MCID: PHC009
MIFTS: 12

Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

MalaCards integrated aliases for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia:

Name: Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 20
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome 20 29
Stoll-Levy-Francfort Syndrome 20
Stoll-Lévy-Francfort Syndrome 20
Stoll Levy Francfort Syndrome 70

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

MalaCards based summary : Phocomelia Ectrodactyly Deafness Sinus Arrhythmia, also known as phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome, is related to phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia. Related phenotypes are microtia and abnormal nasal morphology

Related Diseases for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Diseases related to Phocomelia Ectrodactyly Deafness Sinus Arrhythmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 11.5

Symptoms & Phenotypes for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Human phenotypes related to Phocomelia Ectrodactyly Deafness Sinus Arrhythmia:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 microtia 31 hallmark (90%) HP:0008551
2 abnormal nasal morphology 31 hallmark (90%) HP:0005105
3 arrhythmia 31 hallmark (90%) HP:0011675
4 conductive hearing impairment 31 hallmark (90%) HP:0000405
5 aplasia/hypoplasia of the earlobes 31 hallmark (90%) HP:0009906
6 long philtrum 31 hallmark (90%) HP:0000343
7 deep philtrum 31 hallmark (90%) HP:0002002
8 stenosis of the external auditory canal 31 hallmark (90%) HP:0000402
9 hypoplasia of the ulna 31 hallmark (90%) HP:0003022
10 aplasia/hypoplasia of the thumb 31 hallmark (90%) HP:0009601
11 ectrodactyly 31 hallmark (90%) HP:0100257
12 abnormality of the wrist 31 hallmark (90%) HP:0003019
13 abnormality of the antitragus 31 hallmark (90%) HP:0009896
14 ulnar bowing 31 hallmark (90%) HP:0003031
15 upper limb phocomelia 31 hallmark (90%) HP:0009813
16 short humerus 31 hallmark (90%) HP:0005792
17 abnormality of the nares 31 hallmark (90%) HP:0005288
18 asymmetric radial dysplasia 31 hallmark (90%) HP:0006420
19 short 2nd metacarpal 31 hallmark (90%) HP:0010038
20 abnormality of dental morphology 31 frequent (33%) HP:0006482
21 radial club hand 31 frequent (33%) HP:0004059

Drugs & Therapeutics for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Search Clinical Trials , NIH Clinical Center for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Genetic Tests for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Genetic tests related to Phocomelia Ectrodactyly Deafness Sinus Arrhythmia:

# Genetic test Affiliating Genes
1 Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome 29

Anatomical Context for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Publications for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Variations for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Expression for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Search GEO for disease gene expression data for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia.

Pathways for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

GO Terms for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

Sources for Phocomelia Ectrodactyly Deafness Sinus Arrhythmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....