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- 2q37 monosomy
- 3-Hydroxyisobutyryl-CoA deacylase deficiency
- ACDC (medicine)
- Acrofrontofacionasal dysostosis
- Acromesomelic dysplasia
- Acyl-CoA oxidase deficiency
- Adenosine deaminase 2 deficiency
- AFF2
- Agenesis of the vena cava
- Age of onset
- Alternating hemiplegia of childhood
- Alternating hemiplegia
- Amaurosis congenita, cone-rod type, with congenital hypertrichosis
- Aniridia renal agenesis psychomotor retardation
- Aprosencephaly cerebellar dysgenesis
- Arginine:glycine amidinotransferase deficiency
- Aromatic L-amino acid decarboxylase deficiency
- Arthrogryposis multiplex with deafness, inguinal hernias, and early death
- Atelosteogenesis type I
- Autophagic vacuolar myopathy
- Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- Autosomal dominant partial epilepsy with auditory features
- Autosomal dominant porencephaly type I
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive bestrophinopathy
- Bachmann-Bupp syndrome
- Benign hereditary chorea
- Bifid nose
- Bilateral frontoparietal polymicrogyria
- Biotin-thiamine-responsive basal ganglia disease
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Blue-cone monochromacy
- Brachial amelia, cleft lip, and holoprosencephaly
- Branched-chain keto acid dehydrogenase kinase deficiency
- Brody myopathy
- CACNA1C-related disorders
- CDKL5 deficiency disorder
- Cerebellar abiotrophy
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral creatine deficiency
- Cerebroretinal microangiopathy with calcifications and cysts
- CHAI disease
- CHDI Foundation
- Chondrodysplasia, Grebe type
- Choroideremia
- Chronic enteropathy associated with SLCO2A1 gene
- Ciliopathy
- Claire Wineland
- Coeliac disease
- Common variable immunodeficiency
- Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Congenital amegakaryocytic thrombocytopenia
- Congenital fibrosis of the extraocular muscles
- Craniometaphyseal dysplasia
- Creatine transporter defect
- Degenerative suspensory ligament desmitis
- Dermatoosteolysis, Kirghizian type
- Desmin-related myofibrillar myopathy
- Distal hereditary motor neuropathy type V
- Distal spinal muscular atrophy type 2
- Distichiasis, congenital heart defects and mixed peripheral vascular anomalies
- DOCK8 deficiency
- Dunnigan familial partial lipodystrophy
- Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
- Dysosteosclerosis
- Ectrodactyly with tibia aplasia/hypoplasia
- EUROCAT (medicine)
- Familial dwarfism and painful muscle spasms
- Familial multiple intestinal atresia
- Familial opposable triphalangeal thumbs duplication
- Familial osteodysplasia, Anderson type
- FATCO
- Fragile X-associated primary ovarian insufficiency
- Gait abnormality
- GATAD2B-associated neurodevelopmental disorder
- Genetic disorder
- Genetics of GnRH deficiency conditions
- Global Genes
- Glutaminase deficiency
- Glycogen storage disease type IX
- Gollop-Wolfgang complex
- GOSR2-related progressive myoclonus ataxia
- Haploinsufficiency of A20
- Hemoglobin O
- Hereditary diffuse leukoencephalopathy with spheroids
- Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
- Hereditary haemochromatosis
- HFE H63D gene mutation
- Huntington's disease
- Hyperglycerolemia
- Hypodysfibrinogenemia
- Hypohidrotic ectodermal dysplasia
- Hypoplasminogenemia
- Ichthyosis-intellectual disability-dwarfism-renal impairment
- Immunodeficiency 26
- Inborn errors of steroid metabolism
- Indian Genetic Disease Database
- Infantile cerebellar retinal degeneration
- Infantile cortical hyperostosis
- Inherited thrombotic thrombocytopenic purpura
- Intellectual disability-spasticity-ectrodactyly syndrome
- Iris hypoplasia with glaucoma
- Isolated hyperCKemia
- Juvenile nephronophthisis
- KCNQ2 developmental and epileptic encephalopathy
- Keratosis pilaris
- Laminopathy
- Late onset congenital adrenal hyperplasia
- Lethal dwarfism in rabbits
- List of genetic disorders
- List of OMIM disorder codes
- LPS-responsive beige-like anchor protein deficiency
- LRBA deficiency
- Lymphatic malformation 6 syndrome
- Mendelian susceptibility to mycobacterial disease
- Methylenetetrahydrofolate dehydrogenase 1 deficiency
- Microcephalic primordial dwarfism, Montreal type
- Microcephaly lymphoedema chorioretinal dysplasia
- Microcornea, glaucoma, and absent frontal sinuses
- Microspherophakia
- Mitochondrial complex II deficiency
- Multisystem proteinopathy
- Myostatin-related muscle hypertrophy
- Neuroacanthocytosis
- Neurocristopathy
- NGLY1 deficiency
- Norrie disease
- North Carolina macular dystrophy
- Oculopharyngodistal myopathy
- Ornithine transcarbamylase deficiency
- Osteopathia striata with cranial sclerosis
- Pantothenate kinase-associated neurodegeneration
- Paroxysmal nonkinesigenic dyskinesia
- PASLI disease
- PGM3 deficiency
- PMM2 deficiency
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- Primordial dwarfism
- Rare variant (genetics)
- RAS-associated autoimmune leukoproliferative disorder
- Reparagen
- Retinal cone dystrophy 3B
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
- Ring chromosome 18
- RNA-dominant disease
- Sclerosteosis
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Severe achondroplasia with developmental delay and acanthosis nigricans
- Shaker (gene)
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- SLC35A1-CDG
- Small supernumerary marker chromosome
- Sorsby's fundus dystrophy
- Spastin
- Spinal muscular atrophies
- Sponastrime dysplasia
- Spondylocamptodactyly
- Spondylometaphyseal dysplasia, East-African type
- STAT3 GOF
- St. Helena familial genu valgum
- STING-associated vasculopathy with onset in infancy
- Swedish mutation
- SYNGAP1-related intellectual disability
- SYT1-associated neurodevelopmental disorder
- Tetrasomy X
- Torsion dystonia
- TRPM3-related neurodevelopmental disorder
- Ulnar dysplasia
- Variant of uncertain significance
- Waardenburg Syndrome Type 1
- Warfarin resistance
- WNT4 deficiency
- XK aprosencephaly
- X-linked recessive hypoparathyroidism
- X-linked sideroblastic anemia and spinocerebellar ataxia
- XMEN disease
- Xp11.2 duplication
- ZC4H2-Associated Rare Disorders
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