Disease Term Disease ID Gene Symbol References
Hypertrichosis C0020555 BCS1L
BLM
CTSC
COX10
COX15
CPOX
ECHS1
GATA1
GLB1
HNRNPK
IDS
INSR
KCNJ11
LTBP3
MAN2B1
KMT2A
NAGLU
NDUFA2
NDUFA4
NDUFA9
NDUFA10
NDUFB8
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS8
NDUFV2
PDHA1
SDHA
SMARCA4
SMARCB1
SMO
SOX11
SURF1
TP53
UROS
USP9X
ARID1A
GNA14
TMEM94
SCO2
ABCC9
HUWE1
TRAIP
TLK2
PUF60
RAB18
ABCA5
NDUFAF3
SETBP1
SLC25A24
KCNK4 30290154
NDUFA13
TACO1
LIPT1
RNF125
SLC29A3 20140240, 19336477
FOXRED1
NDUFA12
ARID1B
IRF2BPL
NDUFAF5
SRD5A3
SLC19A3
NDUFAF2
COG7
NUS1
TWIST2
MTFMT
GJB4
VPS37A
NDUFAF6
ASXL1
NDUFS7
PET100
HYPERTRICHOSIS, CONGENITAL GENERALIZED C1855900 KMT2A
SOX3 21636067
SMC1A
ABCC9
ABCA5
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia C1851120 ABCA5 24831815