Menkes disease
A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
MONDO:0002917
disorder of pilosebaceous unit
excluded_subClassOf
MONDO:0019282
obsolete syndromic hair shaft abnormality (obsolete MONDO:0019282)
excluded_subClassOf
MONDO:0020189
obsolete eyebrow/eyelashes structural anomaly (obsolete MONDO:0020189)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0004689
inborn metal metabolism disorder
is_a
MONDO:0017762
disorder of copper metabolism
is_a
MD
exact
MNK
exact
Menkea syndrome
related
Menkes disease
exact
Menkes kinky hair syndrome
exact
Menkes kinky-hair syndrome
exact
Menkes syndrome
exact
Mk
exact
Trichopoliodystrophy
exact
X-linked copper deficiency
exact
copper transport disease
broad
kinky hair disease
exact
kinky hair syndrome
exact
menkes disease, X-linked recessive
exact
steely hair disease
exact
SPBC29A3.01