal bridge

Related Diseases for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Symptoms & Phenotypes for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Human phenotypes related to Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
2 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
3 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
4 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
5 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
6 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
7 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
8 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
9 almond-shaped palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0007874
10 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
11 bifid nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000456
12 abnormality of the nasal bone 58 31 frequent (33%) Frequent (79-30%) HP:0010939
13 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
14 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
15 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
16 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
17 oligodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012165
18 frontal encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0007330
19 clinodactyly of the 3rd toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0008115
20 intellectual disability 58 Excluded (0%)
21 abnormality of the hand 58 Frequent (79-30%)
22 abnormality of the upper limb 58 Frequent (79-30%)

Drugs & Therapeutics for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Genetic Tests for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Anatomical Context for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

MalaCards organs/tissues related to Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome:

40
Bone

Publications for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Variations for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Expression for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Search GEO for disease gene expression data for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome.

Pathways for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

GO Terms for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

Sources for Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome

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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