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02_Study_Notes
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63_other_genodermatoses
63_other_genodermatoses
24 items under this folder.
Aug 14, 2026
緒論(Introduction)
皮膚科
genodermatoses
enzyme_deficiency
premature_aging
ectodermal_dysplasia
Aug 14, 2026
多發性內分泌腫瘤(MULTIPLE ENDOCRINE NEOPLASIA)
皮膚科
multiple_endocrine_neoplasia
angiofibroma
collagenoma
mucosal_neuroma
ret
genodermatoses
Aug 14, 2026
PTEN 錯構瘤腫瘤症候群,包括 Cowden syndrome(PTEN HAMARTOMA TUMOR SYNDROME, INCLUDING COWDEN SYNDROME)
皮膚科
pten_hamartoma_tumor_syndrome
cowden_syndrome
tricholemmoma
sclerotic_fibroma
cancer_surveillance
mtor
genodermatoses
Aug 14, 2026
Gardner syndrome(家族性腺瘤性息肉症的變異型)(GARDNER SYNDROME [VARIANT OF FAMILIAL ADENOMATOUS POLYPOSIS])
皮膚科
gardner_syndrome
familial_adenomatous_polyposis
apc
epidermoid_cyst
desmoid_tumor
osteoma
genodermatoses
Aug 14, 2026
Muir–Torre syndrome(Lynch syndrome 的變異型)(MUIR–TORRE SYNDROME [VARIANT OF LYNCH SYNDROME])
皮膚科
muir_torre_syndrome
lynch_syndrome
sebaceous_neoplasm
keratoacanthoma
mismatch_repair
microsatellite_instability
genodermatoses
Aug 14, 2026
黑尿症(ALKAPTONURIA)
皮膚科
alkaptonuria
ochronosis
homogentisic_acid
nitisinone
genodermatoses
Aug 14, 2026
生物素酶與全羧化酶合成酶缺乏症(BIOTINIDASE AND HOLOCARBOXYLASE SYNTHETASE DEFICIENCIES)
皮膚科
biotinidase_deficiency
holocarboxylase_synthetase_deficiency
multiple_carboxylase_deficiency
nutritional_dermatitis
biotin
genodermatoses
Aug 14, 2026
Fabry disease(法布瑞氏症)(FABRY DISEASE)
皮膚科
fabry_disease
angiokeratoma
lysosomal_storage_disorder
gla
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
岩藻醣苷貯積症(FUCOSIDOSIS)
皮膚科
fucosidosis
angiokeratoma
lysosomal_storage_disorder
fuca1
genodermatoses
Aug 14, 2026
高雪氏症(GAUCHER DISEASE)
皮膚科
gaucher_disease
lysosomal_storage_disorder
glucocerebrosidase
collodion_baby
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
Hartnup disease(哈特努普病)(HARTNUP DISEASE)
皮膚科
hartnup_disease
photosensitivity
pellagra_like
slc6a19
nicotinamide
genodermatoses
Aug 14, 2026
粒線體疾病(MITOCHONDRIAL DISORDERS)
皮膚科
mitochondrial_disorders
respiratory_chain
oxidative_phosphorylation
hair_shaft_anomalies
genodermatoses
Aug 14, 2026
酸性鞘磷脂酶缺乏症(Niemann–Pick disease)(ACID SPHINGOMYELINASE DEFICIENCY [NIEMANN–PICK DISEASE])
皮膚科
niemann_pick_disease
acid_sphingomyelinase_deficiency
lysosomal_storage_disorder
olipudase_alfa
genodermatoses
Aug 14, 2026
苯酮尿症(PHENYLKETONURIA)
皮膚科
phenylketonuria
phenylalanine_hydroxylase
pigmentary_dilution
sclerodermoid
newborn_screening
genodermatoses
Aug 14, 2026
早老症候群與皮膚異色症(PREMATURE AGING SYNDROMES AND POIKILODERMAS)
皮膚科
progeroid_syndromes
poikiloderma
rothmund_thomson_syndrome
kindler_syndrome
genodermatoses
Aug 14, 2026
Hutchinson–Gilford progeria syndrome(早老症)(HUTCHINSON–GILFORD PROGERIA SYNDROME)
皮膚科
hutchinson_gilford_progeria_syndrome
lmna
progerin
lonafarnib
farnesyltransferase_inhibitor
nuclear_envelopathy
genodermatoses
Aug 14, 2026
Werner syndrome(成人早老症)(WERNER SYNDROME)
皮膚科
werner_syndrome
wrn
recql2
dna_helicase
progeroid_syndrome
genodermatoses
Aug 14, 2026
外胚層發育不良(ECTODERMAL DYSPLASIAS)
皮膚科
ectodermal_dysplasia
ectodysplasin
wnt_signaling
tp63
wnt10a
genodermatoses
Aug 14, 2026
少汗性外胚層發育不良(HYPOHIDROTIC ECTODERMAL DYSPLASIA)
皮膚科
hypohidrotic_ectodermal_dysplasia
eda
edar
wnt10a
ectodysplasin_pathway
hypodontia
genodermatoses
Aug 14, 2026
少汗性外胚層發育不良合併免疫缺乏(HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY)
皮膚科
hed_id
ikbkg
nemo
nfkbia
immunodeficiency
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
有汗性外胚層發育不良(HIDROTIC ECTODERMAL DYSPLASIA)
皮膚科
hidrotic_ectodermal_dysplasia
clouston_syndrome
gjb6
connexin_30
palmoplantar_keratoderma
nail_dystrophy
genodermatoses
Aug 14, 2026
Witkop tooth and nail syndrome(威特科普齒甲症候群)(WITKOP TOOTH AND NAIL SYNDROME)
皮膚科
witkop_syndrome
tooth_and_nail_syndrome
msx1
hypodontia
nail_dysgenesis
genodermatoses
Aug 14, 2026
瞼緣沾黏-外胚層缺陷-唇顎裂症候群(ANKYLOBLEPHARON–ECTODERMAL DEFECTS–CLEFT LIP/PALATE SYNDROME)
皮膚科
aec_syndrome
hay_wells_syndrome
rapp_hodgkin_syndrome
tp63
sam_domain
erosive_scalp_dermatitis
genodermatoses
Aug 14, 2026
外胚層發育不良-裂指(趾)-唇顎裂症候群(ECTODERMAL DYSPLASIA–ECTRODACTYLY–CLEFTING SYNDROME)
皮膚科
eec_syndrome
tp63
ectrodactyly
split_hand_foot_malformation
ectodermal_dysplasia
genodermatoses