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microcephalic osteodysplastic primordial dwarfism type I

Go to external page http://purl.obolibrary.org/obo/DOID_0060608

An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/22302400 url:http://omim.org/entry/210710 ]

Synonyms: Taybi-Linder syndrome cephaloskeletal dysplasia low-birth-weight dwarfism with skeletal dysplasia brachymelic primordial dwarfism osteodysplastic primordial dwarfism type I

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:210710
  • MESH:C537577
  • ICD10CM:Q87.1
  • ORDO:2636
  • GARD:5120
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0060608