Rare disease reference — Atlas Médico

Hereditary spastic paraplegia 47

Definition

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.

MONDO:0013551 · Mondo Disease Ontology · CC BY 4.0

Also known as AP4B1 hereditary spastic paraplegia, hereditary spastic paraplegia 47, hereditary spastic paraplegia caused by mutation in AP4B1, hereditary spastic paraplegia type 47, Spastic Paraplegia 47, SPG47 — per MONDO

Also identified as

DOID 0110799 per MONDO
NCIT C164224 per MONDO
OMIM 614066 per MONDO
UMLS C3279738 per MONDO

Affected Organs

Organ	Involvement	Source
Central nervous system	Disease Has Associated Anatomic Site	NCIT · CC BY 4.0
Central nervous system	Disease Has Primary Anatomic Site	NCIT · CC BY 4.0
Nervous system	Disease Has Associated Anatomic Site	NCIT · CC BY 4.0
Nervous system	Disease Has Primary Anatomic Site	NCIT · CC BY 4.0