Preferred Name

microcephalic osteodysplastic primordial dwarfism type II

Synonyms

osteodysplastic primordial dwarfism type II

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.

ID

http://purl.obolibrary.org/obo/DOID_0060609

database_cross_reference

MESH:C565898

ICD10CM:Q87.1

OMIM:210720

ORDO:2637

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.

has exact synonym

osteodysplastic primordial dwarfism type II

Majewski osteodysplastic primordial dwarfism type II

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0060609

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

microcephalic osteodysplastic primordial dwarfism type II

notation

DOID:0060609

prefLabel

microcephalic osteodysplastic primordial dwarfism type II

subClassOf

http://purl.obolibrary.org/obo/DOID_2256

http://purl.obolibrary.org/obo/DOID_0050737

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