loading...| Preferred Name | otopalatodigital syndrome spectrum disorder | |
| Synonyms |
OPD spectrum disorder OPSD |
|
| Definitions |
Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0018233 |
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| database_cross_reference |
MEDGEN:411701 UMLS:C2748918 Orphanet:364541 DOID:0111782 GARD:21570 |
|
| definition |
Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
|
| has_exact_synonym |
OPD spectrum disorder OPSD |
|
| id |
MONDO:0018233 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
otopalatodigital syndrome spectrum disorder |
|
| notation |
MONDO:0018233 |
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| preferred label |
otopalatodigital syndrome spectrum disorder |
|
| prefLabel |
otopalatodigital syndrome spectrum disorder |
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| skos_exactMatch |
http://identifiers.org/medgen/411701 http://linkedlifedata.com/resource/umls/id/C2748918 |
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| subClassOf |