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microcephalic osteodysplastic primordial dwarfism type II

^ http://purl.obolibrary.org/obo/MONDO_0008872

A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. [ Orphanet:2637 https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • DOID:0060609 (MONDO:equivalentTo)
  • Orphanet:2637 (OMIM:210720)
  • MESH:C565898 (MONDO:equivalentTo)
  • OMIM:210720 (Orphanet:2637/e)
  • GARD:0009844 (MONDO:equivalentTo)
  • SCTID:254103003 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
MOPD2 [ OMIM:210720 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

definition

A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.

exactMatch

https://omim.org/entry/210720, http://identifiers.org/mesh/C565898, http://purl.obolibrary.org/obo/Orphanet_2637, http://identifiers.org/snomedct/254103003, http://purl.obolibrary.org/obo/DOID_0060609

has exact synonym

MOPD type II, Majewski osteodysplastic primordial dwarfism type II, osteodysplastic primordial dwarfism type II

has related synonym

osteodysplastic primordial dwarfism, type 2, microcephalic osteodysplastic primordial dwarfism, type II, osteodysplastic primordial dwarfism type 2, microcephalic osteodysplastic primordial dwarfism with tooth abnormalities, Mopd 2, microcephalic osteodysplastic primordial dwarfism, type 2, microcephalic osteodysplastic primordial dwarfism type 2, MOPD2, MOPD II

id

MONDO:0008872

seeAlso

https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2