Preferred Name |
Melnick-Needles syndrome |
|
Synonyms |
Melnick-Needles syndrome Melnick-Needles osteodysplasty Melnick-Needles syndrome, X-linked dominant MELNICK-NEEDLES syndrome osteodysplasty of Melnick and Needles MNS |
|
Definitions |
A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0010650 |
|
has_exact_synonym |
Melnick-Needles syndrome Melnick-Needles osteodysplasty Melnick-Needles syndrome, X-linked dominant |
|
has_related_synonym |
MELNICK-NEEDLES syndrome osteodysplasty of Melnick and Needles MNS |
|
IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5588 |
|
label |
Melnick-Needles syndrome |
|
prefixIRI |
MONDO:0010650 |
|
prefLabel |
Melnick-Needles syndrome |
|
seeAlso |
https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome |
|
textual definition |
A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. |
|
subClassOf |