autosomal recessive cutis laxa type IIIA - Ontology Browser

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autosomal recessive cutis laxa type IIIA (DOID:0070132)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)

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autosomal recessive cutis laxa type IIIA

A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)

autosomal recessive cutis laxa type IIIB

Synonyms
Exact Synonyms:	ARCL3A ; CUTIS LAXA-CORNEAL CLOUDING-OLIGOPHRENIA SYNDROME ; DE BARSY SYNDROME A
Xrefs:	MIM:219150 ; MONDO:0009053 ; ORDO:35664
Definition Sources:	PMID:11092761 "DO" "DO"

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