ABCD SYNDROME
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(OMIM:600501)
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Albinism-deafness syndrome
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(Orphanet:998)
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Aniridia - ptosis - intellectual deficit - familial obesity
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(Orphanet:1067)
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Ataxia-telangiectasia
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(Orphanet:100)
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Autosomal recessive cerebelloparenchymal disorder type 3
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(Orphanet:1170)
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Buschke-Ollendorff syndrome
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(Orphanet:1306)
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Chédiak-Higashi syndrome
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(Orphanet:167)
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DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM
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(OMIM:220900)
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Dyskeratosis congenita
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(Orphanet:1775)
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Ermine phenotype
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(Orphanet:999)
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Griscelli disease
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(Orphanet:381)
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Griscelli disease type 1
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(Orphanet:79476)
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HERMANSKY-PUDLAK SYNDROME 1
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(OMIM:203300)
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HERMANSKY-PUDLAK SYNDROME 4
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(OMIM:614073)
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HERMANSKY-PUDLAK SYNDROME 5
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(OMIM:614074)
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HERMANSKY-PUDLAK SYNDROME 6
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(OMIM:614075)
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Hermansky-Pudlak syndrome
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(Orphanet:79430)
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Hermansky-Pudlak syndrome type 7
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(Orphanet:231531)
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Hermansky-Pudlak syndrome type 8
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(Orphanet:231537)
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Hermansky-Pudlak syndrome with neutropenia
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(Orphanet:183678)
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Hermansky-Pudlak syndrome with pulmonary fibrosis
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(Orphanet:231500)
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Microcephaly-albinism-digital anomalies
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(Orphanet:2513)
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Minimal pigment oculocutaneous albinism type 1
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(Orphanet:352734)
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Ocular albinism with late-onset sensorineural deafness
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(Orphanet:1000)
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Oculocerebral hypopigmentation syndrome, Preus type
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(Orphanet:2720)
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Oculocutaneous albinism
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(Orphanet:55)
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Oculocutaneous albinism type 1
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(Orphanet:352731)
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Oculocutaneous albinism type 1B
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(Orphanet:79434)
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Oculocutaneous albinism type 2
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(Orphanet:79432)
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Oculocutaneous albinism type 3
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(Orphanet:79433)
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Oculocutaneous albinism type 4
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(Orphanet:79435)
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Oculocutaneous albinism type 5
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(Orphanet:370091)
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Oculocutaneous albinism type 7
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(Orphanet:352745)
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Oculoosteocutaneous syndrome
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(Orphanet:2713)
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Primary immunodeficiency syndrome due to p14 deficiency
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(Orphanet:90023)
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Short-limb skeletal dysplasia with severe combined immunodeficiency
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(Orphanet:935)
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Temperature-sensitive oculocutaneous albinism type 1
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(Orphanet:352737)
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Uncombable hair syndrome
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(Orphanet:1410)
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Vici syndrome
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(Orphanet:1493)
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Waardenburg syndrome type 1
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(Orphanet:894)
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Waardenburg syndrome type 2
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(Orphanet:895)
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Waardenburg syndrome type 3
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(Orphanet:896)
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Åland Islands eye disease
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(Orphanet:178333)
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