loading...| Preferred Name | DOORS syndrome | |
| Synonyms |
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome DOOR syndrome Hearing loss-onychoosteodystrophy-intellectual disability syndrome Autosomal recessive deafness-onychodystrophy syndrome Deafness-onychoosteodystrophy-intellectual disability syndrome Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome Autosomal recessive hearing loss-onychodystrophy syndrome Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome |
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| Definitions |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_79500 |
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| alternative_term |
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome DOOR syndrome Hearing loss-onychoosteodystrophy-intellectual disability syndrome Autosomal recessive deafness-onychodystrophy syndrome Deafness-onychoosteodystrophy-intellectual disability syndrome Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome Autosomal recessive hearing loss-onychodystrophy syndrome Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome |
|
| definition |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79500 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
UMLS:C0795934 MedDRA:10080835 ICD-10:Q87.8 OMIM:220500 ICD-11:LD27.0Y MeSH:C563052 |
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| label |
DOORS syndrome |
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| notation |
ORPHA:79500 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_79500 |
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| prefLabel |
DOORS syndrome |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 50.0 (Case) |
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| treeView | ||
| subClassOf |