MCID: APH013
MIFTS: 6

Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual...

MalaCards integrated aliases for Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome:

Name: Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 60
Aphonia-Hearing Loss-Retinal Dystrophy-Duplicated Halluces-Intellectual Disability Syndrome 60
Aphonia-Deafness-Retinal Dystrophy-Duplicated Halluces-Intellectual Disability Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.0
Orphanet 60 ORPHA324540

Summaries for Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual...

MalaCards based summary : Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome, is also known as aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome.

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Symptoms & Phenotypes for Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual...

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Anatomical Context for Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual...

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GO Terms for Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual...

Sources for Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual...

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
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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