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66 Result(s)

ORPHA:79327   (Disorder)   ALG1-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ik

ORPHA:280071   (Disorder)   ALG11-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ip

ORPHA:79324   (Disorder)   ALG12-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ig

ORPHA:324422   (Disorder)   ALG13-CDG

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Synonym(s) : Congenital disorder of glycosylation type Is

ORPHA:79326   (Disorder)   ALG2-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ii

ORPHA:79321   (Disorder)   ALG3-CDG

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Synonym(s) : Congenital disorder of glycosylation type Id

ORPHA:79320   (Disorder)   ALG6-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ic

ORPHA:79325   (Disorder)   ALG8-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ih

ORPHA:79328   (Disorder)   ALG9-CDG

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Synonym(s) : Congenital disorder of glycosylation type 1L

ORPHA:536467   (Subtype of disorder)   B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

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Keyword(s) : Beta3GalT6-defective congenital disorder of glycosylation

ORPHA:79332   (Disorder)   B4GALT1-CDG

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Synonym(s) : Congenital disorder of glycosylation type IId

ORPHA:75496   (Subtype of disorder)   B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

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Keyword(s) : Beta4GalT7-defective congenital disorder of glycosylation

ORPHA:448010   (Disorder)   CAD-CDG

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Synonym(s) : Congenital disorder of glycosylation type 1z

ORPHA:468684   (Disorder)   CCDC115-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIo

ORPHA:3474   (Disorder)   CHIME syndrome

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Synonym(s) : Congenital disorder of glycosylation due to PIGL deficiency

ORPHA:263508   (Disorder)   COG1-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIg

ORPHA:435934   (Disorder)   COG2-CDG

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Synonym(s) : COG2-related congenital disorder of glycosylation

ORPHA:263501   (Disorder)   COG4-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIj

ORPHA:263487   (Disorder)   COG5-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIi

ORPHA:464443   (Disorder)   COG6-CGD

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Synonym(s) : Congenital disorder of glycosylation type IIL

ORPHA:79333   (Disorder)   COG7-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIe

ORPHA:95428   (Disorder)   COG8-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIh

ORPHA:137   (Group of disorders)   Congenital disorder of glycosylation

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ORPHA:371212   (Group of disorders)   Congenital disorder of glycosylation with deafness as a major feature

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Synonym(s) : Congenital disorder of glycosylation with hearing loss as a major feature

ORPHA:329178   (Disorder)   Congenital muscular dystrophy with intellectual disability and severe epilepsy

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Synonym(s) : Congenital disorder of glycosylation type Iu

ORPHA:300536   (Disorder)   DDOST-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ir

ORPHA:91131   (Disorder)   DK1-CDG

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Synonym(s) : Congenital disorder of glycosylation type Im

ORPHA:86309   (Disorder)   DPAGT1-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ij

ORPHA:79322   (Disorder)   DPM1-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ie

ORPHA:263494   (Disorder)   DPM3-CDG

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Synonym(s) : Congenital disorder of glycosylation type Io

ORPHA:488635   (Disorder)   Early-onset epilepsy-intellectual disability-brain anomalies syndrome

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Synonym(s) : Congenital disorder of glycosylation due to PIGG deficiency

ORPHA:83639   (Disorder)   Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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Synonym(s) : Congenital disorder of glycosylation due to PIGM deficiency

ORPHA:369837   (Disorder)   Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

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Synonym(s) : Congenital disorder of glycosylation due to PIGT deficiency

ORPHA:397941   (Disorder)   MAN1B1-CDG

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Synonym(s) : Congenital disorder of glycosylation type II due to MAN1B1 deficiency

ORPHA:79329   (Disorder)   MGAT2-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIa

ORPHA:79330   (Disorder)   MOGS-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIb

ORPHA:79323   (Disorder)   MPDU1-CDG

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Synonym(s) : Congenital disorder of glycosylation type If

ORPHA:79319   (Disorder)   MPI-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ib

ORPHA:280633   (Disorder)   Multiple congenital anomalies-hypotonia-seizures syndrome

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Synonym(s) : Congenital disorder of glycosylation due to PIGN deficiency

ORPHA:319646   (Disorder)   PGM1-CDG

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Synonym(s) : Congenital disorder of glycosylation type It ; PGM1-related congenital disorder of glycosylation

ORPHA:443811   (Disorder)   PGM3-CDG

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Synonym(s) : PGM3-related congenital disorder of glycosylation

ORPHA:79318   (Disorder)   PMM2-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ia

ORPHA:244310   (Disorder)   RFT1-CDG

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Synonym(s) : Congenital disorder of glycosylation type In

ORPHA:294049   (Disorder)   Reunion Island Larsen-like syndrome

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Keyword(s) : Beta4GalT7-defective congenital disorder of glycosylation

ORPHA:238459   (Disorder)   SLC35A1-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIf

ORPHA:356961   (Disorder)   SLC35A2-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIm

ORPHA:468699   (Disorder)   SLC39A8-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIn

ORPHA:324737   (Disorder)   SRD5A3-CDG

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Synonym(s) : Congenital disorder of glycosylation type Iq

ORPHA:370927   (Disorder)   SSR4-CDG

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Synonym(s) : Congenital disorder of glycosylation type Iy

ORPHA:370921   (Disorder)   STT3A-CDG

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Synonym(s) : Congenital disorder of glycosylation type Iw

ORPHA:370924   (Disorder)   STT3B-CDG

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Synonym(s) : Congenital disorder of glycosylation type Ix

ORPHA:93359   (Disorder)   Spondyloepimetaphyseal dysplasia with joint laxity

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Keyword(s) : Beta3GalT6-defective congenital disorder of glycosylation

ORPHA:314667   (Disorder)   TMEM165-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIk

ORPHA:466703   (Disorder)   TMEM199-CDG

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Synonym(s) : Congenital disorder of glycosylation type IIp