MCID: ERL045
MIFTS: 9

Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities

Categories: Ear diseases
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Aliases & Classifications for Earlobes, Thickened, with Conductive Deafness from...

MalaCards integrated aliases for Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities:

Name: Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 128980
MedGen 40 C1851896
SNOMED-CT via HPO 69 194417009 253255002 32958008

Summaries for Earlobes, Thickened, with Conductive Deafness from...

MalaCards based summary: Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities Related phenotypes are micrognathia and abnormality of the malleus

More information from OMIM: 128980

Related Diseases for Earlobes, Thickened, with Conductive Deafness from...

Symptoms & Phenotypes for Earlobes, Thickened, with Conductive Deafness from...

Human phenotypes related to Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 30 HP:0000347
2 abnormality of the malleus 30 HP:0011454
3 bilateral conductive hearing impairment 30 HP:0008513
4 congenital conductive hearing impairment 30 HP:0008591
5 abnormal pinna morphology 30 HP:0000377
6 absent stapes head 30 HP:0200111

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Ears:
absent stapes head
thickened earlobes
congenital conductive deafness
curvature of long crus of incus

Clinical features from OMIM®:

128980 (Updated 24-Oct-2022)

Drugs & Therapeutics for Earlobes, Thickened, with Conductive Deafness from...

Search Clinical Trials, NIH Clinical Center for Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities

Genetic Tests for Earlobes, Thickened, with Conductive Deafness from...

Anatomical Context for Earlobes, Thickened, with Conductive Deafness from...

Publications for Earlobes, Thickened, with Conductive Deafness from...

Articles related to Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities:

# Title Authors PMID Year
1
Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia. A rare autosomal dominant congenital syndrome. 57
6476090 1984
2
Hereditary conductive deafness due to incus-stapes abnormalities and associated with pinna deformity. 57
5428055 1970
3
Dominant hereditary conductive deafness through lack of incus-stapes junction. 57
5657116 1968

Variations for Earlobes, Thickened, with Conductive Deafness from...

Expression for Earlobes, Thickened, with Conductive Deafness from...

Search GEO for disease gene expression data for Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities.

Pathways for Earlobes, Thickened, with Conductive Deafness from...

GO Terms for Earlobes, Thickened, with Conductive Deafness from...

Sources for Earlobes, Thickened, with Conductive Deafness from...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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