Experimental Factor Ontology

Last uploaded: December 16, 2024
Jump to:
Preferred Name

obsolete_Neonatal adrenoleukodystrophy
Synonyms

NALD
Definitions

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).
ID

http://www.orpha.net/ORDO/Orphanet_44
Obsolete

true
database_cross_reference

OMIM:614920

OMIM:202370

OMIM:614867

OMIM:614863

OMIM:614885

UMLS:C0282525

OMIM:617370

ICD10:E71.3

OMIM:601539

OMIM:614877

OMIM:614871

OMIM:614873

OMIM:266510

MeSH:D018901
definition

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).
definition_citation

orphanet
deprecated

true
has_exact_synonym

NALD
label

obsolete_Neonatal adrenoleukodystrophy
obsoleted_in_version

3.41.0
preferred label

obsolete_Neonatal adrenoleukodystrophy
prefLabel

obsolete_Neonatal adrenoleukodystrophy
reason_for_obsolescence

Replaced with Mondo term.
term replaced by

http://purl.obolibrary.org/obo/MONDO_0019609
subClassOf

http://www.w3.org/2002/07/owl#Thing
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display