about
lipoprotein glomerulopathysitosterolemiasea-blue histiocyte syndromeapparent mineralocorticoid excess syndromespinocerebellar ataxia type 38Sjogren-Larsson syndromecerebrotendinous xanthomatosismultiple congenital anomalies-hypotonia-seizures syndrome 1multiple congenital anomalies-hypotonia-seizures syndrome 23-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeabetalipoproteinemiaPHARC syndromehereditary spastic paraplegia 39hereditary sensory neuropathy-deafness-dementia syndromeautosomal recessive cerebellar ataxia with late-onset spasticityMEND syndromesevere intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiencymicrocephaly-congenital cataract-psoriasiform dermatitis syndromeGM3 synthase deficiencyFabry diseaseZunich–Kaye syndromeBarth syndromeSmith-Lemli-Opitz syndrome
P279
Q11699959-54BD6179-C7B8-49D4-A991-591C5C8E9D7AQ1336034-EF4D6BC0-078A-4BAF-AE05-58E286087B06Q18556319-F2A7E755-E00C-48DE-AE72-5BD855FC2ABEQ2065747-E8C29A6E-EB4B-497A-81C7-79FDB1B41F84Q21097780-E9EFE5A7-8477-4B16-A412-7CE704C84FB0Q2291208-CDD6B349-942B-410A-AC60-E7BD35B66AA5Q2602467-F298C7EB-F237-4365-B30D-A4232103A54BQ26492831-59D1117D-E422-491B-BB72-8F52003177EBQ26492832-AAA7C8E9-C3F0-4E6D-972C-350F3FB485EEQ27677577-3A8E426D-706D-4EF2-AD1C-FEA1FC8638C7Q319812-2E92F65A-DE5E-4E7A-A026-A66BC928EC69Q32137273-A7EFE92E-3018-4D2B-81CF-BFF20C971286Q32142969-A8BCBC27-5735-4FC6-A1CA-5833CF534999Q50349724-D077A324-E1E3-4DA9-A50E-2FDDA7B79B0FQ55346025-F51F0236-A0DA-4694-8823-74881934FBBCQ55782508-3FB28632-D834-4EC2-8056-D3BCEFF8EB59Q55784859-FC0D4C98-7E3D-4845-85F0-E4F308304A9DQ55785013-270D027F-AF63-45B6-990B-97A6367B3874Q55787840-FD73A9F1-71D1-499E-A169-50AA69773AE2Q615645-CE3A7EED-1B43-4E39-9C38-566B345286ADQ8075299-1649C764-E073-4D4E-A8F0-7CA4A5A31467Q928424-095A7EFF-8C2F-4A06-9AED-33F5BD5A4D2EQ998273-0CD43AF3-C0EF-468B-9D2A-469913083431
P279
description
human disease
@en
name
dislipidemia sindrómica
@es
dislipèmia sindromica
@ca
dyslipidemie syndromique
@fr
syndromic dyslipidemia
@en
type
label
dislipidemia sindrómica
@es
dislipèmia sindromica
@ca
dyslipidemie syndromique
@fr
syndromic dyslipidemia
@en
prefLabel
dislipidemia sindrómica
@es
dislipèmia sindromica
@ca
dyslipidemie syndromique
@fr
syndromic dyslipidemia
@en
P1550
P2888
P5270
MONDO:0015905