Osteochondrodysplasias
Disease ID: disease_node_5766
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| Dbxref | GARD:7011, MEDDRA:10060908, MESH:D010009, MIM:309350, ORDO:1826, SNOMEDCT_US_2023_03_01:13449007, UMLS_CUI:C0025237 |
|---|---|
| Subclassof | DOID_0111782, DOID_0050735 |
| Data Source | DOID, MESH |
| Synonyms | MNS, Melnick-Needles osteodysplasty, osteodysplasty of Melnick and Needles |
| Mesh Id | D010009 |
| Mesh Label | Osteochondrodysplasias |
| Mesh Subclassof | D030342, D001848 |
| Doid Label | Melnick-Needles syndrome |
| Doid Description | An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_5766 |
| Doid Id | DOID_0111788 |
| Label | Osteochondrodysplasias |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Monogenic Disease(ID:disease_node_13360) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Otopalatodigital Syndrome Spectrum Disorder(ID:disease_node_15701) (Disease)