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63_other_genodermatoses
63_other_genodermatoses
24 items under this folder.
Aug 14, 2026
ๅ่จ (Introduction)
็ฎ่็ง
genodermatoses
enzyme_deficiency
premature_aging
ectodermal_dysplasia
Aug 14, 2026
ๅค็ผๆงๅ งๅๆณๆฐ็็ฉ (Multiple Endocrine Neoplasia)
็ฎ่็ง
multiple_endocrine_neoplasia
angiofibroma
collagenoma
mucosal_neuroma
ret
genodermatoses
Aug 14, 2026
PTEN ้ฏๆง็ค่ ซ็ค็ๅ็พค๏ผๅซ Cowden ็ๅ็พค๏ผ(PTEN Hamartoma Tumor Syndrome, Including Cowden Syndrome)
็ฎ่็ง
pten_hamartoma_tumor_syndrome
cowden_syndrome
tricholemmoma
sclerotic_fibroma
cancer_surveillance
mtor
genodermatoses
Aug 14, 2026
Gardner ็ๅ็พค๏ผๅฎถๆๆง่ บ็คๆงๆฏ่็็่ฎ็ฐๅ๏ผ(Gardner Syndrome, Variant of Familial Adenomatous Polyposis)
็ฎ่็ง
gardner_syndrome
familial_adenomatous_polyposis
apc
epidermoid_cyst
desmoid_tumor
osteoma
genodermatoses
Aug 14, 2026
MuirโTorre ็ๅ็พค๏ผLynch ็ๅ็พค็่ฎ็ฐๅ๏ผ(MuirโTorre Syndrome, Variant of Lynch Syndrome)
็ฎ่็ง
muir_torre_syndrome
lynch_syndrome
sebaceous_neoplasm
keratoacanthoma
mismatch_repair
microsatellite_instability
genodermatoses
Aug 14, 2026
้ปๅฐฟ็ (Alkaptonuria)
็ฎ่็ง
alkaptonuria
ochronosis
homogentisic_acid
nitisinone
genodermatoses
Aug 14, 2026
็็ฉ็ด ้ ถ่ๅ จ็พงๅ้ ถๅๆ้ ถ็ผบไน็ (Biotinidase and Holocarboxylase Synthetase Deficiencies)
็ฎ่็ง
biotinidase_deficiency
holocarboxylase_synthetase_deficiency
multiple_carboxylase_deficiency
nutritional_dermatitis
biotin
genodermatoses
Aug 14, 2026
Fabry ็ (Fabry Disease)
็ฎ่็ง
fabry_disease
angiokeratoma
lysosomal_storage_disorder
gla
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
ๅฒฉ่ป็ณ่ท่ฒฏ็ฉ็ (Fucosidosis)
็ฎ่็ง
fucosidosis
angiokeratoma
lysosomal_storage_disorder
fuca1
genodermatoses
Aug 14, 2026
Gaucher ็ (Gaucher Disease)
็ฎ่็ง
gaucher_disease
lysosomal_storage_disorder
glucocerebrosidase
collodion_baby
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
Hartnup ็ (Hartnup Disease)
็ฎ่็ง
hartnup_disease
photosensitivity
pellagra_like
slc6a19
nicotinamide
genodermatoses
Aug 14, 2026
็ฒ็ท้ซ็พ็ (Mitochondrial Disorders)
็ฎ่็ง
mitochondrial_disorders
respiratory_chain
oxidative_phosphorylation
hair_shaft_anomalies
genodermatoses
Aug 14, 2026
้ ธๆง้็ฃท่้ ถ็ผบไน็๏ผNiemannโPick ็ ๏ผ(Acid Sphingomyelinase Deficiency, NiemannโPick Disease)
็ฎ่็ง
niemann_pick_disease
acid_sphingomyelinase_deficiency
lysosomal_storage_disorder
olipudase_alfa
genodermatoses
Aug 14, 2026
่ฏ้ ฎๅฐฟ็ (Phenylketonuria)
็ฎ่็ง
phenylketonuria
phenylalanine_hydroxylase
pigmentary_dilution
sclerodermoid
newborn_screening
genodermatoses
Aug 14, 2026
ๆฉ่็ๅ็พค่็ฐ่ฒ็ (Premature Aging Syndromes and Poikilodermas)
็ฎ่็ง
progeroid_syndromes
poikiloderma
rothmund_thomson_syndrome
kindler_syndrome
genodermatoses
Aug 14, 2026
HutchinsonโGilford ๆฉ่็ๅ็พค (HutchinsonโGilford Progeria Syndrome)
็ฎ่็ง
hutchinson_gilford_progeria_syndrome
lmna
progerin
lonafarnib
farnesyltransferase_inhibitor
nuclear_envelopathy
genodermatoses
Aug 14, 2026
Werner ็ๅ็พค (Werner Syndrome)
็ฎ่็ง
werner_syndrome
wrn
recql2
dna_helicase
progeroid_syndrome
genodermatoses
Aug 14, 2026
่กจ็ฎ็ผ่ฒไธ่ฏ (Ectodermal Dysplasias)
็ฎ่็ง
ectodermal_dysplasia
ectodysplasin
wnt_signaling
tp63
wnt10a
genodermatoses
Aug 14, 2026
ๅฐๆฑๆง่กจ็ฎ็ผ่ฒไธ่ฏ (Hypohidrotic Ectodermal Dysplasia)
็ฎ่็ง
hypohidrotic_ectodermal_dysplasia
eda
edar
wnt10a
ectodysplasin_pathway
hypodontia
genodermatoses
Aug 14, 2026
ๅฐๆฑๆง่กจ็ฎ็ผ่ฒไธ่ฏไฝตๅ ็ซ็ผบ้ท (Hypohidrotic Ectodermal Dysplasia With Immune Deficiency)
็ฎ่็ง
hed_id
ikbkg
nemo
nfkbia
immunodeficiency
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
ๆๆฑๆง่กจ็ฎ็ผ่ฒไธ่ฏ๏ผClouston ็ๅ็พค๏ผ(Hidrotic Ectodermal Dysplasia, Clouston Syndrome)
็ฎ่็ง
hidrotic_ectodermal_dysplasia
clouston_syndrome
gjb6
connexin_30
palmoplantar_keratoderma
nail_dystrophy
genodermatoses
Aug 14, 2026
Witkop ็้ฝ่ๆ็ฒ็ๅ็พค (Witkop Tooth and Nail Syndrome)
็ฎ่็ง
witkop_syndrome
tooth_and_nail_syndrome
msx1
hypodontia
nail_dysgenesis
genodermatoses
Aug 14, 2026
็ผ็ผ้ป้ฃโ่กจ็ฎ็ผบ้ทโๅ๏ผ้ก่ฃ็ๅ็พค (AnkyloblepharonโEctodermal DefectsโCleft Lip/Palate Syndrome)
็ฎ่็ง
aec_syndrome
hay_wells_syndrome
rapp_hodgkin_syndrome
tp63
sam_domain
erosive_scalp_dermatitis
genodermatoses
Aug 14, 2026
่กจ็ฎ็ผ่ฒไธ่ฏโ็ผบๆ่ถพโ่ฃ็ๅ็พค (Ectodermal DysplasiaโEctrodactylyโClefting Syndrome)
็ฎ่็ง
eec_syndrome
tp63
ectrodactyly
split_hand_foot_malformation
ectodermal_dysplasia
genodermatoses