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63_other_genodermatoses
63_other_genodermatoses
24 items under this folder.
Aug 14, 2026
Introduction
็ฎ่็ง
genodermatoses
enzyme_deficiency
premature_aging
ectodermal_dysplasia
Aug 14, 2026
MULTIPLE ENDOCRINE NEOPLASIA
็ฎ่็ง
multiple_endocrine_neoplasia
angiofibroma
collagenoma
mucosal_neuroma
ret
genodermatoses
Aug 14, 2026
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 SYNDROME (VARIANT OF FAMILIAL ADENOMATOUS POLYPOSIS)
็ฎ่็ง
gardner_syndrome
familial_adenomatous_polyposis
apc
epidermoid_cyst
desmoid_tumor
osteoma
genodermatoses
Aug 14, 2026
MUIRโTORRE SYNDROME (VARIANT OF LYNCH SYNDROME)
็ฎ่็ง
muir_torre_syndrome
lynch_syndrome
sebaceous_neoplasm
keratoacanthoma
mismatch_repair
microsatellite_instability
genodermatoses
Aug 14, 2026
ALKAPTONURIA
็ฎ่็ง
alkaptonuria
ochronosis
homogentisic_acid
nitisinone
genodermatoses
Aug 14, 2026
BIOTINIDASE AND HOLOCARBOXYLASE SYNTHETASE DEFICIENCIES
็ฎ่็ง
biotinidase_deficiency
holocarboxylase_synthetase_deficiency
multiple_carboxylase_deficiency
nutritional_dermatitis
biotin
genodermatoses
Aug 14, 2026
FABRY DISEASE
็ฎ่็ง
fabry_disease
angiokeratoma
lysosomal_storage_disorder
gla
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
FUCOSIDOSIS
็ฎ่็ง
fucosidosis
angiokeratoma
lysosomal_storage_disorder
fuca1
genodermatoses
Aug 14, 2026
GAUCHER DISEASE
็ฎ่็ง
gaucher_disease
lysosomal_storage_disorder
glucocerebrosidase
collodion_baby
enzyme_replacement_therapy
genodermatoses
Aug 14, 2026
HARTNUP DISEASE
็ฎ่็ง
hartnup_disease
photosensitivity
pellagra_like
slc6a19
nicotinamide
genodermatoses
Aug 14, 2026
MITOCHONDRIAL DISORDERS
็ฎ่็ง
mitochondrial_disorders
respiratory_chain
oxidative_phosphorylation
hair_shaft_anomalies
genodermatoses
Aug 14, 2026
ACID SPHINGOMYELINASE DEFICIENCY (NIEMANNโPICK DISEASE)
็ฎ่็ง
niemann_pick_disease
acid_sphingomyelinase_deficiency
lysosomal_storage_disorder
olipudase_alfa
genodermatoses
Aug 14, 2026
PHENYLKETONURIA
็ฎ่็ง
phenylketonuria
phenylalanine_hydroxylase
pigmentary_dilution
sclerodermoid
newborn_screening
genodermatoses
Aug 14, 2026
PREMATURE AGING SYNDROMES AND POIKILODERMAS
็ฎ่็ง
progeroid_syndromes
poikiloderma
rothmund_thomson_syndrome
kindler_syndrome
genodermatoses
Aug 14, 2026
HUTCHINSONโGILFORD PROGERIA SYNDROME
็ฎ่็ง
hutchinson_gilford_progeria_syndrome
lmna
progerin
lonafarnib
farnesyltransferase_inhibitor
nuclear_envelopathy
genodermatoses
Aug 14, 2026
WERNER SYNDROME
็ฎ่็ง
werner_syndrome
wrn
recql2
dna_helicase
progeroid_syndrome
genodermatoses
Aug 14, 2026
ECTODERMAL DYSPLASIAS
็ฎ่็ง
ectodermal_dysplasia
ectodysplasin
wnt_signaling
tp63
wnt10a
genodermatoses
Aug 14, 2026
HYPOHIDROTIC ECTODERMAL DYSPLASIA
็ฎ่็ง
hypohidrotic_ectodermal_dysplasia
eda
edar
wnt10a
ectodysplasin_pathway
hypodontia
genodermatoses
Aug 14, 2026
HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY
็ฎ่็ง
hed_id
ikbkg
nemo
nfkbia
immunodeficiency
ectodermal_dysplasia
genodermatoses
Aug 14, 2026
HIDROTIC ECTODERMAL DYSPLASIA
็ฎ่็ง
hidrotic_ectodermal_dysplasia
clouston_syndrome
gjb6
connexin_30
palmoplantar_keratoderma
nail_dystrophy
genodermatoses
Aug 14, 2026
WITKOP TOOTH AND NAIL SYNDROME
็ฎ่็ง
witkop_syndrome
tooth_and_nail_syndrome
msx1
hypodontia
nail_dysgenesis
genodermatoses
Aug 14, 2026
ANKYLOBLEPHARONโECTODERMAL DEFECTSโ CLEFT LIP/PALATE SYNDROME
็ฎ่็ง
aec_syndrome
hay_wells_syndrome
rapp_hodgkin_syndrome
tp63
sam_domain
erosive_scalp_dermatitis
genodermatoses
Aug 14, 2026
ECTODERMAL DYSPLASIAโECTRODACTYLYโ CLEFTING SYNDROME
็ฎ่็ง
eec_syndrome
tp63
ectrodactyly
split_hand_foot_malformation
ectodermal_dysplasia
genodermatoses