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"

42 matching diseasesClear search ×

Severe X-linked mitochondrial encephalomyopathy

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

ORPHA:238329

C12ORF65-related combined oxidative phosphorylation defect

C12ORF65-related COXPD

ORPHA:497623

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

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

ORPHA:330050

Encephalopathy due to mitochondrial and peroxisomal fission defect

ORPHA:527276

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

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

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome · Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

ORPHA:485421

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Combined OXPHOS defect · Combined OXPHOS deficiency

ORPHA:35696

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

COXPD10 · Combined oxidative phosphorylation defect type 10

ORPHA:314637

Mitochondrial oxidative phosphorylation disorder

OXPHOS disease

ORPHA:223713

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA · OXPHOS disease due to a large-scale single deletion of mitochondrial DNA

ORPHA:254767

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA · OXPHOS disease due to a point mutation of mitochondrial DNA

ORPHA:254776

Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies · OXPHOS disease due to mitochondrial DNA anomalies

ORPHA:254758

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies · OXPHOS disease due to nDNA anomalies

ORPHA:2443

Mitochondrial oxidative phosphorylation disorder with no known mechanism

OXPHOS disease with no known mechanism

ORPHA:254822

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

COXPD28 · Combined oxidative phosphorylation defect type 28

ORPHA:466784

OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA

OBSOLETE: OXPHOS disease due to a duplication of mtDNA · OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA

ORPHA:254793

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

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

ORPHA:457223

TMEM70-related mitochondrial encephalo-cardio-myopathy

Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency

ORPHA:1194