Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

80 matching diseasesClear search ×

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M

ORPHA:263482

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

ORPHA:228402

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ORPHA:79327

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ORPHA:280071

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ORPHA:79324

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

ORPHA:324422

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ORPHA:79326

ALG3-CDG

CDG syndrome type Id · CDG-Id

ORPHA:79321

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ORPHA:79320

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ORPHA:79325

ALG9-CDG

CDG syndrome type IL · CDG1L

ORPHA:79328

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

ORPHA:79332

Bartter syndrome type 1

Bartter syndrome type I

ORPHA:620217

Bartter syndrome type 2

Bartter syndrome type II

ORPHA:620220

Bartter syndrome type 3

Bartter syndrome type III

ORPHA:93605

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

ORPHA:89938

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

ORPHA:448010

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

ORPHA:468684

Cockayne syndrome type 1

Cockayne syndrome type I

ORPHA:90321

Cockayne syndrome type 2

Cockayne syndrome type II

ORPHA:90322

Cockayne syndrome type 3

Cockayne syndrome type III

ORPHA:90324

COG1-CDG

Congenital disorder of glycosylation type 2g · CDG syndrome type IIg

ORPHA:263508

COG4-CDG

Congenital disorder of glycosylation type 2j · CDG syndrome type IIj

ORPHA:263501

COG5-CDG

CDG syndrome type IIi · CDG-IIi

ORPHA:263487

COG6-CGD

CDG2L · CDG syndrome type IIL

ORPHA:464443

COG7-CDG

CDG syndrome type IIe · CDG-IIe

ORPHA:79333

COG8-CDG

CDG syndrome type IIh · CDG-IIh

ORPHA:95428

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

ORPHA:329178

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

ORPHA:300536

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

ORPHA:91131

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

ORPHA:86309

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

ORPHA:79322

DPM3-CDG

CDG syndrome type Io · CDG-Io

ORPHA:263494

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

ORPHA:391641

FG syndrome type 1

Opitz-Kaveggia syndrome

ORPHA:93932

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

ORPHA:2166

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

ORPHA:101089

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

ORPHA:101090

Hyper-IgM syndrome type 4

HIGM4

ORPHA:101091

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

ORPHA:101092

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

ORPHA:99843

Marfan syndrome type 1

MFS1

ORPHA:284963

Marfan syndrome type 2

MFS2

ORPHA:284973

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

ORPHA:247775

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

ORPHA:2578

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

ORPHA:79329

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

ORPHA:79330

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

ORPHA:75858