1p36 deletion syndrome
|
(Orphanet:1606)
|
Aniridia
|
(Orphanet:77)
|
Atrioventricular defect - blepharophimosis -radial defects
|
(Orphanet:1352)
|
Attenuated Chédiak-Higashi syndrome
|
(Orphanet:352723)
|
Autosomal recessive cerebelloparenchymal disorder type 3
|
(Orphanet:1170)
|
Chédiak-Higashi syndrome
|
(Orphanet:167)
|
Deaf blind hypopigmentation syndrome, Yemenite type
|
(Orphanet:3214)
|
Ermine phenotype
|
(Orphanet:999)
|
Free sialic acid storage disease
|
(Orphanet:834)
|
Griscelli disease
|
(Orphanet:381)
|
Griscelli disease type 1
|
(Orphanet:79476)
|
Griscelli disease type 2
|
(Orphanet:79477)
|
Griscelli disease type 3
|
(Orphanet:79478)
|
HERMANSKY-PUDLAK SYNDROME 1
|
(OMIM:203300)
|
HERMANSKY-PUDLAK SYNDROME 4
|
(OMIM:614073)
|
HERMANSKY-PUDLAK SYNDROME 5
|
(OMIM:614074)
|
HERMANSKY-PUDLAK SYNDROME 6
|
(OMIM:614075)
|
Hermansky-Pudlak syndrome
|
(Orphanet:79430)
|
Hermansky-Pudlak syndrome type 7
|
(Orphanet:231531)
|
Hermansky-Pudlak syndrome type 8
|
(Orphanet:231537)
|
Hermansky-Pudlak syndrome with neutropenia
|
(Orphanet:183678)
|
Hermansky-Pudlak syndrome with pulmonary fibrosis
|
(Orphanet:231500)
|
Microcephaly-albinism-digital anomalies
|
(Orphanet:2513)
|
Neuronal ceroid lipofuscinosis
|
(Orphanet:216)
|
Ocular albinism
|
(Orphanet:284804)
|
Ocular albinism with congenital sensorineural deafness
|
(Orphanet:352740)
|
Ocular albinism with late-onset sensorineural deafness
|
(Orphanet:1000)
|
Oculocerebral hypopigmentation syndrome, Cross type
|
(Orphanet:2719)
|
Oculocerebral hypopigmentation syndrome, Preus type
|
(Orphanet:2720)
|
Oculocutaneous albinism
|
(Orphanet:55)
|
Oculocutaneous albinism type 1
|
(Orphanet:352731)
|
Oculocutaneous albinism type 1A
|
(Orphanet:79431)
|
Oculocutaneous albinism type 1B
|
(Orphanet:79434)
|
Oculocutaneous albinism type 2
|
(Orphanet:79432)
|
Oculocutaneous albinism type 3
|
(Orphanet:79433)
|
Oculocutaneous albinism type 4
|
(Orphanet:79435)
|
Osteoporosis - oculocutaneous hypopigmentation syndrome
|
(Orphanet:2786)
|
Vici syndrome
|
(Orphanet:1493)
|
WAARDENBURG SYNDROME, TYPE 2E
|
(OMIM:611584)
|
X-linked recessive ocular albinism
|
(Orphanet:54)
|