loading...| Preferred Name | otopalatodigital syndrome | |
| Synonyms |
type 2 (Andre syndrome) oto-palatal-digital syndrome oto-palato-digital 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019027 |
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| database_cross_reference |
Orphanet:669 SCTID:767130007 UMLS:CN205496 |
|
| 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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| exactMatch | ||
| has_exact_synonym |
oto-palatal-digital syndrome oto-palato-digital syndrome |
|
| has_narrow_synonym |
type 2 (Andre syndrome) |
|
| id |
MONDO:0019027 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
otopalatodigital syndrome |
|
| notation |
MONDO:0019027 |
|
| preferred label |
otopalatodigital syndrome |
|
| prefLabel |
otopalatodigital syndrome |
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| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015501 http://purl.obolibrary.org/obo/MONDO_0015334 |
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| subClassOf |