Preferred Name |
microcephalic osteodysplastic primordial dwarfism type II |
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Synonyms |
osteodysplastic primordial dwarfism type II |
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Definitions |
A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. |
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ID |
http://purl.obolibrary.org/obo/DOID_0060609 |
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database_cross_reference |
MESH:C565898 ICD10CM:Q87.1 OMIM:210720 ORDO:2637 |
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definition |
A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. |
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has exact synonym |
osteodysplastic primordial dwarfism type II Majewski osteodysplastic primordial dwarfism type II |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0060609 |
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in_subset | ||
label |
microcephalic osteodysplastic primordial dwarfism type II |
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notation |
DOID:0060609 |
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prefLabel |
microcephalic osteodysplastic primordial dwarfism type II |
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subClassOf |