Experimental Factor Ontology

Last uploaded: December 16, 2024
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Preferred Name

obsolete neonatal adrenoleukodystrophy
Synonyms

adrenoleukodystrophy autosomal neonatal form

NALD
Definitions

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

http://purl.obolibrary.org/obo/MONDO_0018598
Obsolete

true
consider

MONDO:0019609
database_cross_reference

NCIT:C99251

SCTID:238061001

NANDO:1200761

Orphanet:44

ICD10CM:E71.511
definition

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

true
exactMatch

http://purl.obolibrary.org/obo/NCIT_C99251

http://identifiers.org/snomedct/238061001

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

http://purl.bioontology.org/ontology/ICD10CM/E71.511
has_exact_synonym

NALD
has_related_synonym

adrenoleukodystrophy autosomal neonatal form
IAO_0000231

http://purl.obolibrary.org/obo/OMO_0001000
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/3222
id

MONDO:0018598
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disorder
label

obsolete neonatal adrenoleukodystrophy
notation

MONDO:0018598
preferred label

obsolete neonatal adrenoleukodystrophy
prefLabel

obsolete neonatal adrenoleukodystrophy
see also

https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy
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