loading...| Preferred Name | Osteodysplasty, Melnick-Needles type | |
| Synonyms |
Melnick-Needles syndrome |
|
| Definitions |
Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2484 |
|
| database_cross_reference |
UMLS:C0025237 OMIM:309350 ICD10:Q77.8 MedDRA:10060908 |
|
| definition |
Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems. |
|
| definition_citation |
orphanet |
|
| has_exact_synonym |
Melnick-Needles syndrome |
|
| label |
Osteodysplasty, Melnick-Needles type |
|
| preferred label |
Osteodysplasty, Melnick-Needles type |
|
| prefLabel |
Osteodysplasty, Melnick-Needles type |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019027 http://www.orpha.net/ORDO/Orphanet_98638 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_2484 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_2484 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_2484 | ORDO | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_2297 | HRDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_2484 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_2484 | EFO | LOOM |