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"

33 matching diseasesClear search ×

Combined oxidative phosphorylation defect type 11

COXPD11

ORPHA:324535

Combined oxidative phosphorylation defect type 13

COXPD13

ORPHA:319514

Combined oxidative phosphorylation defect type 14

COXPD14

ORPHA:319519

Combined oxidative phosphorylation defect type 15

COXPD15

ORPHA:319524

Combined oxidative phosphorylation defect type 17

COXPD17

ORPHA:369913

Combined oxidative phosphorylation defect type 2

COXPD2

ORPHA:254920

Combined oxidative phosphorylation defect type 20

COXPD20

ORPHA:420728

Combined oxidative phosphorylation defect type 21

COXPD21

ORPHA:420733

Combined oxidative phosphorylation defect type 23

COXPD23

ORPHA:444013

Combined oxidative phosphorylation defect type 24

COXPD24

ORPHA:444458

Combined oxidative phosphorylation defect type 25

COXPD25

ORPHA:447954

Combined oxidative phosphorylation defect type 26

COXPD26

ORPHA:477684

Combined oxidative phosphorylation defect type 27

COXPD27

ORPHA:477774

Combined oxidative phosphorylation defect type 29

COXPD29

ORPHA:478029

Combined oxidative phosphorylation defect type 30

COXPD30

ORPHA:478042

Combined oxidative phosphorylation defect type 39

GFM2-related combined oxidative phosphorylation defect · COXPD39

ORPHA:565624

Combined oxidative phosphorylation defect type 4

COXPD4

ORPHA:254925

Combined oxidative phosphorylation defect type 7

Severe C12ORF65-related combined oxidative phosphorylation defect · Severe C12ORF65-related COXPD

ORPHA:254930

Combined oxidative phosphorylation defect type 8

COXPD8

ORPHA:319504

Combined oxidative phosphorylation defect type 9

COXPD9

ORPHA:319509

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

ORPHA:35696

Hypotonia with lactic acidemia and hyperammonemia

COXPD5 · Combined oxidative phosphorylation defect type 5

ORPHA:137908

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

COXPD16 · Combined oxidative phosphorylation defect type 16

ORPHA:352563

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

COXPD12 · LTBL

ORPHA:314051

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

COXPD10 · Combined oxidative phosphorylation defect type 10

ORPHA:314637

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

COXPD28 · Combined oxidative phosphorylation defect type 28

ORPHA:466784

C12ORF65-related combined oxidative phosphorylation defect

C12ORF65-related COXPD

ORPHA:497623

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fatal mitochondrial disease due to COXPD3

ORPHA:168566

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoencephalopathy due to COXPD1

ORPHA:137681

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Syndromic sensorineural hearing loss due to COXPD · Syndromic sensorineural deafness due to COXPD

ORPHA:457223

Isolated oxidative phosphorylation complex disorder

Isolated respiratory chain complex disorder

ORPHA:254846

Mitochondrial oxidative phosphorylation disorder

OXPHOS disease

ORPHA:223713

Severe X-linked mitochondrial encephalomyopathy

Mitochondrial encephalomyopathy due to COXPD6 · Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

ORPHA:238329