Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii (MOPD2)

Alias:
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Majewski Osteodysplastic Primordial Dwarfism Type Ii
Mopd2
Osteodysplastic Primordial Dwarfism Type Ii
Mopd Type Ii
Mopdii
Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism
Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
Microcephalic Osteodysplastic Primordial Dwarfism 2
Osteodysplastic Primordial Dwarfism, Type Ii
Osteodysplastic Primordial Dwarfism Type 2
Mopd Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii, also known as microcephalic osteodysplastic primordial dwarfism type ii, is related to moyamoya disease 1 and isolated growth hormone deficiency. An important gene associated with Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii is PCNT (Pericentrin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Loss of Nlp from mitotic centrosomes. Affiliated tissues include bone and brain, and related phenotypes are delayed skeletal maturation and microcephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
--
15
80
46

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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