ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
|
(OMIM:231550)
|
ADRENAL HYPOPLASIA, CONGENITAL
|
(OMIM:300200)
|
ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL
|
(OMIM:103230)
|
ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT
|
(OMIM:202355)
|
Ankyloblepharon - ectodermal defects - cleft lip/palate
|
(Orphanet:1071)
|
Bullous dystrophy, macular type
|
(Orphanet:1867)
|
Congenital erythropoietic porphyria
|
(Orphanet:79277)
|
Craniolenticulosutural dysplasia
|
(Orphanet:50814)
|
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY
|
(OMIM:133750)
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A
|
(OMIM:227650)
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
(OMIM:227645)
|
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
(OMIM:227646)
|
GLUCOCORTICOID DEFICIENCY 1
|
(OMIM:202200)
|
GLUCOCORTICOID DEFICIENCY 2
|
(OMIM:607398)
|
GLUCOCORTICOID DEFICIENCY 3
|
(OMIM:609197)
|
GLUCOCORTICOID DEFICIENCY 4
|
(OMIM:614736)
|
Gastrointestinal stromal tumor
|
(Orphanet:44890)
|
Gaucher disease type 1
|
(Orphanet:77259)
|
Hemochromatosis, type 1
|
(OMIM:235200)
|
Hidrotic ectodermal dysplasia
|
(Orphanet:189)
|
Immunodeficiency with natural-killer cell deficiency
|
(Orphanet:75391)
|
PORPHYRIA CUTANEA TARDA, TYPE I
|
(OMIM:176090)
|
XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD
|
(OMIM:194400)
|
Xeroderma pigmentosum complementation group F
|
(Orphanet:276264)
|