Preferred Name

otopalatodigital syndrome type 1
Synonyms

OPD syndrome

frontootopalatodigital osteodysplasia

otopalatodigital spectrum disorder

OPD1

OPD syndrome 1

oto-palato-digital syndrome type 1

OPD I syndrome

otopalatodigital syndrome, type 1

OPD 1 syndrome

otopalatodigital syndrome, type I, X-linked dominant

Taybi syndrome

otopalatodigital syndrome, type I

Definitions

The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

ID

http://purl.obolibrary.org/obo/MONDO_0010704

altLabel

OPD syndrome

frontootopalatodigital osteodysplasia

otopalatodigital spectrum disorder

OPD1

OPD syndrome 1

oto-palato-digital syndrome type 1

OPD I syndrome

otopalatodigital syndrome, type 1

OPD 1 syndrome

otopalatodigital syndrome, type I, X-linked dominant

Taybi syndrome

otopalatodigital syndrome, type I

definition

The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

has_exact_synonym

OPD1

OPD syndrome 1

oto-palato-digital syndrome type 1

OPD I syndrome

otopalatodigital syndrome, type 1

OPD 1 syndrome

otopalatodigital syndrome, type I, X-linked dominant

Taybi syndrome

otopalatodigital syndrome, type I

has_related_synonym

OPD syndrome

frontootopalatodigital osteodysplasia

otopalatodigital spectrum disorder

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/4948

label

otopalatodigital syndrome type 1

prefixIRI

MONDO:0010704

prefLabel

otopalatodigital syndrome type 1

textual definition

The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019027

http://purl.obolibrary.org/obo/MONDO_0002254

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