Autosomal hereditary disorder
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Autosomal recessive hereditary disorder (disorder)
Autosomal recessive hereditary disorder
Recessive hereditary disorder (autosomal)
Hereditary disorder trait (autosomal)
autosomaal recessieve hereditaire aandoening
autosomaal recessieve erfelijke aandoening
autosomaal recessieve genetische aandoening
recessieve aandoening
autosomaal recessieve erfelijke aandoening
Aandoeningen waarbij beide ouders drager zijn van een erfelijke ziekte; het kind heeft 25% kans op de aandoening.
Id85995004
StatusPrimitive
ICD-10 complex map reference set
TargetQ99.9
RuleTRUE
AdviceALWAYS Q99.9
CorrelationSNOMED CT source code to target map code correlation not specified
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2-aminoadipic 2-oxoadipic aciduria
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency
3-M syndrome
3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 41
3-Methylglutaconic aciduria type 41
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 9
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
3-phosphoglycerate dehydrogenase deficiency infantile form
3-phosphoglycerate dehydrogenase deficiency juvenile form
46,XX disorder of sex development with skeletal anomalies syndrome
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
4H leukodystrophy3
5,10-Methylenetetrahydrofolate reductase deficiency
5-amino-4-imidazole carboxamide ribosiduria
5-Oxoprolinase deficiency
7p22.1 microduplication syndrome
Abetalipoproteinemia1
Absent thumb with short stature and immunodeficiency syndrome
Absent tibia, polydactyly, arachnoid cyst syndrome
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome
Achalasia microcephaly syndrome
Achromatopsia2
Acid phosphatase deficiency
Ackerman syndrome
Acro-oto-ocular syndrome
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrocardiofacial syndrome
Acrocephalopolydactyly
Acrocephalopolysyndactyly type II
Acrocephalopolysyndactyly type IV
Acrocraniofacial dysostosis
Acroerythrokeratoderma
Acrofacial dysostosis Kennedy Teebi type
Acrofacial dysostosis Kennedy Teebi type
Acrofacial dysostosis Rodriguez type
Acrofacial dysostosis Rodriguez type
Acrofrontofacionasal dysostosis
Acrofrontofacionasal dysostosis
Acrofrontofacionasal dysostosis type 2
Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Maroteaux type
Acrorenal mandibular syndrome
Action myoclonus renal failure syndrome
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein
Acute infantile liver failure with multisystemic involvement syndrome
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome
Acute neuronopathic Gaucher's disease
Acyl-CoA dehydrogenase 9 deficiency
Acyl-CoA oxidase deficiency
Adducted thumbs and arthrogryposis syndrome Christian type
Adenylosuccinate lyase deficiency
Adenylosuccinate lyase deficiency
Adenylosuccinate synthetase-like 1-related distal myopathy
Adult polyglucosan body disease
Adult-onset autosomal recessive cerebellar ataxia
Adult-onset autosomal recessive sideroblastic anemia
Adult-onset autosomal recessive sideroblastic anemia
Adult-onset dystonia parkinsonism
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
Aicardi Goutieres syndrome type 2
Aicardi Goutieres syndrome type 3
Aicardi Goutieres syndrome type 4
Aicardi Goutieres syndrome type 5
Albinotic fundus
ALG1 congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation
ALG3 congenital disorder of glycosylation
ALG8 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
Alopecia, contracture, dwarfism, intellectual disability syndrome
Alopecia, epilepsy, intellectual disability syndrome Moynahan type
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections
Alopecia, progressive neurological defect, endocrinopathy syndrome
Alpha-1-antitrypsin deficiency
Alpha-methylacyl-CoA racemase deficiency disorder
Alpha-N-acetylgalactosaminidase deficiency3
Alport syndrome autosomal recessive
Alstrom syndrome
Alstrom syndrome
Amaurosis hypertrichosis syndrome
Amelogenesis imperfecta - recessive - rough
Amelogenesis imperfecta and gingival hyperplasia syndrome
Amelogenesis imperfecta, pigmented hypomaturation type
Aminomethyltransferase deficiency
Amish lethal microcephaly
Amish nemaline myopathy
Amyotonia congenita
Andermann syndrome
Aniridia, renal agenesis, psychomotor retardation syndrome
ANK3-related intellectual disability, sleep disturbance syndrome
Anonychia with microcephaly syndrome
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome
Anophthalmia plus syndrome
Anterior maxillary protrusion, strabismus, intellectual disability syndrome
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
Aplasia cutis congenita with intestinal lymphangiectasia syndrome
Aplasia cutis with myopia syndrome
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Argininosuccinate lyase deficiency
Arterial tortuosity syndrome
Arthrogryposis and ectodermal dysplasia syndrome
Aspartylglucosaminuria
Ataxia with vitamin E deficiency
Ataxia-telangiectasia syndrome
Ateliotic dwarfism without insulinopenia
Atelosteogenesis type 2
Athabaskan brainstem dysgenesis syndrome
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
Atrophoderma vermiculatum
Attenuated Chédiak-Higashi syndrome
Atypical dentin dysplasia due to SMOC2 deficiency
Atypical pantothenate kinase associated neurodegeneration
Auditory neuropathy, optic atrophy syndrome
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Autism spectrum disorder, epilepsy, arthrogryposis syndrome
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome
Autoimmune lymphoproliferative syndrome with recurrent viral infection
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal recessive amelia
Autosomal recessive amyotrophic lateral sclerosis type 1
Autosomal recessive asexual dwarfism
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive bestrophinopathy
Autosomal recessive bilateral optic atrophy
Autosomal recessive brachyolmia
Autosomal recessive central core disease
Autosomal recessive cerebellar ataxia Beauce type
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome
Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive cerebral atrophy
Autosomal recessive Charcot-Marie-Tooth disease type 210
Autosomal recessive chorioretinopathy and microcephaly syndrome
Autosomal recessive chronic granulomatous disease
Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation
Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
Autosomal recessive congenital methemoglobinemia2
Autosomal recessive distal hereditary motor neuropathy4
Autosomal recessive distal osteolysis syndrome
Autosomal recessive dysgenesis of anterior segment of eye
Autosomal recessive dyskeratosis congenita
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive epidermolysis bullosa simplex8
Autosomal recessive facio-digito-genital syndrome
Autosomal recessive familial isolated hypoparathyroidism
Autosomal recessive familial isolated hypoparathyroidism
Autosomal recessive familial Parkinson disease
Autosomal recessive familial wooly hair Autosomal recessive familial woolly hair3
Autosomal recessive frontotemporal pachygyria
Autosomal recessive hereditary motor neuron disease5
Autosomal recessive hereditary spastic paraplegia53
Autosomal recessive hyperimmunoglobulin M syndrome2
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Autosomal recessive hypophosphatemic bone disease1
Autosomal recessive hypophosphatemic bone disease1
Autosomal recessive ichthyosis21
Autosomal recessive idiopathic familial dystonia3
Autosomal recessive infantile hypercalcemia
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Autosomal recessive isolated optic atrophy
Autosomal recessive isolated optic atrophy
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive lymphoproliferative disease
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency
Autosomal recessive muscular dystrophy not predominantly limb girdle1
Autosomal recessive muscular dystrophy with limb girdle distribution29
Autosomal recessive muscular dystrophy with limb girdle distribution29
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive nail dysplasia
Autosomal recessive ocular albinism
Autosomal recessive omodysplasia
Autosomal recessive optic atrophy type 6
Autosomal recessive optic atrophy type 7
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
Autosomal recessive popliteal pterygium syndrome
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Autosomal recessive primary microcephaly
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive pseudoxanthoma elasticum
Autosomal recessive retinitis pigmentosa13
Autosomal recessive Robinow syndrome
Autosomal recessive SCID (severe combined immunodeficiency disease)23
Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Autosomal recessive sick sinus syndrome
Autosomal recessive sideroblastic anemia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia with leukoencephalopathy
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome
Autosomal recessive spondylometaphyseal dysplasia Megarbane type
Axial spondylometaphyseal dysplasia
Baller-Gerold syndrome
Bamforth Lazarus syndrome
Bardet-Biedl syndrome
Bartter syndrome4
Basel Vanagaite Smirin Yosef syndrome
Beemer Ertbruggen syndrome
Benign ethnic neutropenia
Benign intrahepatic cholestasis type 1
Benign Samaritan congenital myopathy
Beta-aminoisobutyric aciduria
Beta-aminoisobutyric aciduria
Beta-D-mannosidosis
Beta-mercaptolactate cysteine disulfiduria
Bietti's crystalline retinopathy
Bilateral frontoparietal polymicrogyria
Bilateral microtia with deafness and cleft palate syndrome
Biotin-thiamine-responsive basal ganglia disease
Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency
Blepharophimosis, intellectual disability syndrome, Verloes type
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome
Blomstrand dysplasia
BNAR syndrome
Bone dysplasia lethal Holmgren type
Bosley Salih Alorainy syndrome
Bothnia retinal dystrophy
Boucher Neuhäuser syndrome
Bowen-Conradi syndrome
Brachydactyly syndrome type B1
Brachydactyly, short stature, retinitis pigmentosa syndrome
Brachyolmia - Maroteaux type
Braddock syndrome
Bradyopsia
Brain calcification Rajab type
Brain dopamine-serotonin vesicular transport disease
Brain dopamine-serotonin vesicular transport disease
Branchial dysplasia, intellectual disability, inguinal hernia syndrome
Brittle cornea syndrome
Brody myopathy
Brody myopathy
Brown-Vialetto-Van Laere syndrome
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
CACP syndrome
CAMOS syndrome
Campomelia Cumming type
Camptodactyly syndrome Guadalajara type 1
Camptodactyly syndrome Guadalajara type 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
Carbamoyl-phosphate synthetase 1 deficiency
Carbohydrate deficient glycoprotein syndrome type 1m
Carbohydrate deficient glycoprotein syndrome type 1o
Carbohydrate deficient glycoprotein syndrome type 2a
Carbohydrate deficient glycoprotein syndrome type 2d
Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Cardiomyopathy with cataract and hip spine disease syndrome
Cataract, congenital heart disease, neural tube defect syndrome
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome
Catel Manzke syndrome
CCDC115 congenital disorder of glycosylation
CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome
Cenani Lenz syndrome
Cerebellar ataxia and ectodermal dysplasia
Cerebellar ataxia Cayman type
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia with oculomotor apraxia type 4
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral folate transport deficiency
Cerebral ventriculomegaly, cystic kidney disease
Cerebro-facio-thoracic dysplasia
Cerebrofacioarticular syndrome
Cerebroretinal microangiopathy with calcifications and cysts
Cervical hypertrichosis and peripheral neuropathy syndrome
Charcot-Marie-Tooth disease type 412
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood hypophosphatasia
Childhood myocerebrohepatopathy spectrum
Childhood myocerebrohepatopathy spectrum
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Childhood-onset basal ganglia degeneration syndrome
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome
Childhood-onset spasticity with hyperglycinemia
Chitty Hall Baraitser syndrome
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome
Cholestanol storage disease
Cholestanol storage disease
Cholestasis-edema syndrome, Norwegian type
Chondrodysplasia punctata Toriello type
Chondrodysplasia with disorder of sex development syndrome
Chondrodysplasia with joint dislocations gPAPP type
Chorea acanthocytosis syndrome
Chronic atrial and intestinal dysrhythmia
Chronic enteropathy associated with SLCO2A1 gene
Chudley McCullough syndrome
Chuvash erythrocytosis
Chylomicron retention disease
CIDEC-related familial partial lipodystrophy
Citrin deficiency1
Citrullinemia type I
Classic juvenile neuronal ceroid lipofuscinosis
Classical pantothenate kinase associated neurodegeneration
CLCN2-related leukoencephalopathy
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome
Cleft palate with stapes fixation and oligodontia syndrome
Cloverleaf skull with multiple congenital anomalies syndrome
CNTNAP2-related developmental and epileptic encephalopathy
Cobblestone lissencephaly without muscular or ocular involvement
CODAS syndrome
Coenzyme A synthase protein associated neurodegeneration
Coenzyme Q10 deficiency2
COG1 congenital disorder of glycosylation
COG2-related congenital disorder of glycosylation
COG4 congenital disorder of glycosylation
COG5 congenital disorder of glycosylation
COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation
COG7 congenital disorder of glycosylation
COG8 congenital disorder of glycosylation
Cohen syndrome
Cold-induced sweating syndrome1
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
Combined deficiency of factor V and factor VIII
Combined immunodeficiency due to CARMIL2 deficiency
Combined immunodeficiency due to CD70 deficiency
Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to GINS1 deficiency
Combined immunodeficiency due to interleukin 21 receptor deficiency
Combined immunodeficiency due to ITK deficiency
Combined immunodeficiency due to LRBA deficiency
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to OX40 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to TFRC deficiency
Combined immunodeficiency with faciooculoskeletal anomalies syndrome
Combined immunodeficiency, enteropathy spectrum
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 28
Combined oxidative phosphorylation defect type 29
Combined oxidative phosphorylation defect type 30
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 5
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation deficiency type 20
Complement component 3 deficiency
Complex lethal osteochondrodysplasia
Conductive deafness, ptosis, skeletal anomalies syndrome
Cone dystrophy with supernormal rod response
Congenital adrenal hyperplasia20
Congenital alpha-2-antiplasmin deficiency
Congenital amegakaryocytic thrombocytopenia
Congenital analbuminemia
Congenital analbuminemia
Congenital autosomal recessive small-platelet thrombocytopenia
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 3
Congenital bowing of long bone2
Congenital cataract with ataxia and deafness syndrome
Congenital cataract with deafness and hypogonadism syndrome
Congenital cataract with hypertrichosis and intellectual disability syndrome
Congenital cataract, hearing loss, severe developmental delay syndrome
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
Congenital cataracts, facial dysmorphism and neuropathy
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
Congenital cerebellar ataxia due to RNU12 mutation
Congenital chronic diarrhea with protein-losing enteropathy
Congenital deafness with labyrinthine aplasia, microtia and microdontia
Congenital deficiency of alpha-fetoprotein
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type 1i
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1x
Congenital disorder of glycosylation type Ia
Congenital disorder of glycosylation, type ID
Congenital disorder of glycosylation, type IE
Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type II
Congenital fiber-type disproportion myopathy due to ZAK mutation
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
Congenital hereditary endothelial dystrophy type 2
Congenital hereditary facial paralysis with variable hearing loss syndrome
Congenital hypoplasia of ulna and intellectual disability syndrome
Congenital intrauterine infection-like syndrome
Congenital isolated adrenocorticotropic hormone deficiency
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
Congenital lactase deficiency
Congenital lactase deficiency
Congenital leptin deficiency
Congenital lethal erythroderma
Congenital lethal myopathy Compton North type
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
Congenital muscular dystrophy Paradas type
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy type 1B
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
Congenital muscular dystrophy type 1D large gene mutation
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
Congenital myopathy with myasthenic-like onset
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Congenital nephrotic syndrome3
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
Congenital neuronal ceroid lipofuscinosis
Congenital neutropenia, myelofibrosis, nephromegaly syndrome
Congenital pancreatic enterokinase deficiency
Congenital plasminogen activator inhibitor deficiency type 1
Congenital pontocerebellar hypoplasia type 1
Congenital pontocerebellar hypoplasia type 10
Congenital pontocerebellar hypoplasia type 2
Congenital pontocerebellar hypoplasia type 3
Congenital pontocerebellar hypoplasia type 4
Congenital pontocerebellar hypoplasia type 5
Congenital pontocerebellar hypoplasia type 6
Congenital pontocerebellar hypoplasia type 7
Congenital pontocerebellar hypoplasia type 8
Congenital pontocerebellar hypoplasia type 9
Congenital secretory diarrhea, chloride type
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
Congenital transferrin deficiency1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Cono-spondylar dysplasia
Constitutional mismatch repair deficiency syndrome
Cooper Jabs syndrome
Corneal cerebellar syndrome
Cortical blindness, intellectual disability, polydactyly syndrome
Cortical dysplasia with focal epilepsy syndrome
Craniodiaphyseal dysplasia
Craniofacial dysplasia osteopenia syndrome
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
Craniofacial dyssynostosis syndrome
Craniofacial ulnar renal syndrome
Craniolenticulosutural dysplasia
Craniometadiaphyseal dysplasia wormian bone type
Craniomicromelic syndrome
Cranioosteoarthropathy
Craniosynostosis and dental anomalies syndrome
Craniosynostosis and intracranial calcification syndrome
Craniosynostosis fibular aplasia syndrome
Craniosynostosis, anal anomaly, porokeratosis syndrome
Crigler-Najjar syndrome, type I
Crome syndrome
Cryptophthalmos syndrome
Curry-Hall syndrome
Cutaneous photosensitivity and lethal colitis syndrome
Cutis laxa, autosomal recessive5
Cutis laxa, autosomal recessive5
Cystathionine beta-synthase deficiency
Cystic fibrosis17
Cystic leukoencephalopathy without megalencephaly
Cystinosis4
Cystinuria, type 12
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Dandy-Walker malformation with postaxial polydactyly syndrome
Deaf blind hypopigmentation syndrome Yemenite type
Deafness and myopia syndrome
Deafness and oligodontia syndrome
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
Deafness, small bowel diverticulosis, neuropathy syndrome
Deafness, vitiligo, achalasia syndrome
Defect of purinergic receptor p2y G protein-coupled 12
Deficiency of alpha-ketoglutarate dehydrogenase
Deficiency of aminoacylase 1
Deficiency of aminoacylase 1
Deficiency of AMP pyrophorylase3
Deficiency of AMP pyrophorylase3
Deficiency of dimethylglycine dehydrogenase
Deficiency of dimethylglycine dehydrogenase
Deficiency of galactose mutarotase
Deficiency of glucosyltransferase 1
Deficiency of glucosyltransferase 1
Deficiency of histidine ammonia-lyase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of interleukin 36 receptor antagonist
Deficiency of leukotriene C4 synthase
Deficiency of leukotriene C4 synthase
Deficiency of methylmalonyl-CoA mutase2
Deficiency of phosphomannomutase 2
Deficiency of phosphomannomutase 2
Deficiency of proline dipeptidase
Delta-4-3-oxosteroid-5-beta-reductase deficiency
Dense deposit disease2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome
Dermatoleukodystrophy
Dermatoosteolysis Kirghizian type
Desbuquois syndrome
Desmosterolosis
Desmosterolosis
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Developmental delay with autism spectrum disorder and gait instability
Diabetes mellitus AND insipidus with optic atrophy AND deafness
Diaphanospondylodysostosis
Diaphragmatic defect, limb deficiency, skull defect syndrome
Diaphragmatic defect, limb deficiency, skull defect syndrome
Diastrophic dysplasia
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Dicarboxylic aminoaciduria syndrome
Diencephalic mesencephalic junction dysplasia
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
Diffuse mesangial sclerosis with ocular abnormalities
Digital extensor muscle aplasia with polyneuropathy
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome
Distal anoctaminopathy
Distal arthrogryposis type 5D
Distal limb deficiency with micrognathia syndrome
Distal muscular dystrophy, Miyoshi type
Distal myopathy with anterior tibial onset
DK phocomelia syndrome
DOCK2 deficiency
Donnai-Barrow syndrome
DOORS syndrome
Dopamine transporter deficiency syndrome
Double heterozygous familial hypercholesterolemia
Duane anomaly, myopathy, scoliosis syndrome
Duane anomaly, myopathy, scoliosis syndrome
Dubin-Johnson syndrome
Duplication of eyebrow and syndactyly syndrome
Dyggve-Melchior-Clausen syndrome
Dysmorphism, short stature, deafness, disorder of sex development syndrome
Dyssegmental dysplasia Silverman Handmaker type
Dystonia 16
Ear, patella, short stature syndrome
Early onset myopathy with fatal cardiomyopathy
Early-onset calcifying leukoencephalopathy, skeletal dysplasia
Early-onset epilepsy, intellectual disability, brain anomalies syndrome
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
Early-onset Lafora body disease
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome
Ectodermal dysplasia and sensorineural deafness syndrome
Ectodermal dysplasia syndactyly syndrome
Ectodermal dysplasia with blindness syndrome
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome
Ectopia lentis, chorioretinal dystrophy, myopia syndrome
Ectrodactyly polydactyly syndrome
Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome kyphoscoliotic type2
Ehlers-Danlos syndrome musculocontractural type
Ehlers-Danlos syndrome progeroid type
Ehlers-Danlos syndrome spondylocheirodysplastic type
Ehlers-Danlos syndrome, procollagen proteinase deficient
Eiken syndrome
Enamel-renal syndrome
Encephalopathy due to prosaposin deficiency
Encephalopathy due to sulfite oxidase deficiency
Encephalopathy, intracerebral calcification, retinal degeneration syndrome
Endocrine-cerebro-osteodysplasia syndrome
Endosteal hyperostoses with cerebellar hypoplasia
Eosinophil peroxidase deficiency
Epidermodysplasia verruciformis
Epilepsy telangiectasia syndrome
Epilepsy, microcephaly, skeletal dysplasia syndrome
Epileptic encephalopathy with global cerebral demyelination
Epiphyseal dysplasia, microcephalus, nystagmus syndrome
Erythropoietic uroporphyria associated with myeloid malignancy
Essential benign fructosuria
Essential benign fructosuria
Essential pentosuria
Ethanolaminosis
Ethylmalonic encephalopathy
Eye defects, arachnodactyly, cardiopathy syndrome
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
Faciocardiorenal syndrome
FADD-related immunodeficiency
Fallot complex with intellectual disability and growth delay syndrome
Familial acantholysis
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Familial angiolipomatosis
Familial benign flecked retina
Familial C3B inhibitor deficiency syndrome
Familial chylomicronemia syndrome2
Familial congenital nasolacrimal duct obstruction
Familial erythrocytosis due to diphosphoglycerate mutase deficiency
Familial glucocorticoid deficiency
Familial hemophagocytic lymphohistiocytosis4
Familial hypercholanemia
Familial hypertryptophanemia
Familial hypertryptophanemia
Familial hypoaldosteronism2
Familial hypokalemic alkalosis, Gullner type
Familial hypokalemic alkalosis, Gullner type
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement
Familial infantile myoclonic epilepsy
Familial isolated trichomegaly
Familial median cleft of upper and lower lip
Familial mesial temporal lobe epilepsy with febrile seizures
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Familial pulmonary capillary hemangiomatosis
Familial renal iminoglycinuria
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
FASTKD2-related infantile mitochondrial encephalomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Fatal post-viral neurodegenerative disorder
Fatty acid hydroxylase associated neurodegeneration
Fatty acid oxidation defect8
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
Fetal encasement syndrome
Fever-associated acute infantile liver failure syndrome
Fibular aplasia and complex brachydactyly
Filippi syndrome
Fine Lubinsky syndrome
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome
Focal facial dermal dysplasia type IV
Fountain syndrome
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
Francois syndrome
Frank-Ter Haar syndrome
Frontonasal dysplasia with alopecia and genital anomaly syndrome
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
Frontorhiny
Fructose-biphosphatase deficiency
Fryns syndrome
Fucosidosis3
Fuhrmann syndrome
Galactosylceramide beta-galactosidase deficiency2
Galactosylceramide lipidosis
Galloway Mowat syndrome
Gamma-glutamyl transpeptidase deficiency
GAPO syndrome
Gaucher disease with ophthalmoplegia and cardiovascular calcification
GCGR-related hyperglucagonemia
Gelatinous droplike corneal dystrophy
Gemignani syndrome
Generalized congenital lipodystrophy with myopathy
Genitopalatocardiac syndrome
German syndrome
Geroderma osteodysplastica
Ghosal hematodiaphyseal dysplasia
Giacci familial neurogenic acroosteolysis
Giant axonal neuropathy
Gingival fibromatosis with facial dysmorphism syndrome
Gitelman syndrome
Glucocorticoid deficiency with achalasia
Glutamate formiminotransferase deficiency
Glutamate-cysteine ligase deficiency
Glutaric aciduria, type 25
Glutathione synthase deficiency with 5-oxoprolinuria
Glycine dehydrogenase (decarboxylating) deficiency
Glycogen storage disease due to acid maltase deficiency2
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease, type I2
Glycogen storage disease, type VI
GM1 gangliosidosis3
GM3 synthase deficiency
GNB5-related intellectual disability, cardiac arrhythmia syndrome
Goldberg Shprintzen megacolon syndrome
Goldblatt Wallis syndrome
Goldmann-Favre syndrome
Gollop syndrome
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Gorlin-Chaudhry-Moss syndrome
GRACILE syndrome
Grebe syndrome
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay, intellectual disability, hepatopathy syndrome
Growth retardation, intellectual developmental disorder and hepatopathy syndrome
Growth retardation, mild developmental delay, chronic hepatitis syndrome
Grubben, De Cock, Borghgraef syndrome
Haim Munk syndrome
Hair defect with photosensitivity and intellectual disability syndrome
Hall Riggs syndrome
Hallux varus, preaxial polysyndactyly syndrome
Heart defect and limb shortening syndrome
HELIX syndrome
Heme oxygenase-1 deficiency
Hemochromatosis type 1
Hemochromatosis type 3
Hemochromatosis type 3
Hemoglobin Bart's hydrops syndrome
Hemoglobin C beta thalassemia
Hemoglobin E/beta thalassemia disease
Hemolytic anemia due to adenylate kinase deficiency
Hennekam Beemer syndrome
Hennekam syndrome
Hepatic glycogen synthase deficiency
Hepatic lipase deficiency
Hepatic lipase deficiency
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary acrodermatitis enteropathica
Hereditary acrodermatitis enteropathica
Hereditary adrenal unresponsiveness to corticotropin
Hereditary arterial and articular multiple calcification syndrome
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary congenital prekallikrein deficiency
Hereditary dysautonomia with motor neuropathy
Hereditary factor X deficiency disease
Hereditary factor XI deficiency disease3
Hereditary factor XII deficiency disease
Hereditary fructosuria
Hereditary fructosuria
Hereditary hypotrichosis with recurrent skin vesicles syndrome
Hereditary motor and sensory neuropathy with acrodystrophy
Hereditary palmoplantar keratoderma Gamborg Nielsen type
Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome
Hereditary sensory and autonomic neuropathy type 8
Hereditary sensory and autonomic neuropathy with deafness and global delay
Hereditary sensory autonomic neuropathy type IIA
Hereditary sensory autonomic neuropathy type IIB
Hereditary xanthinuria type 1
Hidrotic ectodermal dysplasia Halal type
Hirschsprung disease with deafness and polydactyly syndrome
Hirschsprung disease with nail hypoplasia and dysmorphism
Histiocytosis-lymphadenopathy plus syndrome
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
HNSHA due to diphosphoglycerate mutase deficiency
HNSHA due to glucose phosphate isomerase deficiency
HNSHA due to glutathione reductase deficiency
HNSHA due to glutathione synthetase deficiency
HNSHA due to pyrimidine-5'-nucleotidase deficiency
Holoprosencephaly and postaxial polydactyly syndrome
Holzgreve syndrome
Homocystinuria without methylmalonic aciduria1
Homocystinuria without methylmalonic aciduria1
Homogentisate 1,2-dioxygenase deficiency
Homogentisate 1,2-dioxygenase deficiency
Horizontal gaze palsy with progressive scoliosis
Huntington disease-like 3
Hydrocephalus, tall stature, joint laxity syndrome
Hydrolethalus syndrome
Hyperammonemia, type III
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Hypergonadotropic hypogonadism with cataract syndrome
Hypergonadotropic hypogonadism with cataract syndrome
Hyperimmunoglobulin E syndrome
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Hypermanganesemia with dystonia2
Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase
Hyperphenylalaninemia due to DNAJC12 deficiency
Hyperphosphatasemia with intellectual disability
Hyperphosphatasemia with intellectual disability
Hyperprolinemia type 2
Hyperprolinemia type 2
Hypertelorism with microtia and facial clefting syndrome
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hypervalinemia
Hypochromic microcytic anemia with iron overload
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
Hypomagnesemia with secondary hypocalcemia
Hypomagnesemia with secondary hypocalcemia
Hypomandibular faciocranial dysostosis
Hypomyelination and congenital cataract
Hypomyelination neuropathy arthrogryposis syndrome
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome
Hypotonia, speech impairment, severe cognitive delay syndrome
Hypotrichosis and intellectual disability syndrome Lopes type
Hypotrichosis with juvenile macular degeneration syndrome
I-cell disease1
IL21-related infantile inflammatory bowel disease
Illum syndrome
Immotile cilia syndrome5
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome
Immunodeficiency due to CD25 deficiency
Immunodeficiency with factor I anomaly
Inclusion body myopathy 2
Inclusion body myopathy 2
Infantile cerebellar and retinal degeneration
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile choroidocerebral calcification syndrome
Infantile glycine encephalopathy1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile hypophosphatasia
Infantile inflammatory bowel disease with neurological involvement
Infantile malignant osteopetrosis
Infantile onset spinocerebellar ataxia
Infantile osteopetrosis with neuroaxonal dysplasia syndrome
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
Infantile systemic hyalinosis
Infantile-onset autosomal recessive non progressive cerebellar ataxia
Infantile-onset generalized dyskinesia with orofacial involvement
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Intellectual disability Buenos Aires type
Intellectual disability with cataract and kyphosis syndrome
Intellectual disability with strabismus syndrome
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
Intellectual disability, epilepsy, bulbous nose syndrome
Intellectual disability, epilepsy, extrapyramidal syndrome
Intellectual disability, facial dysmorphism, hand anomalies syndrome
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome
Intellectual disability, myopathy, short stature, endocrine defect syndrome
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
Interleukin-1 receptor-associated kinase 4 deficiency
Interleukin-1 receptor-associated kinase 4 deficiency
Interstitial lung disease due to ABCA3 deficiency
Intestinal enteropeptidase deficiency
Intestinal epithelial dysplasia
Intestinal epithelial dysplasia
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome
Iodotyrosine deiodination defect
Iron-refractory iron deficiency anemia
Isolated ATP synthase deficiency
Isolated follicle stimulating hormone deficiency
Isolated generalized anhidrosis with normal sweat glands
Isolated hyperchlorhidrosis
Isolated hyperchlorhidrosis
Isolated neonatal sclerosing cholangitis
Isolated right ventricular hypoplasia
Isolated xanthine oxidase deficiency
Isolated xanthine oxidase deficiency
Isomerism of right atrial appendage
Isovaleryl-CoA dehydrogenase deficiency
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Jarcho-Levin syndrome
Jawad syndrome
Jervell and Lange-Nielsen syndrome
Jeune thoracic dystrophy1
Joubert syndrome6
Junctional epidermolysis bullosa6
Juvenile amyotrophic lateral sclerosis2
Juvenile hemochromatosis2
Juvenile hyaline fibromatosis
Juvenile primary lateral sclerosis
Kallman syndrome with heart disease
Kandori fleck retina syndrome
Kapur Toriello syndrome
Karyomegalic interstitial nephritis
Keutel syndrome
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
Kostmann syndrome
Kufor Rakeb syndrome
Kuskokwim syndrome
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
LAMB2-related infantile-onset nephrotic syndrome
Laron syndrome with immunodeficiency
Laron-type isolated somatotropin defect2
Larsen-like syndrome B3GAT3 type
Lathosterolosis
Lathosterolosis
Laurence-Moon syndrome
Leigh syndrome with nephrotic syndrome
Lelis syndrome
Leprechaunism syndrome
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Lethal brain and heart developmental defects syndrome
Lethal congenital contracture syndrome type 1
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
Lethal congenital contracture syndrome type 5
Lethal faciocardiomelic dysplasia
Lethal Kniest-like syndrome
Lethal Larsen-like syndrome
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
Lethal multiple pterygium syndrome
Lethal neonatal spasticity, epileptic encephalopathy syndrome
Lethal occipital encephalocele, skeletal dysplasia syndrome
Lethal omphalocele with cleft palate syndrome
Lethal polymalformative syndrome Boissel type
Lethal recessive chondrodysplasia
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy, dystonia, motor neuropathy syndrome
Leukoencephalopathy, palmoplantar keratoderma syndrome
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome
Leydig cell agenesis3
Lichtenstein syndrome
LIPE-related familial partial lipodystrophy
Lipid proteinosis
Lipid proteinosis
Lipodystrophy, intellectual disability, deafness syndrome
Lipodystrophy, intellectual disability, deafness syndrome
Lipoic acid synthetase deficiency
Lipoprotein glomerulopathy
Lipoyl transferase 1 deficiency
Lissencephaly syndrome Norman Roberts type
Lissencephaly type 3 familial fetal akinesia sequence syndrome
Lissencephaly type 3 metacarpal bone dysplasia syndrome
Lung agenesis with heart defect and thumb anomaly syndrome
Lymphedema, atrial septal defect, facial changes syndrome
Lymphedema, posterior choanal atresia syndrome
Lymphoproliferative syndrome with ITK deficiency
Lysosomal acid lipase deficiency2
MacDermot Winter syndrome
Macrocephaly and developmental delay syndrome
Macrosomia, microphthalmia, cleft palate syndrome
Macular coloboma, cleft palate, hallux valgus syndrome
Macular corneal dystrophy5
Majeed syndrome
Malignant hyperthermia with arthrogryposis and torticollis syndrome
Malignant hyperthermia with arthrogryposis and torticollis syndrome
Malonic aciduria
Mandibuloacral dysostosis2
Manitoba oculotrichoanal syndrome
Mannosephosphate isomerase congenital disorder of glycosylation
Mannosidosis2
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation
Maple syrup urine disease7
MARCH syndrome
Marfanoid habitus with autosomal recessive intellectual disability syndrome
Marinesco-Sjögren syndrome
Maroteaux-Lamy syndrome3
McKusick Kaufman syndrome
Megaconial congenital muscular dystrophy
Megalencephalic leukoencephalopathy with subcortical cysts
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Megalocornea, spherophakia, secondary glaucoma syndrome
Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency
MEPAN syndrome
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome
Metachromatic leukodystrophy, adult type
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
Methylcrotonyl-CoA carboxylase deficiency
Methylene THF reductase deficiency AND homocystinuria
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
Methylmalonic aciduria due to transcobalamin receptor defect
Mevalonic aciduria
Mevalonic aciduria
Microbrachycephaly, ptosis, cleft lip syndrome
Microcephalic cortical malformations, short stature due to RTTN deficiency
Microcephalic osteodysplastic dysplasia Saul Wilson type
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Dauber type
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism, insulin resistance syndrome
Microcephalus cardiomyopathy syndrome
Microcephalus with brachydactyly and kyphoscoliosis syndrome
Microcephalus with cardiac defect and lung malsegmentation syndrome
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
Microcephalus, complex motor and sensory axonal neuropathy syndrome
Microcephalus, glomerulonephritis, marfanoid habitus syndrome
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
Microcephaly with cervical spine fusion anomaly
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
Microcephaly, thin corpus callosum, intellectual disability syndrome
Microcephaly-capillary malformation syndrome
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome
Microlissencephaly micromelia syndrome
Microphthalmia with brain atrophy syndrome
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form1
Mitochondrial DNA depletion syndrome encephalomyopathic form5
Mitochondrial DNA depletion syndrome hepatocerebrorenal form
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial membrane protein associated neurodegeneration
Mitochondrial myopathy with sideroblastic anemia syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial phosphate carrier deficiency
Mitochondrial pyruvate carrier deficiency
Moderate steroid 21-hydroxylase deficiency
Mohr syndrome
MOMO syndrome
MORM syndrome
Morquio syndrome2
Moyamoya disease with early onset achalasia
Mucolipidosis type IV
Mucopolysaccharidosis, MPS-I3
Mucopolysaccharidosis, MPS-VII
Mucopolysaccharidosis-like plus disease
Multicentric osteolysis nodulosis arthropathy spectrum
Multiple carboxylase deficiency2
Multiple congenital anomalies, hypotonia, seizures syndrome
Multiple epiphyseal dysplasia Al-Gazali type
Multiple epiphyseal dysplasia type 4
Multiple mitochondrial dysfunctions syndrome4
Multiple sulfatase deficiency
Muscle AMP deaminase deficiency
Muscle AMP deaminase deficiency
Muscle and heart glycogen synthase deficiency
Muscle eye brain disease with bilateral multicystic leukodystrophy
Muscle phosphoglycerate mutase deficiency
Muscle-eye-brain disease, congenital muscular dystrophy
Myoclonic epilepsy myopathy sensory ataxia
Myopathy with deficiency of iron-sulfur cluster assembly enzyme
Myopathy with deficiency of iron-sulfur cluster assembly enzyme
Myosclerosis
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
Nakajo-Nishimura syndrome
Nathalie syndrome
Native American myopathy
Navajo neurohepatopathy
NEK9-related lethal skeletal dysplasia
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome
Neonatal epileptic encephalopathy due to glutaminase deficiency
Neonatal inflammatory skin and bowel disease
Neonatal pseudo-hydrocephalic progeroid syndrome
Nephronophthisis9
Nephropathy, deafness, hyperparathyroidism syndrome
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
Nestor Guillermo progeria syndrome
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome
Neuroectodermal melanolysosomal disease
Neurofaciodigitorenal syndrome
Neurogenic arthrogryposis multiplex congenita1
Neuronal ceroid lipofuscinosis 8
Neutral lipid storage disease with myopathy
NGLY1-congenital disorder of deglycosylation
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy
North American Indian childhood cirrhosis
NPHP3-related Meckel-like syndrome
Obesity due to CEP19 deficiency
Obesity due to leptin receptor gene deficiency
Obesity due to prohormone convertase I deficiency
Obesity due to SIM1 deficiency
Occipital pachygyria and polymicrogyria
Ocular motor apraxia Cogan type
Oculoauricular syndrome Schorderet type
Oculocerebral hypopigmentation syndrome of Preus type
Oculocerebrofacial syndrome Kaufman type
Oculocutaneous albinism10
Oculogastrointestinal muscular dystrophy
Oculogastrointestinal muscular dystrophy
Oculoosteocutaneous syndrome
Oculopalatocerebral syndrome
Odontohypophosphatasia
Odontotrichomelic syndrome
Oguchi's disease
Oligohydramnios sequence1
Oliver McFarlane syndrome
Oliver syndrome
Ophthalmo-acromelic syndrome
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
Oro-facial digital syndrome type 14
Oro-facial digital syndrome type 5
Oro-facial digital syndrome type 9
Orofacial-digital syndrome III
Orofacial-digital syndrome IV
Orotic aciduria2
Orotic aciduria2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
Osteopenia, intellectual disability, sparse hair syndrome
Osteopetrosis hypogammaglobulinemia syndrome
Osteoporosis and oculocutaneous hypopigmentation syndrome
Oto-onycho-peroneal syndrome
Otospondylomegaepiphyseal dysplasia
OTULIN-related autoinflammatory syndrome
Pachydermoperiostosis syndrome
Pachygyria, intellectual disability, epilepsy syndrome
Pacman dysplasia
Palmoplantar keratoderma Nagashima type
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
Pancreatic triacylglycerol lipase deficiency
Pancytopenia with developmental delay syndrome
Papillon-Lefèvre syndrome
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf
Parana hard skin syndrome
Parkinsonian pyramidal syndrome
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Partial pancreatic agenesis
PCNA-related progressive neurodegenerative photosensitivity syndrome
Pelizaeus Merzbacher like disease4
Pelviscapular dysplasia
Pendred's syndrome
Perinatal lethal Gaucher disease
Perlman syndrome
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome
Peroxisome biogenesis disorder16
Persistent Müllerian duct syndrome
Peters plus syndrome
PGM1-related congenital disorder of glycosylation
PHAVER syndrome
Phenylketonuria2
Phosphatidylcholine-sterol acyltransferase deficiency
Phosphoglucomutase 3-related congenital disorder of glycosylation
Pierson syndrome
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome
Pili torti onychodysplasia syndrome
Pili torti-deafness syndrome
Pilodental dysplasia, refractive errors syndrome
PLAA-associated neurodevelopmental disorder
Poikiloderma with neutropenia
Polycystic kidney disease, infantile type
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polyglandular autoimmune syndrome, type 1
Polyglucosan body myopathy type 1
Polyglucosan body myopathy type 2
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome
Polymicrogyria with optic nerve hypoplasia
Polysyndactyly and cardiac malformation syndrome
Porencephaly, microcephaly, bilateral congenital cataract syndrome
Porphobilinogen synthase deficiency
Postaxial polydactyly, dental, vertebral anomalies syndrome
Preaxial polydactyly, colobomata, intellectual disability syndrome
Predisposition to invasive fungal disease due to CARD9 deficiency
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Primary CD59 deficiency
Primary dystonia DYT27 type
Primary hypergonadotropic hypogonadism and partial alopecia syndrome
Primary hyperoxaluria3
Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency with multifaceted aberrant lymphoid immunity
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Primary intraosseous venous malformation
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome
Progeroid features, hepatocellular carcinoma predisposition syndrome
Progressive cavitating leukoencephalopathy
Progressive cerebellar ataxia with hypogonadism
Progressive cerebello-cerebral atrophy
Progressive deafness with stapes fixation
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive external ophthalmoplegia, myopathy, emaciation syndrome
Progressive intrahepatic cholestasis3
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 6
Progressive myoclonic epilepsy type 8
Progressive myoclonic epilepsy type 9
Progressive myoclonic epilepsy with dystonia
Progressive myoclonus epilepsy with ataxia
Progressive polyneuropathy with bilateral striatal necrosis
Progressive retinal dystrophy due to retinol transport defect
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome
Proline dehydrogenase deficiency
Propionic acidemia4
Proximal myopathy with extrapyramidal signs
PRUNE1-related neurological syndrome
Pseudodiastrophic dysplasia
Pseudohypoaldosteronism, type 1, recessive form
Pseudohypoaldosteronism, type 1, recessive form
Pseudoprogeria syndrome
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome
Puerto Rican infant hypotonia syndrome
Puerto Rican infant hypotonia syndrome
Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency
Pyknoachondrogenesis
Pyknodysostosis
Pyle metaphyseal dysplasia
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88
Pyridoxal 5-phosphate dependent epilepsy
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
QRSL1-related combined oxidative phosphorylation defect
RAB18 deficiency2
Raine dysplasia
Rambaud Gallian syndrome
RAPADILINO syndrome
RARS-related autosomal recessive hypomyelinating leukodystrophy
Reardon Hall Slaney syndrome
Recessive aplasia cutis congenita of limbs
Recessive dystrophic epidermolysis bullosa6
Recessive mitochondrial ataxia syndrome
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome
Recurrent Neisseria infection due to factor D deficiency
Refetoff syndrome
Renal hepatic pancreatic dysplasia
Renal tubular acidosis with progressive nerve deafness
Renal tubulopathy with encephalopathy and liver failure syndrome
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Retinal degeneration, nanophthalmos, glaucoma syndrome
Retinal detachment and occipital encephalocele
Retinitis punctata albescens
Retinohepatoendocrinologic syndrome
Rhizomelic syndrome Urbach type
Richards-Rundle syndrome
Richieri Costa-da Silva syndrome
RIDDLE syndrome
RNA polymerase III-related leukodystrophy
Roberts-SC phocomelia syndrome
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome
Rolland-Debuqois syndrome
Rothmund Thomson syndrome type 1
Rothmund Thomson syndrome type 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
Saito Kuba Tsuruta syndrome
Saldino-Mainzer dysplasia
Sanfilippo syndrome4
Sanjad Sakati syndrome
Sarcosine dehydrogenase deficiency
Schimke immuno-osseous dysplasia
Schinzel phocomelia syndrome
Schwartz-Jampel syndrome
Seckel syndrome
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome
Seizures and intellectual disability due to hydroxylysinuria
Seizures, scoliosis, macrocephaly syndrome
Selective malabsorption of cyanocobalamin
Sensorineural deafness and male infertility
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
SERKAL syndrome
Severe autosomal recessive macrothrombocytopenia
Severe childhood autosomal recessive muscular dystrophy
Severe dermatitis, multiple allergies, metabolic wasting syndrome
Severe early childhood onset retinal dystrophy
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome
Severe myopia, generalized joint laxity, short stature syndrome
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Severe neurodegenerative syndrome with lipodystrophy
Severe oculo-renal-cerebellar syndrome
Severe steroid 21-hydroxylase deficiency
Short rib polydactyly syndrome4
Short stature due to primary acid labile subunit deficiency
Short stature with delayed bone age due to thyroid hormone metabolism deficiency
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
Short stature, brachydactyly, obesity, global developmental delay syndrome
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
Sialidosis2
Siegler Brewer Carey syndrome
Sinoatrial node dysfunction and deafness
Sitosterolemia with xanthomatosis
Skeletal dysplasia with epilepsy and short stature syndrome
SLC39A8 congenital disorder of glycosylation
Smith McCort dysplasia
Sonoda syndrome
Spectrin-associated autosomal recessive cerebellar ataxia
Sphingomyelin/cholesterol lipidosis4
Spinal muscular atrophy with progressive myoclonic epilepsy
Spinocerebellar ataxia dysmorphism syndrome
Spinocerebellar ataxia with axonal neuropathy type 1
Split hand, split foot malformation with sensorineural hearing loss syndrome
Split-foot malformation, mesoaxial polydactyly syndrome
Spondylo-megaepiphyseal-metaphyseal dysplasia
Spondylo-ocular syndrome
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome
Spondyloenchondrodysplasia with immune dysregulation
Spondyloenchondromatosis1
Spondyloepimetaphyseal dysplasia aggrecan type
Spondyloepimetaphyseal dysplasia anauxetic type
Spondyloepimetaphyseal dysplasia Genevieve type
Spondyloepimetaphyseal dysplasia Irapa type
Spondyloepimetaphyseal dysplasia matrilin-3 type
Spondyloepimetaphyseal dysplasia PAPSS2 type
Spondyloepimetaphyseal dysplasia Shohat type
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome
Spondyloepiphyseal dysplasia tarda Kohn type
Spondyloepiphyseal dysplasia with congenital joint dislocations1
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome
Spondylometaphyseal dysplasia A4 type
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
Steel syndrome
Sterile multifocal osteomyelitis with periostitis and pustulosis
Steroid dehydrogenase deficiency and dental anomaly syndrome
Stickler syndrome type 4
Stimmler syndrome
Stromme syndrome
Subaortic stenosis and short stature syndrome
Succinate-semialdehyde dehydrogenase deficiency
Sucrase-isomaltase deficiency
Sucrase-isomaltase deficiency
Sudden infant death with dysgenesis of testes syndrome
Sugarman brachydactyly
Sulfite oxidase deficiency syndrome
Summitt syndrome
Susceptibility to infection due to TYK2 deficiency
Susceptibility to localized juvenile periodontitis
Susceptibility to respiratory infection associated with CD8alpha chain mutation
Susceptibility to viral and mycobacterial infection
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome
Syndrome of apparent mineralocorticoid excess
Syndromic congenital sodium diarrhea
Syndromic multisystem autoimmune disease due to ITCH deficiency
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell receptor alpha-beta-positive T-cell deficiency
Tall stature, intellectual disability, renal anomalies syndrome
Talo-patello-scaphoid osteolysis syndrome
Tangier disease
Taurodontia with absent teeth and sparse hair syndrome
Tay-Sachs disease3
TBCK-related intellectual disability syndrome
Teebi Shaltout syndrome
Tel Hashomer camptodactyly syndrome
TELO2-related intellectual disability, neurodevelopmental disorder
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tetra-amelia syndrome
Tetrahydrobiopterin synthesis defect4
Thakker Donnai syndrome
Thiamine-responsive encephalopathy
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Thomas syndrome
Thoracic dysplasia and hydrocephalus syndrome
Thoracomelic dysplasia
Thymic, renal, anal, lung dysplasia syndrome
Thyrocerebrorenal syndrome
TMEM199 congenital disorder of glycosylation
TMEM70 related mitochondrial encephalo-cardio-myopathy
TMEM70 related mitochondrial encephalo-cardio-myopathy
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
Toriello Carey syndrome
Total intestinal aganglionosis
Transcobalamin II deficiency
Transcobalamin II deficiency
Transient infantile hypertriglyceridemia and hepatosteatosis
Trichohepatoenteric syndrome
Trichoodontoonychial dysplasia
Trichothiodystrophy5
Tumoral calcinosis2
Tungland Bellman syndrome
Type 3 lissencephaly
Tyrosinemia type 2
Tyrosinemia type III
Tyrosinemia type III
Ulbright Hodes syndrome
Ultraviolet sensitive syndrome
Upper limb defect with eye and ear abnormalities syndrome
Urban Rogers Meyer syndrome
Urocanate hydratase deficiency
VACTERL syndrome with hydrocephalus
Van den Ende-Gupta syndrome
Vanishing white matter disease1
Vasculitis due to adenosine deaminase 2 deficiency
Verloes Bourguignon syndrome
Vici syndrome
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome
von Willebrand disease type 2N
von Willebrand disease type 3
VPS11-related autosomal recessive hypomyelinating leukodystrophy
Walker-Warburg congenital muscular dystrophy
Warsaw breakage syndrome
Weaver Williams syndrome
Werdnig-Hoffmann disease
Werner syndrome
White forelock with malformations syndrome
Wilson's disease2
Wilson's disease2
Woodhouse Sakati syndrome
Wrinkly skin syndrome
Xeroderma pigmentosum11
XK aprosencephaly syndrome
XY type gonadal dysgenesis with associated anomalies syndrome
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
Zechi Ceide syndrome
Zellweger-like syndrome without peroxisomal anomaly
Zellweger-like syndrome without peroxisomal anomaly
Zlotogora Ogur syndrome