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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
autosomal recessive cutis laxa type IIA  
autosomal recessive cutis laxa type IIB  
A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. (DO)
autosomal recessive cutis laxa type IIC  
autosomal recessive cutis laxa type IID  
Autosomal Recessive Cutis Laxa Type IIE  

Synonyms
Exact Synonyms: ARCL2, progeroid type ;   ARCL2B ;   Cutis Laxa With Progeroid Features ;   autosomal recessive cutis laxa type 2B
Broad Synonyms: PYCR1-RELATED CONDITION
Primary IDs: MESH:C567855
Alternate IDs: OMIM:612940
Xrefs: ORDO:357064
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19576563 "DO" "DO"

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