loading...| Preferred Name |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II |
|
| Synonyms |
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C565898 |
|
| altLabel |
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities Microcephalic osteodysplastic primordial dwarfism, type 2 Osteodysplastic primordial dwarfism, type 2 Microcephalic Osteodysplastic Primordial Dwarfism Type II Mopd2 Osteodysplastic Primordial Dwarfism Type Ii Majewski Osteodysplastic Primordial Dwarfism Type II Osteodysplastic Primordial Dwarfism, Type II MOPD II MopdII |
|
| cui |
C0432246 C3502214 |
|
| 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 |
20121105 |
|
| MeSH Frequency |
33 |
|
| MMR |
20150927 |
|
| notation |
C565898 |
|
| prefLabel |
Microcephalic Osteodysplastic Primordial Dwarfism, Type II |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal recessive disorder characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (OMIM: 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild INTELLECTUAL DISABILITY. Mutations in the PCNT gene have been identified. OMIM: 210720 |
|
| TERMUI |
T824394 T000885648 T824397 T846232 T842006 T846234 T842008 T829557 T846233 T743061 T743058 |
|
| TH |
OMIM (2013) NLM (1981) GHR (2014) ORD (2010) |
|
| tui |
T047 |