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Entry Name Description Category Pathway Gene
H01005 Dopamine beta-hydroxylase deficiency
Norepinephrine deficiency
Noradrenaline deficiency 		Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series ... Nervous system disease DBH [HSA:1621] [KO:K00503]
H02132 Microcephaly syndrome Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly ... Congenital malformation (MCPHSBA) MED17 [HSA:9440] [KO:K15133]
(MSCCA) QARS [HSA:5859] [KO:K01886]
(MCCPD) MSMO1 [HSA:6307] [KO:K07750]
(MEDS1) IER3IP1 [HSA:51124] [KO:K22939]
(MEDS2) YIPF5 [HSA:81555] [KO:K20363]
(MIMIS) DONSON [HSA:29980] [KO:K22422]
(MSSP) RTTN [HSA:25914] [KO:K16484]
(MFRG) CTU2 [HSA:348180] [KO:K14169]
(MCIDDS) KCNA4 [HSA:3739] [KO:K04877]
(MIGSB) WDR4 [HSA:10785] [KO:K15443]
(MDBH) CARS1 [HSA:833] [KO:K01883]
H02751 Orthostatic hypotension Orthostatic hypotension (ORTHYP) is caused by an excessive fall of cardiac output or by defective or inadequate vasoconstrictor mechanisms. Characteristic symptoms include lightheadedness, dizziness, and ... Cardiovascular disease (ORTHYP1) DBH [HSA:1621] [KO:K00503]
(ORTHYP2) CYB561 [HSA:1534] [KO:K08360]
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