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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
L L L- L0 L1 L6 LA LB LC LD LE LF LG LH LI LK LL LM LN LO LP LR LS LT LU LV LX LY
LE LEA LEB LEC LED LEE LEF LEG LEI LEK LEM LEN LEO LEP LER LES LET LEU LEV LEW LEX LEY

LEOPARD syndrome

[An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. ( MSH )]
UMLS (CSP) C0175704
 
Disease or Syndrome

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