Albinism

Symptom Information:

Symptom ID: HPO:0001022
Synonyms:
Hair albinism [Orphanet:24320]
Albinism (disorder) [Orphanet:24320]
Albinism [Orphanet:24320]
Albinism [OMIM:Albinism]
Albinism (hair) [Orphanet:24320]
Albinism [MedDRA:10001557]
Skin albinism [Orphanet:23510]
Albinism (disorder) [Orphanet:23510]
Albinism [Orphanet:23510]
Diffuse/generalised skin hypopigmentation/cutaneous albinism [Orphanet:23510]
Quality:
Cross references:
Orphanet:24320 "Albinism (hair)" [Orphanet:24320]
Orphanet:23510 "Diffuse/generalised skin hypopigmentation/cutaneous albinism" [Orphanet:23510]
OMIM: "Albinism" [OMIM:Albinism]
UMLS:C0001916 "Albinism" [HPO:0001022]
UMLS:C0001916 "Albinism" [Orphanet:24320]
UMLS:C0001916 "Albinism" [Orphanet:23510]
Is a (Direct Parents):
HPO         Hypopigmentation of hair
HPO         Generalized hypopigmentation
Orphanet Abnormality of skin pigmentation
Orphanet Abnormality of the hair
Orphanet Hypopigmentation of the skin
MedDRA Abnormality of amino acid metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the integument(HPO:0001574)
          Abnormality of skin adnexa(HPO:0011138)
             Abnormality of the hair(HPO:0001595)
                Abnormality of hair pigmentation(HPO:0009887)
                   Hypopigmentation of hair(HPO:0005599)
                      Albinism(HPO:0001022)
          Abnormality of the skin(HPO:0000951)
             Generalized abnormality of skin(HPO:0011354)
                Abnormality of skin morphology(HPO:0011121)
                   Abnormality of skin pigmentation(HPO:0001000)
                      Hypopigmentation of the skin(HPO:0001010)
                         Generalized hypopigmentation(HPO:0007513)
                            Albinism(HPO:0001022)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Albinism(HPO:0001022)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Albinism(HPO:0001022)
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Amino acid metabolism disorders NEC(MedDRA:10036999)
          Abnormality of amino acid metabolism(HPO:0004337)
             Albinism(HPO:0001022)
Database Frequency: 43 / 7739
Resource:

All diseases associated with this symptom:

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