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megalencephalytetralogy of FallotNijmegen breakage syndrometricuspid atresiaBloom syndromemucopolysaccharidosisgalactosialidosisgastroschisispiebaldisminclusion-cell diseaselissencephalyRothmund-Thomson syndromeMental retardation and microcephaly with pontine and cerebellar hypoplasiaLyngstadaas syndromenon-syndromic pontocerebellar hypoplasiaMerkel cell carcinomaNance-Horan syndromeOgden syndromemitochondrial DNA depletion syndromeneuronal migration disorderfucosidosisGordon-Holmes syndromepersistent Mullerian duct syndromeCongenital lobar emphysemaX-linked cerebellar ataxiacongenital diaphragmatic herniaFowler syndromeRiley-Day syndromeWarsaw breakage syndromerenal hypoplasiaCorneal-cerebellar syndromealpha-mannosidosisGomez and López-Hernández syndromeamelogenesis imperfecta type 1GCharcot-Marie-Tooth disease type 4Kcocoon syndromeCharcot-Marie-Tooth disease recessive intermediate Disolated cleft palateEbstein anomalypulmonary atresia with Ventricular Septal Defect
P279
Q10748814-BB7A37C2-212B-4098-8F55-4712BD6BA331Q1126831-BE0828CA-C230-497E-A631-971EC6DE03DAQ1250362-EA8A91FC-AEBE-40F5-9A17-0A038847D199Q1283303-3A79E984-821B-4443-B489-6909DAC4B5F0Q1469646-A0F59045-6420-4ADB-AB55-86621D879306Q1479681-E5E2287C-68BE-44F5-A25C-04DFF9712F03Q1491661-BA8A4E83-9497-4603-85A7-6BD226EAA391Q1495674-E4D76405-36E9-4F47-A0C0-DCDDFBF962B6Q1516083-D1E10AC6-5F16-4D14-AFDD-0E6A9E9C95AEQ1516888-E5AB2296-1E79-43AF-8463-ED982FB0A158Q1544416-7D74521C-93E6-407C-95DA-D5D73890ABBEQ1583485-FE155373-8B71-4DBA-B01A-44642AA565E1Q16938818-9DD54891-3B73-44C8-BD93-6D2153E0383FQ16978490-DED45F8E-753B-4309-8F07-3099D88C5F2CQ1698867-940D2F1E-42E9-4507-8F2F-6A0EBBECBA56Q1711744-F071AFE3-B691-4775-8FEC-D66FA37CF3FDQ17144153-8C4D9278-1DD6-48D5-BDF2-1CF25CBAE3B5Q17144188-14BC7F3B-A0B3-4F1A-B64E-48399602497DQ17144217-3B016C4D-41EA-4BBE-91FF-47AB261157A9Q17146964-E5589BE4-8CFC-4C8A-8E26-799DB1ADF195Q177878-937B25E9-BF33-4C89-990D-E2A7D0B1A493Q18020927-D04311D6-90E1-4530-B100-F1211560B967Q1958739-27D5E91C-85CA-45D0-8C55-FD354AACD8B8Q21027078-C279E620-A407-432C-865E-20A0229E0D7EQ21082499-DE5E8BDF-0B66-4708-A006-B0DB22D8883DQ2163245-F60AB413-9E79-42C7-82E7-40A6C0C01EF7Q22965443-7711856B-D952-4D61-844A-4D8A33B78838Q2325854-E58D7FC6-480D-40FF-9104-75314C2CF89CQ23542366-B6190C1B-58ED-4016-91F6-ADCB92B455D0Q24284111-FF3D033D-5DF0-46AF-8E9A-FC1FAFAC7EDAQ24977255-36460142-0804-4A7F-8970-B1815839A6E5Q250449-3CA755DF-B405-43A5-9667-CFC71BBF64FCQ25324175-57552C82-DDBF-4258-A2D5-50A9BCA2A778Q27164432-F7A4598D-7BB0-4D53-BAFF-326B10FC2D2BQ27164494-344B73D8-1285-401F-B2F0-43AF65E3A76BQ27674745-51DAF7B3-D0F1-4579-A61E-729CF81D12F9Q27677666-F3C24395-5E25-4539-AD51-C50AE4972C43Q27677677-A5AC3891-3BCB-498F-8489-A7340D909654Q277452-9C321875-ED2A-4DD0-BC91-A6C52F9D7512Q2869826-397B76BB-887E-4A25-924F-2354D2163B4B
P279
description
human disease
@en
name
defecte de desenvolupament genètic, rar, durant l’embriogènesi
@ca
defecto de desarrollo genético, raro, durante la embriogénesis
@es
rare genetic developmental defect during embryogenesis
@en
type
label
defecte de desenvolupament genètic, rar, durant l’embriogènesi
@ca
defecto de desarrollo genético, raro, durante la embriogénesis
@es
rare genetic developmental defect during embryogenesis
@en
prefLabel
defecte de desenvolupament genètic, rar, durant l’embriogènesi
@ca
defecto de desarrollo genético, raro, durante la embriogénesis
@es
rare genetic developmental defect during embryogenesis
@en
P1550
P2888
P5270
MONDO:0015960