Muscle weakness

Symptom Information:

Symptom ID: HPO:0001324
Synonyms:
Muscular weakness [HPO:0001324]
Weakness [HPO:0001324]
Muscular hypotonia [Orphanet:43330]
Poor muscle tone (finding) [Orphanet:43330]
Decreased muscle tone (finding) [Orphanet:43330]
Muscle weakness (finding) [Orphanet:44150]
Muscle hypotonia [Orphanet:43330]
Muscle Weakness [Orphanet:44150]
Muscle weakness [OMIM:Muscle weakness]
Muscular weakness [OMIM:Muscular weakness]
Weakness [OMIM:Weakness]
Hypotonia [Orphanet:43330]
Muscle weakness/flaccidity [Orphanet:44150]
Muscular weakness [Orphanet:44150]
Hypotonia [MedDRA:10021118]
Abdominal flaccidity [MedDRA:10021118]
Atonia [MedDRA:10021118]
Atony skeletal muscle [MedDRA:10021118]
Decreased muscle tone [MedDRA:10021118]
Flaccidity [MedDRA:10021118]
Flaccidity muscle [MedDRA:10021118]
Floppy [MedDRA:10021118]
M relaxation [MedDRA:10021118]
Muscle flaccid [MedDRA:10021118]
Muscle relaxation [MedDRA:10021118]
Muscle tone decreased [MedDRA:10021118]
Muscle tone flaccid [MedDRA:10021118]
Non-depolarising relaxant [MedDRA:10021118]
Skeletal muscle atony [MedDRA:10021118]
Muscular weakness [MedDRA:10028372]
Hands weakness of [MedDRA:10028372]
Lower extremities weakness of [MedDRA:10028372]
Muscle weakness [MedDRA:10028372]
Muscle weakness NOS [MedDRA:10028372]
Myasthenia [MedDRA:10028372]
Weakness muscle [MedDRA:10028372]
Weakness of limbs [MedDRA:10028372]
Weakness voluntary muscle [MedDRA:10028372]
Muscle weakness aggravated [MedDRA:10028372]
Asthenia legs [MedDRA:10028372]
Weakness of arms [MedDRA:10028372]
Localised muscle weakness [MedDRA:10028372]
Localized muscle weakness [MedDRA:10028372]
Generalised muscle weakness [MedDRA:10028372]
Generalized muscle weakness [MedDRA:10028372]
Neuromuscular weakness [MedDRA:10028372]
Weakness in extremity [MedDRA:10028372]
Muscle weakness lower limb [MedDRA:10028372]
Muscle weakness trunk [MedDRA:10028372]
Muscle weakness upper limb [MedDRA:10028372]
Descending muscle weakness [MedDRA:10028372]
Flaccidity [OMIM:Flaccidity]
Generalized muscle weakness (less common) [OMIM:Generalized muscle weakness (less common)]
Hypotonia [OMIM:Hypotonia]
Hypotonia (1 patient) [OMIM:Hypotonia (1 patient)]
Hypotonia (2 patients) [OMIM:Hypotonia (2 patients)]
Hypotonia (45%) [OMIM:Hypotonia (45%)]
Hypotonia (96%) [OMIM:Hypotonia (96%)]
Hypotonia (CVS+) [OMIM:Hypotonia (CVS+)]
Hypotonia (HCS and 2p21del) [OMIM:Hypotonia (HCS and 2p21del)]
Hypotonia (congenital form) [OMIM:Hypotonia (congenital form)]
Hypotonia (early infancy) [OMIM:Hypotonia (early infancy)]
Hypotonia (early-onset form) [OMIM:Hypotonia (early-onset form)]
Hypotonia (in 1/4 patients) [OMIM:Hypotonia (in 1/4 patients)]
Hypotonia (in infancy) [OMIM:Hypotonia (in infancy)]
Hypotonia (in males) [OMIM:Hypotonia (in males)]
Hypotonia (in some patients) [OMIM:Hypotonia (in some patients)]
Hypotonia (less common) [OMIM:Hypotonia (less common)]
Hypotonia (mild) [OMIM:Hypotonia (mild)]
Hypotonia (neonatal) [OMIM:Hypotonia (neonatal)]
Hypotonia (newborn) [OMIM:Hypotonia (newborn)]
Hypotonia (rare) [OMIM:Hypotonia (rare)]
Hypotonia (type I and type II, infantile) [OMIM:Hypotonia (type I and type II, infantile)]
Hypotonia (untreated hypothyroidism) [OMIM:Hypotonia (untreated hypothyroidism)]
Lower limb muscle weakness (in 2 of 3 families) [OMIM:Lower limb muscle weakness (in 2 of 3 families)]
Lower limb muscle weakness (occurs later) [OMIM:Lower limb muscle weakness (occurs later)]
Muscle weakness (1 patient) [OMIM:Muscle weakness (1 patient)]
Muscle weakness (CVS+) [OMIM:Muscle weakness (CVS+)]
Muscle weakness (in 90% of patients) [OMIM:Muscle weakness (in 90% of patients)]
Muscle weakness (in some patients) [OMIM:Muscle weakness (in some patients)]
Muscle weakness (increases with age) [OMIM:Muscle weakness (increases with age)]
Muscle weakness (type I) [OMIM:Muscle weakness (type I)]
Muscle weakness, lower limbs [OMIM:Muscle weakness, lower limbs]
No muscle weakness [OMIM:No muscle weakness]
Trunk muscle weakness [OMIM:Trunk muscle weakness]
Quality:
Cross references:
HPO:0001252 "Muscular hypotonia" [Orphanet:43330]
HPO:0001252 "Muscular hypotonia" [Orphanet:44150]
Orphanet:43330 "Hypotonia" [Orphanet:43330]
Orphanet:44150 "Muscle weakness/flaccidity" [Orphanet:44150]
OMIM: "Muscle weakness" [OMIM:Muscle weakness]
OMIM: "Muscular weakness" [OMIM:Muscular weakness]
OMIM: "Weakness" [OMIM:Weakness]
OMIM: "Flaccidity" [OMIM:Flaccidity]
OMIM: "Generalized muscle weakness (less common)" [OMIM:Generalized muscle weakness (less common)]
OMIM: "Hypotonia" [OMIM:Hypotonia]
OMIM: "Hypotonia (1 patient)" [OMIM:Hypotonia (1 patient)]
OMIM: "Hypotonia (2 patients)" [OMIM:Hypotonia (2 patients)]
OMIM: "Hypotonia (45%)" [OMIM:Hypotonia (45%)]
OMIM: "Hypotonia (96%)" [OMIM:Hypotonia (96%)]
OMIM: "Hypotonia (CVS+)" [OMIM:Hypotonia (CVS+)]
OMIM: "Hypotonia (HCS and 2p21del)" [OMIM:Hypotonia (HCS and 2p21del)]
OMIM: "Hypotonia (congenital form)" [OMIM:Hypotonia (congenital form)]
OMIM: "Hypotonia (early infancy)" [OMIM:Hypotonia (early infancy)]
OMIM: "Hypotonia (early-onset form)" [OMIM:Hypotonia (early-onset form)]
OMIM: "Hypotonia (in 1/4 patients)" [OMIM:Hypotonia (in 1/4 patients)]
OMIM: "Hypotonia (in infancy)" [OMIM:Hypotonia (in infancy)]
OMIM: "Hypotonia (in males)" [OMIM:Hypotonia (in males)]
OMIM: "Hypotonia (in some patients)" [OMIM:Hypotonia (in some patients)]
OMIM: "Hypotonia (less common)" [OMIM:Hypotonia (less common)]
OMIM: "Hypotonia (mild)" [OMIM:Hypotonia (mild)]
OMIM: "Hypotonia (neonatal)" [OMIM:Hypotonia (neonatal)]
OMIM: "Hypotonia (newborn)" [OMIM:Hypotonia (newborn)]
OMIM: "Hypotonia (rare)" [OMIM:Hypotonia (rare)]
OMIM: "Hypotonia (type I and type II, infantile)" [OMIM:Hypotonia (type I and type II, infantile)]
OMIM: "Hypotonia (untreated hypothyroidism)" [OMIM:Hypotonia (untreated hypothyroidism)]
OMIM: "Lower limb muscle weakness (in 2 of 3 families)" [OMIM:Lower limb muscle weakness (in 2 of 3 families)]
OMIM: "Lower limb muscle weakness (occurs later)" [OMIM:Lower limb muscle weakness (occurs later)]
OMIM: "Muscle weakness (1 patient)" [OMIM:Muscle weakness (1 patient)]
OMIM: "Muscle weakness (CVS+)" [OMIM:Muscle weakness (CVS+)]
OMIM: "Muscle weakness (in 90% of patients)" [OMIM:Muscle weakness (in 90% of patients)]
OMIM: "Muscle weakness (in some patients)" [OMIM:Muscle weakness (in some patients)]
OMIM: "Muscle weakness (increases with age)" [OMIM:Muscle weakness (increases with age)]
OMIM: "Muscle weakness (type I)" [OMIM:Muscle weakness (type I)]
OMIM: "Muscle weakness, lower limbs" [OMIM:Muscle weakness, lower limbs]
OMIM: "No muscle weakness" [OMIM:No muscle weakness]
OMIM: "Trunk muscle weakness" [OMIM:Trunk muscle weakness]
UMLS:C0026827 "Muscle hypotonia" [Orphanet:43330]
UMLS:C0151786 "Muscle Weakness" [Orphanet:44150]
Is a (Direct Parents):
Orphanet Muscle anomalies
Orphanet Muscular hypotonia
HPO         Abnormality of muscle physiology
MedDRA Muscle weakness conditions
Orphanet [DEL]Motor deficit/trouble
MedDRA Muscle tone abnormalities
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle physiology(HPO:0011804)
             Muscle weakness(HPO:0001324)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Muscle disorders(MedDRA:10028302)
       Muscle tone abnormalities(MedDRA:10028343)
          Muscle weakness(HPO:0001324)
       Muscle weakness conditions(MedDRA:10062913)
          Muscle weakness(HPO:0001324)
Database Frequency: 859 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17p11.2 microduplication syndrome (Orphanet:1713)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
1p36 deletion syndrome (Orphanet:1606)
2-methylbutyryl-CoA dehydrogenase deficiency (Orphanet:79157)
22q11.2 microduplication syndrome (Orphanet:1727)
2p21 microdeletion syndrome (Orphanet:163693)
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY (OMIM:210210)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
3C syndrome (Orphanet:7)
4-hydroxybutyric aciduria (Orphanet:22)
48,XXYY syndrome (Orphanet:10)
4q21 microdeletion syndrome (Orphanet:238750)
5p13 microduplication syndrome (Orphanet:329802)
5q14.3 microdeletion syndrome (Orphanet:228384)
8q21.11 microdeletion syndrome (Orphanet:284160)
ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY (OMIM:614055)
ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
ACTH-dependent Cushing syndrome (Orphanet:99892)
ACTH-independent Cushing syndrome (Orphanet:99893)
ACTH-independent macronodular adrenal hyperplasia (Orphanet:189427)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
ADENOSINE MONOPHOSPHATE DEAMINASE 1 (OMIM:102770)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
AICA-ribosiduria (Orphanet:250977)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG1-CDG (Orphanet:79327)
ALG13-CDG (Orphanet:324422)
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:612069)
AMYOTROPHIC LATERAL SCLEROSIS 12 (OMIM:613435)
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613954)
AMYOTROPHIC LATERAL SCLEROSIS 17 (OMIM:614696)
AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
APNEA, CENTRAL SLEEP (OMIM:207720)
ARIMA SYNDROME (OMIM:243910)
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 (OMIM:613404)
ATAXIA-MICROCEPHALY-CATARACT SYNDROME (OMIM:208870)
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 (OMIM:615919)
ATONIC-ASTATIC SYNDROME OF FOERSTER (OMIM:209100)
ATTRV122I amyloidosis (Orphanet:85451)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
Acid phosphatase deficiency (Orphanet:35121)
Acrocallosal syndrome (Orphanet:36)
Acromegaly (Orphanet:963)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins (Orphanet:217371)
Acute intermittent porphyria (Orphanet:79276)
Acyl-CoA dehydrogenase 9 deficiency (Orphanet:99901)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adiposis dolorosa (Orphanet:36397)
Adult Still's disease (Orphanet:829)
Adult intestinal botulism (Orphanet:178487)
Adult polyglucosan body disease (Orphanet:206583)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Aggressive systemic mastocytosis (Orphanet:98850)
Aicardi syndrome (Orphanet:50)
Alexander disease (Orphanet:58)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet:79281)
Alpha-crystallinopathy (Orphanet:98910)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alpha-thalassemia - myelodysplastic syndrome (Orphanet:231401)
Alport syndrome (Orphanet:63)
Amish infantile epilepsy syndrome (Orphanet:171714)
Amyotrophic lateral sclerosis (Orphanet:803)
Amyotrophic lateral sclerosis-parkinsonism-dementia complex (Orphanet:90020)
Angelman syndrome (Orphanet:72)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Antisynthetase syndrome (Orphanet:81)
Arachnoiditis (Orphanet:137817)
Arnold-Chiari malformation type I (Orphanet:268882)
Arnold-Chiari malformation type II (Orphanet:1136)
Arterial tortuosity syndrome (Orphanet:3342)
Aspartylglucosaminuria (Orphanet:93)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia with vitamin E deficiency (Orphanet:96)
Athyreosis (Orphanet:95713)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Atypical teratoid tumor (Orphanet:99966)
Autism spectrum disorder-epilepsy-arthrogryposis syndrome (Orphanet:370943)
Autoimmune hemolytic anemia (Orphanet:98375)
Autoimmune hemolytic anemia, cold type (Orphanet:228312)
Autoimmune hemolytic anemia, warm type (Orphanet:90033)
Autosomal agammaglobulinemia (Orphanet:33110)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant congenital benign spinal muscular atrophy (Orphanet:1216)
Autosomal dominant hypocalcemia (Orphanet:428)
Autosomal dominant hypophosphatemic rickets (Orphanet:89937)
Autosomal dominant limb-girdle muscular dystrophy type 1H (Orphanet:238755)
Autosomal dominant myoglobinuria (Orphanet:99846)
Autosomal dominant spastic paraplegia type 42 (Orphanet:171863)
Autosomal recessive ataxia due to ubiquinone deficiency (Orphanet:139485)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet:1170)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive infantile hypercalcemia (Orphanet:300547)
Autosomal recessive limb girdle muscular dystrophy type 2A (Orphanet:267)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive limb-girdle muscular dystrophy type 2T (Orphanet:363623)
Autosomal recessive spastic paraplegia type 30 (Orphanet:101010)
Autosomal recessive spastic paraplegia type 49 (Orphanet:320385)
B4GALT1-CDG (Orphanet:79332)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARTTER SYNDROME, TYPE 4A (OMIM:602522)
BARTTER SYNDROME, TYPE 4B (OMIM:613090)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY (OMIM:210550)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Babesiosis (Orphanet:108)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 7 (OMIM:615984)
Bardet-Biedl syndrome 8 (OMIM:615985)
Becker muscular dystrophy (Orphanet:98895)
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion (Orphanet:231130)
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet:231117)
Behçet disease (Orphanet:117)
Benign familial infantile seizures (Orphanet:306)
Benign recurrent intrahepatic cholestasis (Orphanet:65682)
Beta-mannosidosis (Orphanet:118)
Beta-thalassemia (Orphanet:848)
Beta-thalassemia major (Orphanet:231214)
Biotinidase deficiency (Orphanet:79241)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Bohring-Opitz syndrome (Orphanet:97297)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Botulism (Orphanet:1267)
Brain-lung-thyroid syndrome (Orphanet:209905)
C syndrome (Orphanet:1308)
CACH syndrome (Orphanet:135)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CANDLE syndrome (Orphanet:325004)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 1 (OMIM:604377)
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASEDEFICIENCY 2 (OMIM:615119)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION (OMIM:300619)
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS (OMIM:601338)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 (OMIM:224050)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY (OMIM:215510)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CINCA syndrome (Orphanet:1451)
CK syndrome (Orphanet:251383)
CLN1 disease (Orphanet:228329)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
CODAS syndrome (Orphanet:1458)
COG4-CDG (Orphanet:263501)
CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
CREST syndrome (Orphanet:90290)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
CYCLIC VOMITING SYNDROME (OMIM:500007)
Camurati-Engelmann disease (Orphanet:1328)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Cardiomyopathy, familial restrictive, 1 (OMIM:115210)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carney triad (Orphanet:139411)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Carnitine palmitoyl transferase II deficiency (Orphanet:157)
Carnitine palmitoyl transferase II deficiency, myopathic form (Orphanet:228302)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Carnitine uptake deficiency (Orphanet:158)
Carnitine-acylcarnitine translocase deficiency (Orphanet:159)
Castleman disease (Orphanet:160)
Central congenital hypothyroidism (Orphanet:226298)
Cerebellar ataxia, Cayman type (Orphanet:94122)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebrotendinous xanthomatosis (Orphanet:909)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet:293955)
Childhood-onset hypophosphatasia (Orphanet:247667)
Cholangiocarcinoma (Orphanet:70567)
Cholera (Orphanet:173)
Cholestasis - lymphedema (Orphanet:1414)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Chronic recurrent multifocal osteomyelitis (Orphanet:324964)
Chédiak-Higashi syndrome (Orphanet:167)
Classic maple syrup urine disease (Orphanet:268145)
Classic multiminicore myopathy (Orphanet:324604)
Classical phenylketonuria (Orphanet:79254)
Cobb syndrome (Orphanet:53721)
Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Cohen syndrome (Orphanet:193)
Cold agglutinin disease (Orphanet:56425)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Combined oxidative phosphorylation defect type 7 (Orphanet:254930)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet:300313)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Orphanet:280671)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital myopathy with internal nuclei and atypical cores (Orphanet:319160)
Congenital or early infantile CACH syndrome (Orphanet:157713)
Constitutional megaloblastic anemia with severe neurologic disease (Orphanet:319651)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofrontonasal dysplasia (Orphanet:1520)
Cree leukoencephalopathy (Orphanet:99854)
Crimean-Congo hemorrhagic fever (Orphanet:99827)
Cronkhite-Canada syndrome (Orphanet:2930)
Cryoglobulinemic vasculitis (Orphanet:91138)
Cushing syndrome (Orphanet:553)
Cushing syndrome due to ectopic ACTH secretion (Orphanet:99889)
Cutaneous mastocytosis (Orphanet:66646)
Cutis laxa (Orphanet:209)
Cyclic neutropenia (Orphanet:2686)
Cystinosis (Orphanet:213)
D-2-@HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
D-2-hydroxyglutaric aciduria (Orphanet:79315)
DDOST-CDG (Orphanet:300536)
DEND syndrome (Orphanet:79134)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DK1-CDG (Orphanet:91131)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
DPM3-CDG (Orphanet:263494)
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Deafness - lymphedema - leukemia (Orphanet:3226)
Dehydratase deficiency (Orphanet:1578)
Dejerine-Sottas syndrome (Orphanet:64748)
Dermatomyositis (Orphanet:221)
Desmin-related myopathy with Mallory body-like inclusions (Orphanet:84132)
Developmental delay with autism spectrum disorder and gait instability (Orphanet:329195)
Diaphanospondylodysostosis (Orphanet:66637)
Diffuse cutaneous systemic sclerosis (Orphanet:220393)
Dihydropteridine reductase deficiency (Orphanet:226)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dilated cardiomyopathy with ataxia (Orphanet:66634)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 1q (Orphanet:36367)
Distal monosomy 6p (Orphanet:96125)
Distal myopathy with posterior leg and anterior hand involvement (Orphanet:63273)
Distomatosis (Orphanet:1685)
Dorfman-Chanarin disease (Orphanet:98907)
Drug-induced autoimmune hemolytic anemia (Orphanet:90037)
Dubin-Johnson syndrome (Orphanet:234)
Dubowitz syndrome (Orphanet:235)
Duchenne muscular dystrophy (Orphanet:98896)
EAST syndrome (Orphanet:199343)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (OMIM:130070)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
EPILEPSY, HOT WATER, 1 (OMIM:613339)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 (OMIM:615006)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (OMIM:300672)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 (OMIM:612164)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
EPISODIC ATAXIA, TYPE 8 (OMIM:616055)
EPISODIC MUSCLE WEAKNESS, X-LINKED (OMIM:300211)
Early infantile epileptic encephalopathy without suppression burst (Orphanet:369894)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Ebola hemorrhagic fever (Orphanet:319218)
Ebstein malformation (Orphanet:1880)
Ehlers-Danlos syndrome due to tenascin-X deficiency (Orphanet:230839)
Ehlers-Danlos syndrome type 7A (Orphanet:99875)
Ehlers-Danlos syndrome type 7B (Orphanet:99876)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, hypermobility type (Orphanet:285)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Emanuel syndrome (Orphanet:96170)
Encephalopathy due to prosaposin deficiency (Orphanet:139406)
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy,and cataracts (OMIM:225740)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet:319678)
Eosinophilic fasciitis (Orphanet:3165)
Eosinophilic granuloma (Orphanet:99871)
Eosinophilic granulomatosis with polyangiitis (Orphanet:183)
Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257)
Episodic ataxia type 3 (Orphanet:79135)
Episodic ataxia type 7 (Orphanet:209970)
Erdheim-Chester disease (Orphanet:35687)
Ethylmalonic encephalopathy (Orphanet:51188)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105550)
Fabry disease (Orphanet:324)
Familial amyloid polyneuropathy (Orphanet:85447)
Familial cold urticaria (Orphanet:47045)
Familial dysautonomia (Orphanet:1764)
Familial paroxysmal ataxia (Orphanet:97)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fanconi renotubular syndrome 1 (OMIM:134600)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Fatal multiple mitochondrial dysfunction syndrome (Orphanet:289573)
Fetal Gaucher disease (Orphanet:85212)
Fetal akinesia-cerebral and retinal hemorrhage syndrome (Orphanet:363409)
Focal myositis (Orphanet:48918)
Follicular lymphoma (Orphanet:545)
Foodborne botulism (Orphanet:228371)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontotemporal dementia with motor neuron disease (Orphanet:275872)
Fructose-1,6-bisphosphatase deficiency (Orphanet:348)
Fucosidosis (Orphanet:349)
Fumaric aciduria (Orphanet:24)
GCS1-CDG (Orphanet:79330)
GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
GM2-gangliosidosis, AB variant (Orphanet:309246)
GRAVES DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:275000)
Galactose epimerase deficiency (Orphanet:79238)
Galloway-Mowat syndrome (Orphanet:2065)
Gamma heavy-chain disease (Orphanet:100026)
Gastrointestinal stromal tumor (Orphanet:44890)
Gaucher disease (Orphanet:355)
Gaucher disease type 1 (Orphanet:77259)
Gaucher disease type 3 (Orphanet:77261)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type (Orphanet:79399)
Genetic recurrent myoglobinuria (Orphanet:99845)
Genitopatellar syndrome (Orphanet:85201)
Giant cell arteritis (Orphanet:397)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Glycine encephalopathy (Orphanet:407)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Glycogen storage disease due to glycogen branching enzyme deficiency (Orphanet:367)
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form (Orphanet:308712)
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form (Orphanet:308684)
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form (Orphanet:308698)
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form (Orphanet:308670)
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form (Orphanet:308655)
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form (Orphanet:308638)
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form (Orphanet:308621)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to glycogenin deficiency (Orphanet:263297)
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (Orphanet:79240)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency (Orphanet:137625)
Glycogen storage disease due to muscle glycogen phosphorylase deficiency (Orphanet:368)
Glycogen storage disease due to muscle phosphofructokinase deficiency (Orphanet:371)
Glycogen storage disease due to muscle phosphorylase kinase deficiency (Orphanet:715)
Glycogen storage disease due to phosphorylase kinase deficiency (Orphanet:370)
Granulomatosis with polyangiitis (Orphanet:900)
Griscelli disease type 1 (Orphanet:79476)
Grubben-de Cock-Borghgraef syndrome (Orphanet:2101)
Gómez-López-Hernández syndrome (Orphanet:1532)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 (OMIM:267700)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 (OMIM:603553)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
HYPOMAGNESEMIA 6, RENAL (OMIM:613882)
Hairy cell leukemia variant (Orphanet:300878)
Hawkinsinuria (Orphanet:2118)
Hemochromatosis type 4 (Orphanet:139491)
Hemochromatosis, type 2A (OMIM:602390)
Hemolytic anemia due to glucophosphate isomerase deficiency (Orphanet:712)
Hemorrhagic fever - renal syndrome (Orphanet:340)
Hennekam-Beemer syndrome (Orphanet:2135)
Hereditary folate malabsorption (Orphanet:90045)
Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet:157215)
Hereditary myopathy with lactic acidosis due to ISCU deficiency (Orphanet:43115)
Hereditary neuropathy with liability to pressure palsies (Orphanet:640)
Hereditary nonpolyposis colon cancer (Orphanet:144)
Hereditary thermosensitive neuropathy (Orphanet:84093)
Hermansky-Pudlak syndrome (Orphanet:79430)
Hodgkin lymphoma (Orphanet:98293)
Hodgkin lymphoma, classical (Orphanet:391)
Holocarboxylase synthetase deficiency (Orphanet:79242)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)
Hughes-Stovin syndrome (Orphanet:228116)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hyperkalemic periodic paralysis (Orphanet:682)
Hyperlysinemia, type I (OMIM:238700)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypernychthemeral syndrome (Orphanet:73267)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hyperprolinemia type 1 (Orphanet:419)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Hypothyroidism due to deficient transcription factors involved in pituitary development or function (Orphanet:226307)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Iatrogenic botulism (Orphanet:254509)
Immunoglobulin A vasculitis (Orphanet:761)
Inclusion body myositis (Orphanet:611)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Infantile hypophosphatasia (Orphanet:247651)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Infantile-onset ascending hereditary spastic paralysis (Orphanet:293168)
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (Orphanet:284332)
Inhalational botulism (Orphanet:254504)
Insulin-resistance syndrome type A (Orphanet:2297)
Intellectual deficiency - hypotonia - spasticity - sleep disorder (Orphanet:356996)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration (Orphanet:85317)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Intellectual disability-strabismus syndrome (Orphanet:363528)
Intermittent maple syrup urine disease (Orphanet:268173)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Isolated agammaglobulinemia (Orphanet:229717)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
Isolated sulfite oxidase deficiency (Orphanet:99731)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
Isolated thyrotropin-releasing hormone deficiency (Orphanet:238670)
JMP syndrome (Orphanet:324999)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 15 (OMIM:614464)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome 5 (OMIM:610188)
Joubert syndrome 6 (OMIM:610688)
Joubert syndrome with hepatic defect (Orphanet:1454)
Juvenile Paget disease (Orphanet:2801)
Juvenile dermatomyositis (Orphanet:93672)
Juvenile or adult CACH syndrome (Orphanet:157719)
Juvenile primary lateral sclerosis (Orphanet:247604)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KETOADIPICACIDURIA (OMIM:245130)
Kaler-Garrity-Stern syndrome (Orphanet:2324)
Kallmann syndrome (Orphanet:478)
Kawasaki disease (Orphanet:2331)
Kearns-Sayre syndrome (Orphanet:480)
Klatskin tumor (Orphanet:99978)
Kleefstra syndrome (Orphanet:261494)
Koolen-De Vries syndrome (Orphanet:96169)
LESCH-NYHAN SYNDROME (OMIM:300322)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
Langer-Giedion syndrome (Orphanet:502)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Lassa fever (Orphanet:99824)
Late infantile CACH syndrome (Orphanet:157716)
Lathosterolosis (Orphanet:46059)
Leber plus disease (Orphanet:99718)
Legionellosis (Orphanet:549)
Legius syndrome (Orphanet:137605)
Leigh syndrome (Orphanet:506)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet:330050)
Leukocyte adhesion deficiency type II (Orphanet:99843)
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation (Orphanet:137898)
Liddle syndrome (Orphanet:526)
Limited cutaneous systemic sclerosis (Orphanet:220402)
Limited systemic sclerosis (Orphanet:220407)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lujo hemorrhagic fever (Orphanet:319213)
Lyell syndrome (Orphanet:537)
Lyme disease (Orphanet:91546)
Lymphedema - distichiasis (Orphanet:33001)
Lysinuric protein intolerance (Orphanet:470)
MEDNIK syndrome (Orphanet:171851)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
MEGDEL syndrome (Orphanet:352328)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (OMIM:612621)
MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
MERRF (Orphanet:551)
METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) (OMIM:615418)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
MITOCHONDRIAL MYOPATHY (OMIM:251900)
MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT (OMIM:251945)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MPI-CDG (Orphanet:79319)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 (OMIM:614299)
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY (OMIM:253590)
MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (OMIM:254100)
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES (OMIM:159050)
MUSCULAR DYSTROPHY, SCAPULOHUMERAL (OMIM:600416)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 (OMIM:614830)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4 (OMIM:613152)
MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE (OMIM:159100)
MYASTHENIC SYNDROME, CONGENITAL, 13 (OMIM:614750)
MYASTHENIC SYNDROME, CONGENITAL, 18 (OMIM:616330)
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616314)
MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (OMIM:268200)
MYOPATHY, CENTRONUCLEAR, 3 (OMIM:614408)
MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA (OMIM:254950)
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
MYXEDEMA (OMIM:255900)
Macrophagic myofasciitis (Orphanet:592)
Malignant atrophic papulosis (Orphanet:679)
Malonic aciduria (Orphanet:943)
Mandibuloacral dysplasia (Orphanet:2457)
Mantle cell lymphoma (Orphanet:52416)
Maple syrup urine disease (Orphanet:511)
Marburg hemorrhagic fever (Orphanet:99826)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome (Orphanet:558)
Marinesco-Sjögren syndrome (Orphanet:559)
Marshall syndrome with periodic fever (Orphanet:42642)
Marshall-Smith syndrome (Orphanet:561)
Mast cell sarcoma (Orphanet:66661)
Mastocytosis (Orphanet:98292)
Maternally-inherited Leigh syndrome (Orphanet:255210)
Maternally-inherited cardiomyopathy and hearing loss (Orphanet:1349)
Maternally-inherited diabetes and deafness (Orphanet:225)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Medium chain acyl-CoA dehydrogenase deficiency (Orphanet:42)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
Metachromatic leukodystrophy (Orphanet:512)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Mevalonic aciduria (Orphanet:29)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (Orphanet:255235)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)
Mitochondrial DNA depletion syndrome, myopathic form (Orphanet:254875)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet:314637)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet:254864)
Mitochondrial trifunctional protein deficiency (Orphanet:746)
Mixed connective tissue disease (Orphanet:809)
Mixed-type autoimmune hemolytic anemia (Orphanet:90036)
Monomelic amyotrophy (Orphanet:65684)
Monosomy 18q (Orphanet:1600)
Monosomy 9p (Orphanet:261112)
Mowat-Wilson syndrome (Orphanet:2152)
Mucolipidosis type 3 (Orphanet:577)
Mucolipidosis type 4 (Orphanet:578)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multicentric reticulohistiocytosis (Orphanet:139436)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
Multiple osteochondromas (Orphanet:321)
Muscular pseudohypertrophy - hypothyroidism (Orphanet:2349)
Myoclonus-dystonia syndrome (Orphanet:36899)
Myopathy and diabetes mellitus (Orphanet:2596)
Myopathy due to myoadenylate deaminase deficiency (OMIM:615511)
Myotonia fluctuans (Orphanet:99734)
Myotonia permanens (Orphanet:99735)
NEMALINE MYOPATHY 4 (OMIM:609285)
NEMALINE MYOPATHY 6 (OMIM:609273)
NEMALINE MYOPATHY 7 (OMIM:610687)
NEMALINE MYOPATHY 9 (OMIM:615731)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB (OMIM:607641)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Nakajo-Nishimura syndrome (Orphanet:2615)
Narcolepsy-cataplexy (Orphanet:2073)
Native American myopathy (Orphanet:168572)
Navajo neurohepatopathy (Orphanet:255229)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Neuralgic amyotrophy (Orphanet:2901)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neurogenic thoracic outlet syndrome (Orphanet:100073)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Neutral lipid storage disease (Orphanet:165)
Neutral lipid storage myopathy (Orphanet:98908)
Niemann-Pick disease type A (Orphanet:77292)
Nijmegen breakage syndrome (Orphanet:647)
Nipah virus disease (Orphanet:99825)
Nodular lymphocyte predominant Hodgkin lymphoma (Orphanet:86893)
Non-histaminic angioedema (Orphanet:658)
Non-polyposis Turcot syndrome (Orphanet:99817)
Noonan syndrome (Orphanet:648)
Norrie disease (Orphanet:649)
O'Sullivan-McLeod syndrome (Orphanet:99965)
OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA (OMIM:258470)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculodentodigital dysplasia (Orphanet:2710)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Opsismodysplasia (Orphanet:2746)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Osteoporosis - pseudoglioma (Orphanet:2788)
Ovarioleukodystrophy (Orphanet:99853)
Oxoglutaricaciduria (Orphanet:31)
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS (OMIM:600399)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE (OMIM:608097)
PEROXISOME BIOGENESIS DISORDER 11B (OMIM:614885)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES (OMIM:602196)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
PMM2-CDG (Orphanet:79318)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 (OMIM:609283)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 (OMIM:610131)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:265400)
Palmoplantar keratoderma-spastic paralysis syndrome (Orphanet:2201)
Paramyotonia congenita of Von Eulenburg (Orphanet:684)
Patent arterial duct (Orphanet:706)
Pediatric systemic sclerosis (Orphanet:93567)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Peripheral hypothyroidism (Orphanet:226310)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Pierson syndrome (Orphanet:2670)
Pitt-Hopkins syndrome (Orphanet:2896)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polycythemia vera (Orphanet:729)
Polymyositis (Orphanet:732)
Pontiac fever (Orphanet:99748)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Porphyria (Orphanet:738)
Porphyria due to ALA dehydratase deficiency (Orphanet:100924)
Potassium-aggravated myotonia (Orphanet:612)
Primary CD59 deficiency (Orphanet:169464)
Primary cutaneous anaplastic large cell lymphoma (Orphanet:300865)
Primary familial polycythemia (Orphanet:90042)
Primary intestinal lymphangiectasia (Orphanet:90362)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Primary pigmented nodular adrenocortical disease (Orphanet:189439)
Progressive demyelinating neuropathy with bilateral striatal necrosis (Orphanet:217396)
Progressive myoclonic epilepsy with dystonia (Orphanet:352596)
Progressive nodular histiocytosis (Orphanet:158022)
Progressive pseudorheumatoid arthropathy of childhood (Orphanet:1159)
Proteasome disability syndrome (Orphanet:324977)
Proximal myotonic myopathy (Orphanet:606)
Proximal spinal muscular atrophy type 2 (Orphanet:83418)
Proximal spinal muscular atrophy type 3 (Orphanet:83419)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Pseudohypoaldosteronism type 2 (Orphanet:757)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
Pulmonary arterial hypertension (Orphanet:182090)
Purine nucleoside phosphorylase deficiency (Orphanet:760)
Pyle disease (Orphanet:3005)
Pyogenic arthritis - pyoderma gangrenosum - acne (Orphanet:69126)
Pyridoxine-dependent epilepsy (Orphanet:3006)
Pyruvate carboxylase deficiency (Orphanet:3008)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
Recombinant 8 syndrome (Orphanet:96167)
Relapsing polychondritis (Orphanet:728)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Rett syndrome (Orphanet:778)
Reynolds syndrome (Orphanet:779)
Rheumatic fever (Orphanet:3099)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Riboflavin transporter deficiency (Orphanet:97229)
Rift valley fever (Orphanet:319251)
Rigid spine syndrome (Orphanet:97244)
Roifman syndrome (Orphanet:353298)
Rosaï-Dorfman disease (Orphanet:158014)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SLC35A2-CDG (Orphanet:356961)
SRD5A3-CDG (Orphanet:324737)
STIFF SKIN SYNDROME (OMIM:184900)
STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL (OMIM:500003)
Salla disease (Orphanet:309334)
Sandhoff disease (Orphanet:796)
Sandhoff disease, infantile form (Orphanet:309155)
Scheie syndrome (Orphanet:93474)
Schnitzler syndrome (Orphanet:37748)
Schwartz-Jampel syndrome (Orphanet:800)
Scleroderma (Orphanet:801)
Septo-optic dysplasia (Orphanet:3157)
Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329)
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:35123)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Singleton-Merten dysplasia (Orphanet:85191)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sneddon syndrome (Orphanet:820)
Spastic paraplegia type 2 (Orphanet:99015)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spinocerebellar ataxia type 1 (Orphanet:98755)
Spinocerebellar ataxia type 13 (Orphanet:98768)
Spinocerebellar ataxia type 2 (Orphanet:98756)
Spinocerebellar ataxia type 5 (Orphanet:98766)
Spondylo-ocular syndrome (Orphanet:85194)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spontaneous periodic hypothermia (Orphanet:29822)
Sporadic Leigh syndrome (Orphanet:255199)
Steinert myotonic dystrophy (Orphanet:273)
Stevens-Johnson syndrome (Orphanet:36426)
Stiff skin syndrome (Orphanet:2833)
Stüve-Wiedemann syndrome (Orphanet:3206)
Sweet syndrome (Orphanet:3243)
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers (Orphanet:206546)
Synaptic congenital myasthenic syndromes (Orphanet:98915)
Syndromic X-linked intellectual deficit 7 (Orphanet:85274)
Syndromic microphthalmia type 5 (Orphanet:178364)
Syringomyelia (Orphanet:3280)
Systemic capillary leak syndrome (Orphanet:188)
Systemic sclerosis (Orphanet:90291)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
TMCO1 defect syndrome (Orphanet:228407)
TMEM165-CDG (Orphanet:314667)
TRICHORRHEXIS NODOSA SYNDROME (OMIM:275550)
Takayasu arteritis (Orphanet:3287)
Tay-Sachs disease (Orphanet:845)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 12p (Orphanet:884)
Thiamine-responsive maple syrup urine disease (Orphanet:268184)
Thoracic outlet syndrome (Orphanet:97330)
Thymic carcinoma (Orphanet:99868)
Thymic epithelial neoplasm (Orphanet:3398)
Thymoma (Orphanet:99867)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Thyroid hypoplasia (Orphanet:95720)
Thyrotoxic periodic paralysis (Orphanet:79102)
Toriello-Carey syndrome (Orphanet:3338)
Toxin-mediated infectious botulism (Orphanet:230800)
Transcobalamin deficiency (Orphanet:859)
Transient congenital hypothyroidism (Orphanet:178045)
Triple A syndrome (Orphanet:869)
Typhoid (Orphanet:99745)
Tyrosinemia type 1 (Orphanet:882)
VALINEMIA (OMIM:277100)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
VISCERAL STEATOSIS, CONGENITAL (OMIM:228100)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Very long chain acyl-CoA dehydrogenase deficiency (Orphanet:26793)
Vici syndrome (Orphanet:1493)
Viral hemorrhagic fever (Orphanet:341)
Vitamin B12-responsive methylmalonic acidemia type cblA (Orphanet:79310)
Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
Waldenström macroglobulinemia (Orphanet:33226)
Walker-Warburg syndrome (Orphanet:899)
Warsaw breakage syndrome (Orphanet:280558)
Weaver syndrome (Orphanet:3447)
Whipple disease (Orphanet:3452)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Wilson disease (Orphanet:905)
Wilson-Turner syndrome (Orphanet:3459)
Wiskott-Aldrich syndrome (Orphanet:906)
Wolf-Hirschhorn syndrome (Orphanet:280)
Worster-Drought syndrome (Orphanet:3465)
Wound botulism (Orphanet:178475)
X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075)
X-linked Charcot-Marie-Tooth disease type 2 (Orphanet:101076)
X-linked Charcot-Marie-Tooth disease type 3 (Orphanet:101077)
X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078)
X-linked Charcot-Marie-Tooth disease type 5 (Orphanet:99014)
X-linked agammaglobulinemia (Orphanet:47)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
XYLOSIDASE DEFICIENCY (OMIM:278900)
Xeroderma pigmentosum (Orphanet:910)
Yunis-Varon syndrome (Orphanet:3472)
Zimmermann-Laband syndrome (Orphanet:3473)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
[DEL] LEIGH SYNDROME, X-LINKED (OMIM:308930)
[DEL] MUSCULAR DYSTROPHY, BECKER TYPE (OMIM:300376)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
[DEL] SENGERS SYNDROME (OMIM:212350)