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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Id | http://purl.obolibrary.org/obo/MONDO_0019027
http://purl.obolibrary.org/obo/MONDO_0019027
|
|---|---|
| Preferred Name | otopalatodigital syndrome |
| Definitions |
A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.
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| Synonyms |
type 2 (Andre syndrome)
oto-palatal-digital syndrome
oto-palato-digital syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. |
|---|---|
| altLabel |
type 2 (Andre syndrome)
oto-palatal-digital syndrome
oto-palato-digital syndrome
|
| label |
otopalatodigital syndrome
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| prefLabel |
otopalatodigital syndrome
|
| has_narrow_synonym |
type 2 (Andre syndrome)
|
| prefixIRI |
MONDO:0019027
|
| textual definition |
A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.
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| subClassOf | |
| type | |
| has_exact_synonym |
oto-palatal-digital syndrome
oto-palato-digital syndrome
|
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