loading...| Preferred Name |
Microcephalic osteodysplastic primordial dwarfism, type 1 |
|
| Synonyms |
Taybi-Linder Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537577 |
|
| altLabel |
Taybi-Linder Syndrome Cephaloskeletal dysplasia Mopd Low-birth-weight dwarfism with skeletal dysplasia Mopd1 Osteodysplastic primordial dwarfism, type 1 Osteodysplastic Primordial Dwarfism, Type I Taybi Linder syndrome Microcephalic Osteodysplastic Primordial Dwarfism, Type I Mopd 1 MopdI Mopd I Brachymelic primordial dwarfism |
|
| cui |
C1859452 |
|
| HM |
D005317 D010009 D008831 D004392 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D008831 http://purl.bioontology.org/ontology/MESH/D004392 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
30 |
|
| MMR |
20150927 |
|
| notation |
C537577 |
|
| prefLabel |
Microcephalic osteodysplastic primordial dwarfism, type 1 |
|
| SC |
3 |
|
| Scope Statement |
A severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including INTELLECTUAL DISABILITY, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood. Mutations in the RNU4ATAC gene have been identified. OMIM: 210710 |
|
| TERMUI |
T000885667 T807586 T807589 T000885664 T000885665 T807587 T743052 T743051 T743054 T743055 T743053 T000885668 T000885666 T743050 |
|
| TH |
OMIM (2013) OMIM (2016) ORD (2010) |
|
| tui |
T019 |