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UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
H H+ H1 HA HB HC HD HE HF HG HH HI HK HL HM HN HO HP HQ HR HS HT HU HV HX HY HZ
HU HUA HUB HUG HUH HUI HUM HUN HUP HUR HUS HUT

Hutchinson Gilford syndrome

[An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA. ( MSH )]
UMLS (CSP) C0033300
 
Disease or Syndrome
Relation/PAR: Congenital Metabolic Disorder

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