|
2-methylbutyryl-CoA dehydrogenase deficiency
|
(Orphanet:79157)
|
|
4-hydroxybutyric aciduria
|
(Orphanet:22)
|
|
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE
|
(OMIM:613500)
|
|
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
|
(OMIM:613502)
|
|
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
|
(OMIM:612692)
|
|
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
|
(OMIM:615214)
|
|
AICARDI-GOUTIERES SYNDROME 4
|
(OMIM:610333)
|
|
ALG11-CDG
|
(Orphanet:280071)
|
|
ALG13-CDG
|
(Orphanet:324422)
|
|
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
|
(OMIM:615559)
|
|
Acrodermatitis enteropathica, zinc deficiency type
|
(Orphanet:37)
|
|
Adenylosuccinate lyase deficiency
|
(Orphanet:46)
|
|
Adult-onset autosomal recessive sideroblastic anemia
|
(Orphanet:255132)
|
|
Aicardi-Goutières syndrome
|
(Orphanet:51)
|
|
Alagille syndrome due to 20p12 microdeletion
|
(Orphanet:261600)
|
|
Alexander disease
|
(Orphanet:58)
|
|
Alpha-N-acetylgalactosaminidase deficiency
|
(Orphanet:3137)
|
|
Arginine:glycine amidinotransferase deficiency
|
(Orphanet:35704)
|
|
Aromatic L-amino acid decarboxylase deficiency
|
(Orphanet:35708)
|
|
Atypical Rett syndrome
|
(Orphanet:3095)
|
|
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
|
(Orphanet:324530)
|
|
Autosomal agammaglobulinemia
|
(Orphanet:33110)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2K
|
(Orphanet:99944)
|
|
Autosomal dominant hyper-IgE syndrome
|
(Orphanet:2314)
|
|
Autosomal dominant palmoplantar keratoderma and congenital alopecia
|
(Orphanet:1010)
|
|
Autosomal dominant severe congenital neutropenia
|
(Orphanet:486)
|
|
Autosomal recessive cerebelloparenchymal disorder type 3
|
(Orphanet:1170)
|
|
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
|
(Orphanet:324262)
|
|
Autosomal recessive dopa-responsive dystonia
|
(Orphanet:101150)
|
|
Autosomal recessive hyper-IgE syndrome
|
(Orphanet:169446)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2K
|
(Orphanet:86812)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2N
|
(Orphanet:206559)
|
|
Autosomal recessive optic atrophy, OPA6 type
|
(Orphanet:99012)
|
|
Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia
|
(Orphanet:30924)
|
|
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
|
(Orphanet:98)
|
|
BILE ACID MALABSORPTION, PRIMARY
|
(OMIM:613291)
|
|
BLEEDING DISORDER, PLATELET-TYPE, 17
|
(OMIM:187900)
|
|
Bazex-Dupré-Christol syndrome
|
(Orphanet:113)
|
|
Beta-ureidopropionase deficiency
|
(Orphanet:65287)
|
|
Bifunctional enzyme deficiency
|
(Orphanet:300)
|
|
Biliary atresia
|
(Orphanet:30391)
|
|
Blackfan-Diamond anemia
|
(Orphanet:124)
|
|
Bleeding diathesis due to glycoprotein VI deficiency
|
(Orphanet:98885)
|
|
CEDNIK syndrome
|
(Orphanet:66631)
|
|
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2
|
(OMIM:610185)
|
|
CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE
|
(OMIM:605388)
|
|
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
|
(OMIM:118230)
|
|
CHOREOATHETOSIS, FAMILIAL INVERTED
|
(OMIM:118750)
|
|
CILIARY DYSKINESIA, PRIMARY, 18
|
(OMIM:614874)
|
|
CILIARY DYSKINESIA, PRIMARY, 25
|
(OMIM:615482)
|
|
CILIARY DYSKINESIA, PRIMARY, 5
|
(OMIM:608647)
|
|
Carnitine palmitoyl transferase II deficiency, severe infantile form
|
(Orphanet:228305)
|
|
Channelopathy-associated congenital insensitivity to pain
|
(Orphanet:88642)
|
|
Charcot-Marie-Tooth disease type 4A
|
(Orphanet:99948)
|
|
Charcot-Marie-Tooth disease type 4H
|
(Orphanet:99954)
|
|
Chylomicron retention disease
|
(Orphanet:71)
|
|
Classic multiminicore myopathy
|
(Orphanet:324604)
|
|
Coats plus syndrome
|
(Orphanet:313838)
|
|
Combined immunodeficiency with skin granulomas
|
(Orphanet:157949)
|
|
Congenital cataract-hearing loss-severe developmental delay syndrome
|
(Orphanet:300313)
|
|
Congenital cataracts - facial dysmorphism - neuropathy
|
(Orphanet:48431)
|
|
Congenital muscular dystrophy with integrin alpha-7 deficiency
|
(Orphanet:34520)
|
|
Congenital muscular dystrophy, Ullrich type
|
(Orphanet:75840)
|
|
Congenital short bowel syndrome
|
(Orphanet:2301)
|
|
Craniodiaphyseal dysplasia
|
(Orphanet:1513)
|
|
Cystic leukoencephalopathy without megalencephaly
|
(Orphanet:85136)
|
|
DDOST-CDG
|
(Orphanet:300536)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 23
|
(OMIM:609533)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 24
|
(OMIM:611022)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 28
|
(OMIM:609823)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 42
|
(OMIM:609646)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 46
|
(OMIM:609647)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 65
|
(OMIM:610248)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 68
|
(OMIM:610419)
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 84A
|
(OMIM:613391)
|
|
DPM1-CDG
|
(Orphanet:79322)
|
|
Dejerine-Sottas syndrome
|
(Orphanet:64748)
|
|
Dermatoosteolysis, Kirghizian type
|
(Orphanet:1657)
|
|
Developmental delay with autism spectrum disorder and gait instability
|
(Orphanet:329195)
|
|
Dravet syndrome
|
(Orphanet:33069)
|
|
Dyschromatosis universalis
|
(Orphanet:241)
|
|
EAST syndrome
|
(Orphanet:199343)
|
|
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMALDOMINANT
|
(OMIM:612132)
|
|
EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE
|
(OMIM:131880)
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
(OMIM:613721)
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
(OMIM:613477)
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
(OMIM:613720)
|
|
EPISODIC PAIN SYNDROME, FAMILIAL, 1
|
(OMIM:615040)
|
|
EXUDATIVE VITREORETINOPATHY 4
|
(OMIM:601813)
|
|
Early-onset myopathy with fatal cardiomyopathy
|
(Orphanet:289377)
|
|
Early-onset spastic ataxia-neuropathy syndrome
|
(Orphanet:313772)
|
|
Encephalopathy due to GLUT1 deficiency
|
(Orphanet:71277)
|
|
Epileptic encephalopathy with global cerebral demyelination
|
(Orphanet:353217)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
|
(OMIM:615272)
|
|
FEBRILE SEIZURES, FAMILIAL, 2
|
(OMIM:602477)
|
|
FEBRILE SEIZURES, FAMILIAL, 4
|
(OMIM:604352)
|
|
Familial acute necrotizing encephalopathy
|
(Orphanet:88619)
|
|
Familial cold urticaria
|
(Orphanet:47045)
|
|
Familial exudative vitreoretinopathy
|
(Orphanet:891)
|
|
Familial infantile myoclonic epilepsy
|
(Orphanet:352582)
|
|
Familial isolated congenital asplenia
|
(Orphanet:101351)
|
|
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
|
(Orphanet:280406)
|
|
Fatal infantile lactic acidosis with methylmalonic aciduria
|
(Orphanet:17)
|
|
Female restricted epilepsy with intellectual deficit
|
(Orphanet:101039)
|
|
GLYCOGEN STORAGE DISEASE IXc
|
(OMIM:613027)
|
|
Galloway-Mowat syndrome
|
(Orphanet:2065)
|
|
Generalized congenital lipodystrophy with myopathy
|
(Orphanet:228429)
|
|
Generalized pseudohypoaldosteronism type 1
|
(Orphanet:171876)
|
|
Griscelli disease
|
(Orphanet:381)
|
|
Griscelli disease type 2
|
(Orphanet:79477)
|
|
HYPERCHLORHIDROSIS, ISOLATED
|
(OMIM:143860)
|
|
HYPEREKPLEXIA 3
|
(OMIM:614618)
|
|
Hereditary folate malabsorption
|
(Orphanet:90045)
|
|
Hereditary hyperekplexia
|
(Orphanet:3197)
|
|
Hereditary hypophosphatemic rickets with hypercalciuria
|
(Orphanet:157215)
|
|
Hereditary motor and sensory neuropathy type 6
|
(Orphanet:90120)
|
|
Hereditary sensory and autonomic neuropathy type 2
|
(Orphanet:970)
|
|
Hereditary sensory and autonomic neuropathy type 4
|
(Orphanet:642)
|
|
Hereditary sensory and autonomic neuropathy type 5
|
(Orphanet:64752)
|
|
Hereditary sensory and autonomic neuropathy with spastic paraplegia
|
(Orphanet:139578)
|
|
Hyperkalemic periodic paralysis
|
(Orphanet:682)
|
|
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
|
(Orphanet:289290)
|
|
Hypocalcemic vitamin D-resistant rickets
|
(Orphanet:93160)
|
|
Hypomyelination - congenital cataract
|
(Orphanet:85163)
|
|
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
|
(Orphanet:363412)
|
|
Hypoplasminogenemia
|
(Orphanet:722)
|
|
Hypothyroidism due to TSH receptor mutations
|
(Orphanet:90673)
|
|
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
(OMIM:602540)
|
|
IMMUNODEFICIENCY 15
|
(OMIM:615592)
|
|
IMMUNODEFICIENCY 18
|
(OMIM:615615)
|
|
IMMUNODEFICIENCY 19
|
(OMIM:615617)
|
|
INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT
|
(OMIM:147430)
|
|
Infantile dystonia-parkinsonism
|
(Orphanet:238455)
|
|
Infantile neuroaxonal dystrophy
|
(Orphanet:35069)
|
|
Infantile regressive hypertriglyceridemia and hepatosteatosis
|
(Orphanet:300293)
|
|
Infantile-onset ascending hereditary spastic paralysis
|
(Orphanet:293168)
|
|
Inherited congenital spastic tetraplegia
|
(Orphanet:210141)
|
|
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
|
(Orphanet:369837)
|
|
Intellectual disability-strabismus syndrome
|
(Orphanet:363528)
|
|
Isolated focal cortical dysplasia type II
|
(Orphanet:268994)
|
|
Joubert syndrome with hepatic defect
|
(Orphanet:1454)
|
|
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
|
(OMIM:611722)
|
|
Kostmann syndrome
|
(Orphanet:99749)
|
|
L-2-hydroxyglutaric aciduria
|
(Orphanet:79314)
|
|
LOC syndrome
|
(Orphanet:2407)
|
|
Laing distal myopathy
|
(Orphanet:59135)
|
|
Leukocyte adhesion deficiency type III
|
(Orphanet:99844)
|
|
Linear and whorled nevoid hypermelanosis
|
(Orphanet:79150)
|
|
Lissencephaly type 1 due to doublecortin gene mutation
|
(Orphanet:2148)
|
|
Lysinuric protein intolerance
|
(Orphanet:470)
|
|
MAJOR AFFECTIVE DISORDER 2
|
(OMIM:309200)
|
|
MELANOSIS, UNIVERSAL
|
(OMIM:155800)
|
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
|
(OMIM:613192)
|
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
|
(OMIM:615541)
|
|
METHEMOGLOBINEMIA TYPE IV
|
(OMIM:250790)
|
|
MICROCEPHALY WITH SPASTIC QUADRIPLEGIA
|
(OMIM:251280)
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
(OMIM:613662)
|
|
MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE
|
(OMIM:614894)
|
|
MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS
|
(OMIM:601170)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4
|
(OMIM:253800)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1
|
(OMIM:613155)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6
|
(OMIM:608840)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4
|
(OMIM:613152)
|
|
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
|
(OMIM:608930)
|
|
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY
|
(OMIM:608931)
|
|
MYOPATHY, DISTAL, INFANTILE-ONSET
|
(OMIM:160300)
|
|
Mal de Meleda
|
(Orphanet:87503)
|
|
Marinesco-Sjögren syndrome
|
(Orphanet:559)
|
|
Megalencephalic leukoencephalopathy with subcortical cysts
|
(Orphanet:2478)
|
|
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 cblX
|
(Orphanet:369962)
|
|
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
|
(Orphanet:1933)
|
|
Mitochondrial DNA depletion syndrome, myopathic form
|
(Orphanet:254875)
|
|
Moderate multiminicore disease with hand involvement
|
(Orphanet:178145)
|
|
Monilethrix
|
(Orphanet:573)
|
|
Muckle-Wells syndrome
|
(Orphanet:575)
|
|
Mucolipidosis type 4
|
(Orphanet:578)
|
|
NEMALINE MYOPATHY 2
|
(OMIM:256030)
|
|
NEMALINE MYOPATHY 5
|
(OMIM:605355)
|
|
NEUROPATHY, PAINFUL
|
(OMIM:256870)
|
|
NYSTAGMUS 1, CONGENITAL, X-LINKED
|
(OMIM:310700)
|
|
NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT
|
(OMIM:164100)
|
|
Neuroectodermal melanolysosomal disease
|
(Orphanet:33445)
|
|
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
|
(OMIM:605909)
|
|
PELIZAEUS-MERZBACHER DISEASE
|
(OMIM:312080)
|
|
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE
|
(OMIM:608097)
|
|
PRESENILIN 1
|
(OMIM:104311)
|
|
PROSTATIC HYPERPLASIA, BENIGN
|
(OMIM:600082)
|
|
PSEUDOPILI ANNULATI
|
(OMIM:613241)
|
|
Pancreatic insufficiency - anemia - hyperostosis
|
(Orphanet:199337)
|
|
Paramyotonia congenita of Von Eulenburg
|
(Orphanet:684)
|
|
Paroxysmal non-kinesigenic dyskinesia
|
(Orphanet:98810)
|
|
Pelizaeus-Merzbacher-like due to GJC2 mutation
|
(Orphanet:280282)
|
|
Peroxisomal acyl-CoA oxidase deficiency
|
(Orphanet:2971)
|
|
Phosphoenolpyruvate carboxykinase 1 deficiency
|
(Orphanet:79316)
|
|
Phosphoserine aminotransferase deficiency
|
(Orphanet:284417)
|
|
Posterior amorphous corneal dystrophy
|
(Orphanet:98971)
|
|
Progressive familial intrahepatic cholestasis
|
(Orphanet:172)
|
|
Progressive familial intrahepatic cholestasis type 2
|
(Orphanet:79304)
|
|
Progressive familial intrahepatic cholestasis type 3
|
(Orphanet:79305)
|
|
Progressive osseous heteroplasia
|
(Orphanet:2762)
|
|
Progressive symmetric erythrokeratodermia
|
(Orphanet:316)
|
|
Pyruvate dehydrogenase deficiency
|
(Orphanet:765)
|
|
Pyruvate dehydrogenase phosphatase deficiency
|
(Orphanet:79246)
|
|
RETICULOENDOTHELIOSIS, X-LINKED
|
(OMIM:312500)
|
|
Recurrent infections-myelofibrosis-nephromegaly syndrome
|
(Orphanet:369852)
|
|
Renal coloboma syndrome
|
(Orphanet:1475)
|
|
Renal pseudohypoaldosteronism type 1
|
(Orphanet:171871)
|
|
Retinitis pigmentosa 10
|
(OMIM:180105)
|
|
Richards-Rundle syndrome
|
(Orphanet:1399)
|
|
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp
|
(Orphanet:163727)
|
|
SCHAAF-YANG SYNDROME
|
(OMIM:615547)
|
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 3
|
(OMIM:608217)
|
|
SLC35A1-CDG
|
(Orphanet:238459)
|
|
SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE
|
(OMIM:271200)
|
|
SRD5A3-CDG
|
(Orphanet:324737)
|
|
Saldino-Mainzer syndrome
|
(Orphanet:140969)
|
|
Severe combined immunodeficiency due to CARD11 deficiency
|
(Orphanet:357237)
|
|
Severe combined immunodeficiency due to CORO1A deficiency
|
(Orphanet:228003)
|
|
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
(Orphanet:35123)
|
|
Sialidosis type 2
|
(Orphanet:87876)
|
|
Spastic diplegia, infantile type
|
(Orphanet:1680)
|
|
Spectrin-associated autosomal recessive cerebellar ataxia
|
(Orphanet:352403)
|
|
Spinocerebellar ataxia type 5
|
(Orphanet:98766)
|
|
Synaptic congenital myasthenic syndromes
|
(Orphanet:98915)
|
|
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
|
(OMIM:615387)
|
|
TORSION DYSTONIA WITH ONSET IN INFANCY
|
(OMIM:602554)
|
|
Tay-Sachs disease
|
(Orphanet:845)
|
|
Temtamy syndrome
|
(Orphanet:1777)
|
|
Thrombocytopenia with congenital dyserythropoietic anemia
|
(Orphanet:67044)
|
|
Torg-Winchester syndrome
|
(Orphanet:3460)
|
|
UV-SENSITIVE SYNDROME 2
|
(OMIM:614621)
|
|
UV-SENSITIVE SYNDROME 3
|
(OMIM:614640)
|
|
UV-sensitive syndrome
|
(Orphanet:178338)
|
|
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
|
(OMIM:600081)
|
|
VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR
|
(OMIM:600785)
|
|
Vitamin B12-responsive methylmalonic acidemia
|
(Orphanet:28)
|
|
X-linked Charcot-Marie-Tooth disease type 2
|
(Orphanet:101076)
|
|
X-linked creatine transporter deficiency
|
(Orphanet:52503)
|
|
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
|
(Orphanet:363727)
|
|
X-linked intellectual deficit - cerebellar hypoplasia
|
(Orphanet:137831)
|
|
X-linked intellectual disability, Hedera type
|
(Orphanet:93952)
|
|
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
|
(Orphanet:85295)
|
|
X-linked non progressive cerebellar ataxia
|
(Orphanet:314978)
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X-linked spinocerebellar ataxia type 3
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(Orphanet:85297)
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