List of Rare Diseases
A
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AA amyloidosis
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AAA syndrome
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AADC deficiency
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AAE
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AAE 2
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AAE II
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Aagenaes syndrome
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AAOCA
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AAOR
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AApoAI amyloidosis
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AApoAII amyloidosis
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AApoAIV amyloidosis
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Aarskog-like syndrome
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Aarskog-Scott syndrome
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Aarskog syndrome
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Aase-Smith II syndrome
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Aase-Smith I syndrome
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Aase-Smith syndrome
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Aase syndrome
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AAV
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Abacavir toxicity
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ABCB4-related cholelithiasis
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Abdominal muscle deficiency syndrome
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ABE
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Aberfeld syndrome
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ABeta2M amyloidosis
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ABeta2Mwt amyloidosis
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ABetaA21G amyloidosis
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ABetaA21G-related amyloidosis
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ABeta amyloidosis, Arctic type
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ABeta amyloidosis, Dutch type
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ABeta amyloidosis, Flemish type
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ABeta amyloidosis, Iowa type
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ABeta amyloidosis, Italian type
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ABeta amyloidosis, Piedmont type
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ABetaD23N amyloidosis
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ABetaE22G amyloidosis
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ABetaE22K amyloidosis
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ABetaE22Q amyloidosis
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ABetaL34V amyloidosis
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ABetaL34V-related amyloidosis
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Abetalipoproteinemia
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Ablepharon macrostomia syndrome
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Abnormal number of coronary ostia
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Abnormal origin of right or left pulmonary artery from the aorta
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Abnormal origin of the pulmonary artery
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ABPA
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ABri amyloidosis
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Abruzzo-Erickson syndrome
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ABSD
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Absence deformity of leg-cataract syndrome
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Absence of brachiocephalic vein
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Absence of dermatoglyphics-congenital milia syndrome
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Absence of fingerprints-congenital milia syndrome
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Absence of innominate vein
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Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
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Absence of the pulmonary artery
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Absence of the superior caval vein
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Absence of the superior vena cava
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Absence of the SVC
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Absent eyebrows and eyelashes-intellectual disability syndrome
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Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
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Absent pulmonary valve syndrome
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Absent radius-anogenital anomalies syndrome
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Absent thumb-short stature-immunodeficiency syndrome
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Absent tibia-polydactyly-arachnoid cyst syndrome
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Absent tibia-polydactyly syndrome
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ABSN
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ACAD9 deficiency
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ACADM deficiency
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ACADS deficiency
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Acalvaria
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Acanthamoeba keratitis
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Acanthokeratolytic verrucous nevus
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Acanthoma of the nail matrix
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Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
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ACAPA
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Acatalasemia
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ACC-abnormal genitalia syndrome
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Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
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Accessory breasts
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Accessory mitral valve tissue
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Accessory nostril
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Accessory pancreas
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Accessory tricuspid valve tissue
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ACD-intellectual disability syndrome
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ACDMPV
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ACE inhibitor-related acquired angioedema
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ACEI-related acquired angioedema
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Acephalic spermatozoa syndrome
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ACER3-related early childhood-onset progressive leukodystrophy
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Aceruloplasminemia
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Acetaminophen poisoning
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Acetazolamide-responsive congenital myotonia
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Acetazolamide-responsive myotonia
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ACFS
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Achalasia-addisonianism-alacrima syndrome
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Achalasia cardia
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Achalasia-microcephaly syndrome
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Acheiria
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Acheiropodia
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Acheiropody
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ACHM
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Achondrogenesis
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Achondrogenesis, Houston-Harris type
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Achondrogenesis, Langer-Saldino type
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Achondrogenesis, Parenti-Fraccaro type
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Achondrogenesis type 1A
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Achondrogenesis type 1B
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Achondrogenesis type 2
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Achondroplasia
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Achondroplasia-SCID syndrome
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Achondroplasia-severe combined immunodeficiency syndrome
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Achondroplasia-Swiss type agammaglobulinemia syndrome
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Achromatopsia
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Acid beta-glucosidase deficiency
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Acid ceramidase deficiency
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Acinar cell carcinoma of pancreas
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Acitretin/etretinate embryopathy
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Ackerman dermatitis syndrome
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Ackerman fused molar roots syndrome
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Ackerman syndrome
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ACNES
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Aconitase deficiency
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Acoustic neurilemoma
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Acoustic neurinoma
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Acoustic neuroma
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ACPS2
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ACPS4
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Acquired adult-onset immunodeficiency
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Acquired alimentary behavior disorder of infancy
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Acquired amyloid peripheral neuropathy
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Acquired aneurysmal subarachnoid hemorrhage
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Acquired angioedema
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Acquired angioedema type 1
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Acquired angioedema type 2
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Acquired angioedema with C1Inh deficiency
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Acquired angioedema with normal C1INH
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Acquired angioedema with normal C1 inhibitor
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Acquired angioneurotic edema
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Acquired angioneurotic edema type 1
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Acquired angioneurotic edema type 2
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Acquired angioneurotic edema with C1Inh deficiency
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Acquired angioneurotic edema with C1 inhibitor deficiency
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Acquired anterior horn cell disease
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Acquired ataxia
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Acquired bradykinine-induced angioedema
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Acquired C1 inhibitor deficiency
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Acquired CDI
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Acquired central diabetes insipidus
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Acquired chronic primary adrenal insufficiency
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Acquired Creutzfeldt-Jakob disease
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Acquired cutis laxa
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Acquired cystic disease-associated renal cell carcinoma
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Acquired dermis elastic tissue disorder
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Acquired dermis elastic tissue disorder with decreased elastic tissue
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Acquired dermis elastic tissue disorder with increased elastic tissue
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Acquired embryofetopathy
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Acquired epidermolysis bullosa
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Acquired epileptic aphasia
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Acquired Fanconi syndrome secondary to monoclonal gammopathy
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Acquired generalized lipodystrophy
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Acquired Gronblad-Strandberg-Touraine syndrome
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Acquired HbH disease
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Acquired hemoglobin H disease
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Acquired hemophagocytic lymphohistiocytosis
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Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
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Acquired hemophilia
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Acquired hypertrichosis lanuginosa
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Acquired hypoprothrombinemia
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Acquired ichthyosis
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Acquired idiopathic sideroblastic anemia
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Acquired immunodeficiency
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Acquired kinky hair syndrome
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Acquired lipoatrophic diabetes
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Acquired lipodystrophy
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Acquired methemoglobinemia
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Acquired monoclonal Ig light chain-associated Fanconi syndrome
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Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
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Acquired motor neuron disease
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Acquired myasthenia
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Acquired neurogenic diabetes insipidus
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Acquired neuromuscular junction disease
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Acquired neuromyotonia
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Acquired neutropenia
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Acquired non histamine-induced angioedema
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Acquired partial lipodystrophy
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Acquired peripheral movement disorder
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Acquired peripheral neuropathy
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Acquired pituitary hormone deficiency
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Acquired porencephaly
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Acquired premature ovarian failure
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Acquired primary erythrocytosis
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Acquired prothrombin deficiency
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Acquired pseudoxanthoma elasticum
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Acquired purpura fulminans
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Acquired PXE
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Acquired rippling muscle disease
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Acquired schizencephaly
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Acquired secondary erythrocytosis
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Acquired secondary polycythemia
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Acquired sensory ganglionopathy
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Acquired sensory neuronopathy
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Acquired skeletal muscle disease
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Acquired thrombotic thrombocytopenic purpura
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Acquired TTP
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Acquired von Willebrand disease
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Acquired von Willebrand syndrome
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Acral deciduous skin
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Acral dysostosis with facial and genital abnormalities
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Acral dystrophic epidermolysis bullosa
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Acral peeling skin syndrome
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Acral persistent papular mucinosis
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Acral PSS
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Acral self-healing collodion baby
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Acral SHCB
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Acrocallosal syndrome
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Acrocapitofemoral dysplasia
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Acrocardiofacial syndrome
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Acrocephalopolydactylous dysplasia
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Acrocephalopolydactyly
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Acrocephalopolysyndactyly type 2
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Acrocephalopolysyndactyly type 4
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Acrocephalosyndactylia
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Acrocephalosyndactyly
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Acrocephalosyndactyly type 1
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Acrocephalosyndactyly type 3
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Acrocephalosyndactyly type 5
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Acrocephaly
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Acrocraniofacial dysostosis
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Acrodentoosteodysplasia
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Acrodermatitis continua of Hallopeau
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Acrodermatitis enteropathica
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Acrodermatitis enteropathica, zinc deficiency type
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Acro-dermato-ungual-lacrimal-tooth syndrome
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Acrodysostosis
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Acrodysostosis with multiple hormone resistance
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Acrodysplasia
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Acrodysplasia scoliosis
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Acrofacial dysostosis
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Acrofacial dysostosis, Catania type
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Acrofacial dysostosis, Genee-Wiedmann type
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Acrofacial dysostosis, Kennedy-Teebi type
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Acrofacial dysostosis, Palagonia type
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Acrofacial dysostosis, RodrÃguez type
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Acrofacial dysostosis, Weyers type
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Acrofrontofacionasal dysostosis
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Acrofrontofacionasal dysostosis type 2
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Acrofrontofacionasal syndrome type 2
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Acrogeria
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Acrogeria, Gottron type
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Acrokeratoderma
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Acrokeratoelastoidosis of Costa
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Acrokeratosis of Bazex
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Acrokeratosis paraneoplastica
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Acrokeratosis paraneoplastica of Bazex
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Acrokeratosis verruciformis of Hopf
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Acromegaloid facial appearance syndrome
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Acromegaly
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Acromelanosis
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Acromelic dysplasia
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Acromelic frontonasal dysostosis
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Acromelic frontonasal dysplasia
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Acromesomelic dwarfism
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Acromesomelic dysplasia
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Acromesomelic dysplasia, Grebe type
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Acromesomelic dysplasia, Hunter-Thompson type
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Acromesomelic dysplasia, Maroteaux type
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Acrometageria
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Acromicric dysplasia
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Acroosteolysis dominant type
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Acroosteolysis-keloid-like lesions-premature aging syndrome
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Acroosteolysis with osteoporosis and changes in skull and mandible
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Acrootoocular syndrome
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Acropectoral syndrome
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Acropectorovertebral dysplasia
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Acropigmentation of Dohi
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Acrorenal defect-ectodermal dysplasia-diabetes syndrome
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Acro-renal-mandibular syndrome
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Acro-renal-ocular syndrome
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Acrorenal syndrome
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ACRP syndrome
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ACS
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ACS
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ACS1
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ACS3
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ACS5
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ACTH-dependent CS
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ACTH-dependent Cushing syndrome
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ACTH-independent Cushing syndrome
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ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
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Actinic lichen planus
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Actinic LP
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Actinic prurigo
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Actinic reticuloid
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Actin myopathy
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Actinomycosis
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Action myoclonus-renal failure syndrome
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Activated PI3K-delta syndrome
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Activation-induced cytidine deaminase deficiency
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Acute ackee fruit intoxication
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Acute adrenal failure
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Acute adrenal insufficiency
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Acute adrenocortical insufficiency
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Acute and disseminated Langerhans cell histiocytosis
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Acute and subacute inflammatory demyelinating polyneuropathy
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Acute and subacute inflammatory demyelinating polyradiculoneuropathy
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Acute annular outer retinopathy
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Acute basophilic leukemia
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Acute bilateral striatal necrosis
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Acute bilirubin encephalopathy
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Acute brachial plexus neuritis
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Acute disseminated encephalitis
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Acute disseminated encephalomyelitis
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Acute encephalitis with refractory repetitive partial seizures
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Acute encephalopathy with biphasic seizures and late reduced diffusion
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Acute encephalopathy with inflammation-mediated status epilepticus
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Acute endophthalmitis
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Acute erythroid leukemia
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Acute fatty liver of pregnancy
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Acute febrile neutrophilic dermatosis
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Acute generalized exanthematous pustulosis
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Acute graft versus host disease
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Acute hepatic failure
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Acute hepatic porphyria
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Acute idiopathic demyelinating polyneuropathy
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Acute infantile encephalopathy predominantly affecting the frontal lobes
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Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
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Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
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Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
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Acute infantile liver failure-multisystemic involvement syndrome
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Acute inflammatory demyelinating polyradiculoneuropathy
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Acute inflammatory polyneuropathy
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Acute intermittent porphyria
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Acute interstitial pneumonia
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Acute interstitial pneumonitis
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Acute intoxication by Blighia sapida
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Acute kernicterus
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Acute leukemia of ambiguous lineage
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Acute leukemia of indeterminate lineage
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Acute liver failure
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Acute lung injury
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Acute lymphoblastic leukemia
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Acute lymphoblastic leukemia/lymphoma
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Acute lymphocytic leukemia
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Acute macular neuroretinopathy
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Acute megakaryoblastic leukemia
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Acute megakaryoblastic leukemia in Down syndrome
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Acute megakaryoblastic leukemia without Down syndrome
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Acute megakaryocytic leukemia
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Acute monoblastic leukemia
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Acute monocytic leukemia
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Acute motor and sensory axonal neuropathy
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Acute motor axonal neuropathy
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Acute motor-sensory axonal GBS
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Acute motor-sensory axonal Guillain-Barré syndrome
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Acute multiple sclerosis, Marburg type
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Acute multiple sclerosis, Marburg variant
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Acute myeloblastic leukemia 3
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Acute myeloblastic leukemia M1
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Acute myeloblastic leukemia M2
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Acute myeloblastic leukemia with maturation
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Acute myeloblastic leukemia without maturation
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Acute myelodysplasia with myelofibrosis
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Acute myelofibrosis
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Acute myelogenous leukemia
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Acute myeloid leukaemia with myelodysplasia-related features
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Acute myeloid leukemia
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Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
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Acute myeloid leukemia and myelodysplastic syndromes related to radiation
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Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
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Acute myeloid leukemia M6
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Acute myeloid leukemia M7
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Acute myeloid leukemia, minimal differentiation, FAB M0
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Acute myeloid leukemia with 11q23 abnormalities
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Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
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Acute myeloid leukemia with CEBPA somatic mutations
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Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
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Acute myeloid leukemia with minimal differentiation
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Acute myeloid leukemia with multilineage dysplasia
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Acute myeloid leukemia with NPM1 somatic mutations
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Acute myeloid leukemia with recurrent genetic anomaly
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Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
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Acute myeloid leukemia with t(6;9)(p23;q34)
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Acute myeloid leukemia with t(8;16)(p11;p13) translocation
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Acute myeloid leukemia with t(8;21)(q22;q22) translocation
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Acute myeloid leukemia with t(9;11)(p22;q23)
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Acute myelomonocytic leukemia
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Acute myelosclerosis
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Acute necrotizing encephalopathy of childhood
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Acute neonatal citrullinemia type 1
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Acute neonatal citrullinemia type I
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Acute neuronopathic Gaucher disease
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Acute non-herpetic encephalitis with severe refractory status epilepticus
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Acute opioid poisoning
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Acute panautonomic GBS
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Acute panautonomic Guillain-Barré syndrome
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Acute panautonomic neuropathy
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Acute pandysautonomia
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Acute panmyelosis with myelofibrosis
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Acute peripheral arterial occlusion
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Acute poisoning by drugs with membrane-stabilizing effect
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Acute promyelocytic leukemia
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Acute pure motor GBS
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Acute pure motor Guillain-Barré syndrome
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Acute pure sensory GBS
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Acute pure sensory Guillain-Barré syndrome
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Acute pure sensory neuropathy
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Acute radiation sickness
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Acute radiation syndrome
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Acute respiratory coronavirus infection
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Acute rheumatic fever
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Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma
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Acute sensory ataxic GBS
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Acute sensory ataxic Guillain-Barré syndrome
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Acute sensory ataxic neuropathy
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Acute transverse myelitis
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Acute tricyclic antidepressant poisoning
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Acute tubulointerstitial nephritis and uveitis syndrome
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Acute undifferentiated leukemia
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Acute zonal occult outer retinopathy
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ACY1D
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ACY2 deficiency
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Acyl-CoA dehydrogenase 9 deficiency
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Acyl-CoA dehydrogenase deficiency
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ACys amyloidosis
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ACZ-responsive congenital myotonia
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ACZ-responsive myotonia
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Adactyly of hand, unilateral
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ADA deficiency
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Adair-Dighton syndrome
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Adamantinoma
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Adamantinoma of long bones
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Adams-Oliver syndrome
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ADan amyloidosis
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ADANE
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ADCA
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ADCA1
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ADCA2
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ADCA3
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ADCA4
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ADCA-DN syndrome
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ADCAI
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ADCAII
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ADCAIII
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ADCAIV
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ADCL
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ADCME
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AD-CNM
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Addison disease
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Addisonian crisis
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AD dRTA
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Adducted thumb-clubfoot syndrome
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Adducted thumbs-arthrogryposis syndrome, Christian type
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ADEAF
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ADEM
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Adenine phosphoribosyltransferase deficiency
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Adenocarcinoma of ovary
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Adenocarcinoma of the anal canal
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Adenocarcinoma of the cervix uteri
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Adenocarcinoma of the esophagus
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Adenocarcinoma of the gallbladder and EBT
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Adenocarcinoma of the gallbladder and extrahepatic biliary tract
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Adenocarcinoma of the liver and IBT
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Adenocarcinoma of the liver and intrahepatic biliary tract
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Adenocarcinoma of the paratestis
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Adenocarcinoma of the penis
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Adenocarcinoma of the small bowel
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Adenocarcinoma of the small instestine
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Adenocarcinoma of the vulva
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Adenohypophysitis
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Adenoid basal carcinoma of the cervix uteri
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Adenoid cystic carcinoma of the cervix uteri
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Adenoid cystic carcinoma of the corpus uteri
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Adenoma of pancreas
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Adenomucinosis
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Adenosarcoma of the cervix uteri
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Adenosarcoma of the corpus uteri
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Adenosine monophosphate deaminase deficiency
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Adenosylcobalamin deficiency
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Adenovirus infection in immunocompromised patients
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Adenylosuccinase deficiency
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Adenylosuccinate lyase deficiency
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Adenylosuccinate synthetase-like 1-related distal myopathy
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AD-HED
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Adhesive arachnoiditis
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AD-HIES
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ADHR
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AD hypocalcemia
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Adie syndrome
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Adiposalgia
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Adipose tissue rheumatism
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Adiposis dolorosa
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ADK hypermethioninemia
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ADLD
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ADLTE
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ADNFLE
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ADNIV
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ADNP-related syndromic intellectual disability-autism spectrum disorder
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ADNP syndrome
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ADOA
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Adolescent benign focal crisis
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Adolescent-onset epilepsy syndrome
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ADOS
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ADPCLD
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ADPEAF
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adPEO
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ADPKD
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AD pRTA
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Adrenal crisis
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Adrenal Cushing syndrome
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Adrenal insufficiency-achalasia-alacrima syndrome
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Adrenal/paraganglial tumor
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Adrenocortical carcinoma
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Adrenocortical carcinoma with pure aldosterone hypersecretion
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Adrenocortical crisis
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Adrenocorticotropic hormone-dependent Cushing syndrome
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Adrenocorticotropic hormone-independent Cushing syndrome
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Adrenocorticotropic hormone secretion syndrome
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Adrenogenital syndrome
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Adrenomyeloneuropathy
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Adrenomyodystrophy
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ADSD
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ADSL deficiency
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AD-SPAX
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AD-SPG9A
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AD-SPG9B
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ADSSL1-related distal myopathy
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ADTKD
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ADTKD-HNF1B
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ADTKD-MUC1
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ADTKD-REN
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ADTKD-UMOD
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Adult acute respiratory distress syndrome
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Adult ARDS
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Adult Bartter syndrome
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Adult basal ganglia disease
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Adult cardiac tumor
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Adult chronic idiopathic neutropenia
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Adult dermatomyositis
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Adult familial nephronophthisis-spastic quadriparesia syndrome
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Adult GM2 gangliosidosis 0 variant
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Adult HCC
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Adult heart tumor
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Adult hepatocellular carcinoma
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Adult hypophosphatasia
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Adult idiopathic neutropenia
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Adult intestinal botulism
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Adult intestinal colonization botulism
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Adult intestinal toxemia botulism
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Adult intestinal toxin-mediated botulism
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Adult Krabbe disease
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Adult NCL
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Adult neuronal ceroid lipofuscinosis
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Adult-onset acquired myasthenia
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Adult-onset Alpha-N-acetylgalactosaminidase deficiency
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Adult-onset autoimmune myasthenia gravis
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Adult-onset autosomal dominant demyelinating leukodystrophy
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Adult-onset autosomal dominant leukodystrophy
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Adult-onset autosomal recessive cerebellar ataxia
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Adult-onset autosomal recessive sideroblastic anemia
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Adult-onset cervical dystonia, DYT23 type
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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
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Adult-onset citrin deficiency
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Adult-onset citrullinemia type 1
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Adult-onset citrullinemia type 2
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Adult-onset citrullinemia type I
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Adult-onset citrullinemia type II
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Adult-onset CPEO with mitochondrial myopathy
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Adult-onset cystinosis
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Adult-onset distal myopathy due to VCP mutation
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Adult-onset dystonia-parkinsonism
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Adult-onset foveomacular dystrophy
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Adult-onset foveomacular dystrophy with choroidal neovascularization
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Adult-onset foveomacular vitelliform dystrophy
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Adult-onset GM1 gangliosidosis
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Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies
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Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
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Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
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Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
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Adult-onset myasthenia gravis
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Adult-onset nemaline myopathy
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Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
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Adult-onset overlap myositis
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Adult-onset PLS
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Adult-onset primary lateral sclerosis
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Adult-onset Still disease
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Adult-onset vitelliform macular dystrophy
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Adult phosphoethanolaminuria
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Adult polyglucosan body disease
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Adult progeria
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Adult pulmonary Langerhans cell histiocytosis
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Adult pure red cell aplasia
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Adult Rathburn disease
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Adult Refsum disease
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ADULT syndrome
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Adult T-cell leukemia/lymphoma
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ADVIRC
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Adynamia episodica hereditaria
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AEBP1-related EDS
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AEBP1-related Ehlers-Danlos syndrome
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AEC syndrome
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aEDS
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AEI
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AERRPS
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AESD
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AEXS
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AEZ
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AFAP
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AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
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AFib amyloidosis
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AFLP
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AFND
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AFP
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African iron overload
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African tick typhus
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African trypanosomiasis
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Agammaglobulinemia
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Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
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Agammaglobulinemia, non-Bruton type
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Aganglionic megacolon
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AGAT deficiency
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AGC1 deficiency
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AGel amyloidosis
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Agenesis and aplasia of uterine body
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Agenesis of corpus callosum with chorioretinal abnormality
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Agenesis of the superior caval vein
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Agenesis of the superior vena cava
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Agenesis of the SVC
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AGEP
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Aggrecan-related bone disorder
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Aggressive B-cell NHL
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Aggressive B-cell non-Hodgkin lymphoma
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Aggressive fibromatosis
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Aggressive NK-cell leukemia
-
Aggressive NK-cell lymphoma
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Aggressive primary cutaneous B-cell lymphoma
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Aggressive primary cutaneous T-cell lymphoma
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Aggressive systemic mastocytosis
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Aglossia-adactylia syndrome
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Agnathia-holoprosencephaly-situs inversus syndrome
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Agnogenic myeloid metaplasia
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Agramatic variant of PPA
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Agramatic variant of primary progressive aphasia
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AHA
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AH amyloidosis
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AHC
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AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
-
AHDS
-
Ahn-Lerman-Sagie syndrome
-
AHO-PHP syndrome Ia
-
AHO-PPHP syndrome
-
aHUS
-
aHUS with anti-factor H antibodies
-
aHUS with B factor anomaly
-
aHUS with C3 anomaly
-
aHUS with complement gene abnormality
-
aHUS with H factor anomaly
-
aHUS with I factor anomaly
-
aHUS with MCP/CD46 anomaly
-
aHUS with neutralizing autoantibodies against factor H
-
aHUS with thrombomodulin anomaly
-
Aicardi-Goutières syndrome
-
Aicardi syndrome
-
AICA-ribosiduria
-
AID deficiency
-
AIDP
-
AIDS wasting syndrome
-
AIED
-
AIEF
-
AIHA
-
AILT
-
AIP
-
AIP type 1
-
AIP type 2
-
AIS
-
AISA
-
AK2 deficiency
-
AKE
-
AKT2-related familial partial lipodystrophy
-
AKT2-related FPLD
-
AKV of Hopf
-
Alacrimia-choreoathetosis-liver dysfunction syndrome
-
ALAD porphyria
-
Alagille syndrome
-
Alagille syndrome due to 20p12 microdeletion
-
Alagille syndrome due to a JAG1 point mutation
-
Alagille syndrome due to a NOTCH2 point mutation
-
Alagille syndrome due to del(20)(p12)
-
Alagille syndrome due to monosomy 20p12
-
Alagille-Watson syndrome
-
Alagille-Watson syndrome due to a JAG1 point mutation
-
Alagille-Watson syndrome due to a NOTCH2 point mutation
-
Alagille-Watson syndrome due to monosomy 20p12
-
AL amyloidosis
-
Ã…land Islands eye disease
-
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
-
Alar cleft
-
Alar rim cleft
-
Al Awadi-Farag-Teebi syndrome
-
Al Awadi-Raas-Rothschild syndrome
-
Alazami syndrome
-
Albers-Schönberg osteopetrosis
-
Albinism-deafness syndrome
-
Albright hereditary osteodystrophy-like syndrome
-
Albright hereditary osteodystrophy-PHP syndrome Ia
-
Albright hereditary osteodystrophy-PPHP syndrome
-
Albright hereditary osteodystrophy type 3
-
ALCL
-
Alcock syndrome
-
Alcohol-related birth defects
-
Alcohol-related neurodevelopmental disorder
-
Alcohol-responsive dystonia
-
ALD
-
ALDD syndrome
-
ALDH18A1-related De Barsy syndrome
-
Aldred syndrome
-
ALECT2 amyloidosis
-
Aleukemic mast cell leukemia
-
Alexander disease
-
Alexander disease type I
-
Alexander disease type II
-
Alfi syndrome
-
ALG11-CDG
-
ALG12-CDG
-
ALG13-CDG
-
ALG1-CDG
-
ALG2-CDG
-
ALG3-CDG
-
ALG6-CDG
-
ALG8-CDG
-
ALG9-CDG
-
Al Gazali-Al Talabani syndrome
-
Al Gazali-Aziz-Salem syndrome
-
Al Gazali-Donnai-Muller syndrome
-
Al Gazali-Lytle syndrome
-
Al Gazali-Nair syndrome
-
Algodystrophy
-
ALK+ ALCL
-
ALK- ALCL
-
Alkaline ceramidase 3 deficiency
-
ALK+ anaplastic large cell lymphoma
-
ALK- anaplastic large cell lymphoma
-
Alkaptonuria
-
ALK+ large B-cell lymphoma
-
ALK+ LBCL
-
ALK-negative anaplastic large cell lymphoma
-
ALK-positive anaplastic large cell lymphoma
-
ALK-positive large B-cell lymphoma
-
ALL
-
Allan-Herndon-Dudley syndrome
-
Allergic aspergillosis
-
Allergic bronchopulmonary aspergillosis
-
Allgrove syndrome
-
Alloimmune neonatal renal disease
-
Allopurinol toxicity
-
Allosome anomaly
-
Allosome number anomaly
-
Allosome structural anomaly
-
Alobar holoprosencephaly
-
Alopecia
-
Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
-
Alopecia-anosmia-deafness-hypogonadism syndrome
-
Alopecia antibody deficiency
-
Alopecia-contractures-dwarfism-intellectual disability syndrome
-
Alopecia-deafness-hypogonadism syndrome
-
Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
-
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
-
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
-
Alopecia-intellectual disability syndrome
-
Alopecia-progressive neurological defect-endocrinopathy syndrome
-
Alopecia-sensorineural deafness-hypogonadism syndrome
-
Alopecia totalis
-
Alopecia universalis
-
Alpers-Huttenlocher syndrome
-
Alpers progressive sclerosing poliodystrophy
-
Alpers syndrome
-
Alpha-1,4-glucosidase acid deficiency
-
Alpha-1,4-glucosidase acid deficiency, infantile onset
-
Alpha-1,4-glucosidase acid deficiency, late-onset
-
Alpha-1-antitrypsin deficiency
-
Alpha-aminoadipic aciduria
-
Alpha-B crystallin-related late-onset distal myopathy
-
Alpha-B crystallin-related late-onset myopathy
-
Alpha-crystallinopathy
-
Alpha delta granule deficiency
-
Alpha dense granule deficiency
-
Alpha-dystroglycanopathy
-
Alpha-galactosidase A deficiency
-
Alpha granule disease
-
Alpha-HCD
-
Alpha-heavy chain disease
-
Alpha-ketoglutarate dehydrogenase deficiency
-
Alpha-L-fucosidase deficiency
-
Alpha-L-iduronidase deficiency
-
Alpha-mannosidosis
-
Alpha-mannosidosis, adult form
-
Alpha-mannosidosis, infantile form
-
Alpha methylacetoacetic aciduria
-
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
-
Alpha-methyl-acyl-CoA racemase deficiency
-
Alpha-N-acetylgalactosaminidase deficiency
-
Alpha-N-acetylgalactosaminidase deficiency type 1
-
Alpha-N-acetylgalactosaminidase deficiency type 2
-
Alpha-N-acetylgalactosaminidase deficiency type 3
-
Alpha-sarcoglycanopathy
-
Alpha storage pool deficiency
-
Alpha-thalassemia
-
Alpha-thalassemia and related diseases
-
Alpha-thalassemia hydrops fetalis
-
Alpha thalassemia-intellectual disability syndrome, deletion type
-
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
-
Alpha-thalassemia intermedia
-
Alpha-thalassemia major
-
Alpha-thalassemia-myelodysplastic syndrome
-
Alpha-thalassemia-related diseases
-
Alpha-thalassemia-X-linked intellectual disability syndrome
-
Alport deafness-nephropathy
-
Alport syndrome
-
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
-
ALPS
-
ALPS due to CTLA4 haploinsuffiency
-
ALPS with recurrent viral infections
-
ALS
-
ALS4
-
ALSG
-
ALSP
-
Alström syndrome
-
ALT
-
Alternating hemiplegia
-
Alternating hemiplegia of childhood
-
Alveolar capillary dysplasia with misalignment of pulmonary veins
-
Alveolar capillary dysplasia with misalignment of pulmonary vessels
-
Alveolar cleft lip and palate
-
Alveolar echinococcosis
-
Alveolar rhabdomyosarcoma
-
Alveolar soft part sarcoma
-
Alveolar soft tissue sarcoma
-
ALX1-related frontonasal dysplasia
-
ALX3-related frontonasal dysplasia
-
ALX4-related FNDAG
-
Alymphoid cystic thymic dysgenesis
-
ALys amyloidosis
-
AMACR deficiency
-
AMAN
-
Amaurosis congenita of Leber
-
Amaurosis-hypertrichosis syndrome
-
Ambras syndrome
-
AMC
-
Amelia
-
Amelia of lower limb
-
Amelia of upper limb
-
Ameloblastic carcinoma
-
Ameloblastoma
-
Amelocerebrohypohidrotic syndrome
-
Amelogenesis imperfecta
-
Amelogenesis imperfecta-nephrocalcinosis syndrome
-
Amelogenesis imperfecta type 1
-
Amelogenesis imperfecta type 2
-
Amelogenesis imperfecta type 3
-
Amelogenesis imperfecta type 4
-
Ameloonychohypohidrotic ectodermal dysplasia
-
Ameloonychohypohidrotic syndrome
-
American mountain fever
-
American trypanosomiasis
-
Amino acid or protein metabolism disease with epilepsy
-
Aminoaciduria, Hartnup type
-
Aminoacylase 2 deficiency
-
Aminoacylase deficiency
-
Aminopterin embryopathy syndrome
-
Aminopterin/methotrexate embryofetopathy
-
Aminopterin syndrome-like sine aminopterin
-
Amish infantile epilepsy syndrome
-
Amish lethal microcephaly
-
Amish nemaline myopathy
-
AMKL
-
AML
-
AML and myelodysplastic syndromes related to alkylating agent
-
AML and myelodysplastic syndromes related to radiation
-
AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
-
AML M0
-
AML M1
-
AML M2
-
AML M3
-
AML M4
-
AML M5
-
AML M6
-
AML M7
-
AML with 11q23 abnormalities
-
AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
-
AML with CEBPA somatic mutations
-
AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
-
AML with multilineage dysplasia
-
AML with myelodysplasia-related features
-
AML with NPM1 somatic mutations
-
AML with recurrent genetic anomaly
-
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
-
AML with t(6;9)(p23;q34)
-
AML with t(8;16)(p11;p13) translocation
-
AML with t(8;21)(q22;q22) translocation
-
AML with t(9;11)(p22;q23)
-
AMME complex
-
AMME syndrome
-
AMMoL
-
Amniotic band sequence
-
Amniotic band syndrome
-
AMNR
-
aMOA
-
Amoebiasis due to Entamoeba histolytica
-
Amoebiasis due to free-living amoebae
-
AMP deaminase deficiency
-
Ampola syndrome
-
Ampulla cardiomyopathy
-
Ampullary carcinoma
-
Ampulloma
-
AMRF
-
AMSAN
-
Amylo-1,6-glucosidase deficiency
-
Amyloid lichen
-
Amyloidosis
-
Amyloidosis cutis dyschromia
-
Amyloidosis cutis dyschromica
-
Amyloidosis, Ostertag type
-
Amylopectinosis
-
Amyoplasia congenita
-
Amyotrophic lateral sclerosis
-
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
-
Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome
-
Amyotrophic lateral sclerosis type 4
-
Amyotrophy-fat tissue anomaly syndrome
-
Anal fistula
-
Analphalipoproteinemia
-
Anaphylactoid purpura
-
Anaplastic astrocytoma
-
Anaplastic ependymoma
-
Anaplastic ganglioglioma
-
Anaplastic large cell lymphoma
-
Anaplastic/large cell medulloblastoma
-
Anaplastic oligoastrocytoma
-
Anaplastic oligodendroglioma
-
Anaplastic thyroid carcinoma
-
Anauxetic dysplasia
-
ANCA-associated vasculitis
-
ANCL
-
Ancylostomiasis
-
Andermann syndrome
-
Andersen disease
-
Andersen syndrome
-
Andersen-Tawil syndrome
-
Anderson disease
-
Anderson-Fabry disease
-
Androblastoma
-
Androgenetic/biparental mosaicism
-
Androgen insensitivity syndrome
-
Androgen resistance syndrome
-
ANEC
-
ANE syndrome
-
Aneurysmal bone cyst
-
Aneurysmal telangiectasia
-
Aneurysm of sinus of Valsalva
-
Aneurysm or dilatation of ascending aorta
-
Aneurysm-osteoarthritis syndrome
-
Angelman syndrome
-
Angelman syndrome due to a point mutation
-
Angelman syndrome due to imprinting defect in 15q11-q13
-
Angelman syndrome due to maternal 15q11q13 deletion
-
Angelman syndrome due to maternal monosomy 15q11q13
-
Angelman syndrome due to paternal uniparental disomy of chromosome 15
-
Angel-shaped phalango-epiphyseal dysplasia
-
Angiocentric cutaneous T-cell lymphoma of childhood
-
Angiocentric glioma
-
Angiocentric T-cell lymphoma
-
Angiodysgenetic necrotizing myelopathy
-
Angioendotheliomatosis proliferans systemisata
-
Angiofollicular ganglionic hyperplasia
-
Angiofollicular lymph hyperplasia
-
Angioimmunoblastic T-cell lymphoma
-
Angiokeratoma corporis diffusum
-
Angioma serpiginosum
-
Angioneurotic edema
-
Angioosteohypertrophic syndrome
-
Angioosteohypotrophic syndrome
-
Angiosarcoma
-
Angiostrongyliasis
-
Angiotropic large cell lymphoma
-
Angora hair nevus
-
ANGPT1-related HAE with normal C1 inhibitor
-
ANGPT1-related hereditary angioedema with normal C1Inh
-
Anguilluliasis
-
Anguillulosis
-
Anhidrotic ectodermal dysplasia
-
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
-
Anhidrotic ectodermal dysplasia with immunodeficiency
-
Aniridia-absent patella syndrome
-
Aniridia-cerebellar ataxia-intellectual disability syndrome
-
Aniridia-intellectual disability syndrome
-
Aniridia-ptosis-intellectual disability-familial obesity syndrome
-
Aniridia-renal agenesis-psychomotor retardation syndrome
-
Anisakiasis
-
ANK3-related intellectual disability-sleep disturbance syndrome
-
ANKCL
-
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
-
Ankyloblepharon filiforme adnatum-cleft palate syndrome
-
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
-
Ankylosing vertebral hyperostosis with tylosis
-
Ankylosis of teeth
-
Ankylostomiasis
-
Annular atrophic lichen planus
-
Annular atrophic LP
-
Annular epidermolytic ichthyosis
-
Annular lichen planus
-
Annular LP
-
Annular pancreas
-
Annuloaortic ectasia
-
ANOAC
-
Anodontia
-
Anomalous aortic origin of coronary artery
-
Anomalous aortic origin of the left coronary artery
-
Anomalous aortic origin of the right coronary artery
-
Anomalous origin of coronary artery from the pulmonary artery
-
Anomaly of chromosome 1
-
Anomaly of chromosome 10
-
Anomaly of chromosome 11
-
Anomaly of chromosome 12
-
Anomaly of chromosome 13
-
Anomaly of chromosome 14
-
Anomaly of chromosome 15
-
Anomaly of chromosome 16
-
Anomaly of chromosome 17
-
Anomaly of chromosome 18
-
Anomaly of chromosome 19
-
Anomaly of chromosome 2
-
Anomaly of chromosome 20
-
Anomaly of chromosome 21
-
Anomaly of chromosome 22
-
Anomaly of chromosome 3
-
Anomaly of chromosome 4
-
Anomaly of chromosome 5
-
Anomaly of chromosome 6
-
Anomaly of chromosome 7
-
Anomaly of chromosome 8
-
Anomaly of chromosome 9
-
Anomaly of puberty or/and menstrual cycle
-
Anomaly of puberty or/and menstrual cycle of genetic origin
-
Anomaly of the coronary ostia
-
Anomaly of the mitral subvalvular apparatus
-
Anomaly of the tricuspid subvalvular apparatus
-
Anonychia congenita totalis
-
Anonychia-microcephaly syndrome
-
Anonychia-onychodystrophy syndrome
-
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
-
Anonychia with flexural pigmentation
-
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
-
Anophthalmia/microphthalmia-esophageal atresia syndrome
-
Anophthalmia-microphthalmia syndrome
-
Anophthalmia plus syndrome
-
Anophthalmia-pulmonary hypoplasia syndrome
-
Anophthalmia-syndactyly syndrome
-
Anorectal malformation
-
ANOTHER syndrome
-
Anotia
-
Antecubital pterygium syndrome
-
Antenatal Bartter syndrome
-
Antenatal CMV infection
-
Antenatal cytomegalovirus infection
-
Antenatal EBV infection
-
Antenatal enterovirus infection
-
Antenatal Epstein-Barr virus infection
-
Antenatal herpes simplex virus infection
-
Antenatal multiminicore disease with arthrogryposis multiplex congenita
-
Antenatal varicella virus infection
-
Anterior basement membrane dystrophy
-
Anterior bowing of legs with dwarfism
-
Anterior corneal dystrophy
-
Anterior cutaneous nerve entrapment syndrome
-
Anterior encephalocele
-
Anterior horn cell disease
-
Anterior limiting membrane dystrophy type 1
-
Anterior limiting membrane dystrophy type 2
-
Anterior limiting membrane dystrophy type I
-
Anterior limiting membrane dystrophy type II
-
Anterior pituitary hypophysitis
-
Anterior segment developmental abnormality with extraocular manifestations
-
Anterior segment developmental anomaly
-
Anterior segment developmental anomaly of genetic origin
-
Anterior segment developmental anomaly without extraocular manifestation
-
Anterior segment dysgenesis
-
Anterior urethral valve
-
Anterior uveitis
-
Anthracycline extravasation
-
Anti-C1q vasculitis
-
Antidepressant or antipsychotic toxicity or dose selection
-
Anti-GBM syndrome
-
Anti-glomerular basement membrane disease
-
Anti-HLA hyperimmunization
-
Anti-HMG-CoA myopathy
-
Anti-IgLON5 disease
-
Anti-IgLON5 syndrome
-
Anti-Jo1 syndrome
-
Anti-K HDN
-
Anti-MAG neuropathy
-
Antineutrophil cytoplasmic antibody-associated vasculitis
-
Anti-neutrophil cytoplasmic antibody-associated vasculitis
-
Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis
-
Antinolo-Nieto-Borrego syndrome
-
Anti-p200 pemphigoid
-
Antiquitin deficiency
-
Anti-SRP myopathy
-
Antisynthetase syndrome
-
Antley-Bixler syndrome
-
AO1
-
AO2
-
AO3
-
AOA1
-
AOA2
-
AOA4
-
AOFMD
-
AOI
-
AOII
-
AOIII
-
AOLCA
-
AORCA
-
Aorta coarctation
-
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
-
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
-
Aortic arch defects
-
Aortic arch interruption
-
Aortic malformation
-
Aorto-left ventricular tunnel
-
Aorto-right ventricular tunnel
-
Aorto-ventricular tunnel
-
AOS
-
AOSD
-
AP4 deficiency syndrome
-
aPAP
-
APBD
-
APC-related AFAP
-
APC-related attenuated familial adenomatous polyposis
-
APC-related attenuated familial polyposis coli
-
APC-related attenuated FAP
-
APDS
-
APECED syndrome
-
Apert syndrome
-
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
-
Aphalangy-syndactyly-microcephaly syndrome
-
Aphallia
-
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
-
Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
-
Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
-
Apical ballooning syndrome
-
APLAID
-
Aplasia cutis congenita
-
Aplasia cutis congenita-epibulbar dermoids syndrome
-
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
-
Aplasia cutis congenita-nevus sebaceus syndrome
-
Aplasia cutis-myopia syndrome
-
Aplasia/hypoplasia of limbs and pelvis
-
Aplasia of lacrimal and salivary glands
-
Aplasia of the Müllerian ducts
-
Aplasia of tibia with split-hand/split-foot deformity
-
Aplastic anemia
-
APML
-
Apnea of infancy
-
Apnea of prematurity
-
ApoA-I deficiency
-
Apodia
-
Apolipoprotein A-I amyloidosis
-
Apolipoprotein A-I binding protein deficiency
-
Apolipoprotein A-I deficiency
-
Apolipoprotein A-II amyloidosis
-
Apolipoprotein A-IV amyloidosis
-
Apparent mineralocorticoid excess
-
Appendiceal epithelial tumor
-
Appendiceal mucinous adenocarcinoma
-
Appendiceal NEN
-
Appendiceal neuroendocrine neoplasm
-
Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome
-
Apple peel syndrome
-
Aprosencephaly cerebellar dysgenesis
-
APRT deficiency
-
APS
-
APS1
-
APS2
-
APS3
-
APS4
-
APS type 1
-
APS type 2
-
APS type 3
-
APS type 4
-
APV/ADA, Fallot type
-
APV/PDA, non-Fallot type
-
Aquagenic keratoderma
-
Aquagenic palmoplantar keratoderma
-
Aquagenic syringeal acrokeratoderma
-
Aquagenic wrinkling of the palms
-
Arachnodactyly-abnormal ossification-intellectual disability syndrome
-
Arachnodactyly-intellectual disability-dysmorphism syndrome
-
Arachnoid cyst
-
Arachnoiditis
-
ARAN-NM
-
ARBD
-
Arbovirus fever
-
ARCA
-
ARCA1
-
ARCA2
-
ARCI
-
ARCL1
-
ARCL1C
-
ARCL2
-
ARCL2A
-
ARCL2B
-
ARCL2, classic type
-
ARCL2, Debré type
-
ARCL2, progeroid type
-
AR-CMT1
-
AR-CMT2
-
AR-CMT2B1
-
AR-CMT2B2
-
AR-CMT2B5
-
AR-CMT2C
-
ARCMT2K
-
ARCMT2-NM
-
AR-CMT2, Ouvrier type
-
AR-CMT2T
-
AR-CMT2 with acrodystrophy
-
ARCMT2X
-
AR-CNM
-
ARC syndrome
-
AR dRTA
-
AREDYLD syndrome
-
Aregenerative anemia
-
AREI
-
Areolar atrophy of the macula
-
Argentine hemorrhagic fever
-
Argentinian hemorrhagic fever
-
Arginase deficiency
-
Argininemia
-
Argininosuccinase deficiency
-
Argininosuccinatelyase deficiency
-
Argininosuccinate synthase deficiency
-
Argininosuccinate synthetase deficiency
-
Argininosuccinic acid lyase deficiency
-
Argininosuccinic acid synthase deficiency
-
Argininosuccinic acid synthetase deficiency
-
Argininosuccinic aciduria
-
Argyria
-
AR-HED
-
ARHR
-
Arias syndrome
-
Arima syndrome
-
Arkless-Graham syndrome
-
Armfield syndrome
-
ARND
-
Arndt-Gottron disease
-
Arnold-Chiari malformation type 1
-
Arnold-Chiari malformation type 2
-
Arnold-Chiari malformation type I
-
Arnold-Chiari malformation type II
-
AR-NSID
-
Aromatase deficiency
-
Aromatase excess syndrome
-
Aromatic L-amino acid decarboxylase deficiency
-
arPEO
-
AR-PKD
-
AR pRTA
-
Arrhenoblastoma
-
Arrhinia-choanal atresia-microphthalmia syndrome
-
Arrhythmogenic right ventricular cardiomyopathy
-
Arrhythmogenic right ventricular dysplasia
-
ARSA
-
ARSACS
-
ARSAL
-
ARSB deficiency
-
AR-SPAX
-
AR-SPG9B
-
Arterial cervical rib syndrome
-
Arterial costoclavicular syndrome
-
Arterial dissection-lentiginosis syndrome
-
Arterial duct anomaly
-
Arterial-ecchymotic EDS
-
Arterial hyperabduction syndrome
-
Arterial scalenus anticus syndrome
-
Arterial thoracic outlet compression syndrome
-
Arterial thoracic outlet syndrome
-
Arterial tortuosity syndrome
-
Arterial TOS
-
Arteriohepatic dysplasia
-
Arteriohepatic dysplasia due to a JAG1 point mutation
-
Arteriohepatic dysplasia due to a NOTCH2 point mutation
-
Arteriohepatic dysplasia due to monosomy 20p12
-
Arteriovenous malformation of mandible
-
Arteriovenous malformation of maxilla
-
Arthritis urethritica
-
Arthrochalasia Ehlers-Danlos syndrome
-
Arthrochalasis multiplex congenita
-
Arthrodentoosteodysplasia
-
Arthrogryposis-ectodermal dysplasia syndrome
-
Arthrogryposis-hyperkeratosis syndrome, lethal form
-
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
-
Arthrogryposis-like syndrome
-
Arthrogryposis multiplex congenita
-
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
-
Arthrogryposis multiplex congenita-whistling face syndrome
-
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
-
Arthrogryposis-renal dysfunction-cholestasis syndrome
-
Arthrogryposis-severe scoliosis syndrome
-
Arthrogryposis syndrome
-
Arthropathy-camptodactyly syndrome
-
Arts syndrome
-
ARVC
-
ARVD
-
ARX-related encephalopathy-brain malformation spectrum
-
ARX-related epileptic encephalopathy
-
Arylsulfatase A deficiency
-
Arylsulfatase A deficiency, adult form
-
Arylsulfatase A deficiency, juvenile form
-
Arylsulfatase A deficiency, late infantile form
-
Arylsulfatase B deficiency
-
Arylsulfatase B deficiency, rapidly progressing
-
Arylsulfatase B deficiency, slowly progressing
-
ASA deficiency
-
ASAN
-
ASB deficiency
-
Asbestos intoxication
-
Asbestosis
-
Ascending aorta anomaly
-
Ascher syndrome
-
ASCT1 deficiency
-
ASD
-
ASD, coronary sinus type
-
ASD due to AUTS2 deficiency
-
ASD, ostium primum type
-
ASD, ostium secundum type
-
ASD, sinus venosus type
-
Aseptic abscesses syndrome
-
Aseptic necrosis of patella
-
Aseptic necrosis of phalangeal epiphyses
-
Aseptic necrosis of the capital femoral epiphysis
-
Aseptic necrosis of the capital humerus
-
Aseptic necrosis of the lunate bone
-
Aseptic necrosis of the tarsal bone
-
Aseptic necrosis of the tibial tubercle
-
Aseptic systemic abscesses
-
Asherman syndrome
-
Asidan
-
ASL deficiency
-
Asparagine synthetase deficiency
-
Aspartoacylase deficiency
-
Aspartylglucosaminidase deficiency
-
Aspartylglucosaminuria
-
ASPED
-
Aspergillosis
-
Asphyxiating thoracic dystrophy of the newborn
-
ASPS
-
ASSA
-
ASS deficiency
-
AS syndrome
-
Astley-Kendall dysplasia
-
Astroblastoma
-
Astrocytic tumor
-
Astrocytoma
-
Ataxia-deafness-intellectual disability syndrome
-
Ataxia-delayed dentition-hypomyelination syndrome
-
Ataxia-diabetes-goiter-gonadal insufficiency syndrome
-
Ataxia-hearing loss-intellectual disability syndrome
-
Ataxia-hypogonadism-choroidal dystrophy syndrome
-
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
-
Ataxia neuropathy spectrum
-
Ataxia-oculomotor apraxia type 1
-
Ataxia-oculomotor apraxia type 2
-
Ataxia-oculomotor apraxia type 4
-
Ataxia-pancytopenia syndrome
-
Ataxia-photosensitivity-short stature syndrome
-
Ataxia-tapetoretinal degeneration syndrome
-
Ataxia-telangiectasia
-
Ataxia-telangiectasia-like disorder
-
Ataxia-telangiectasia variant
-
Ataxia-telangiectasia, variant 1
-
Ataxia with dementia
-
Ataxia with isolated vitamin E deficiency
-
Ataxia with lactic acidosis type 2
-
Ataxia with lactic acidosis type II
-
Ataxia with pigmentary retinopathy
-
Ataxia with vitamin E deficiency
-
Ataxie spinocérébelleuse à début infantile avec retard psychomoteur
-
Ataxo-opso-myoclonus syndrome
-
Atelosteogenesis type 1
-
Atelosteogenesis type 2
-
Atelosteogenesis type 3
-
Atelosteogenesis type I
-
Atelosteogenesis type II
-
Atelosteogenesis type III
-
Athabascan brainstem dysgenesis syndrome
-
Athabaskan brainstem dysgenesis syndrome
-
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
-
Athyreosis
-
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
-
ATIC deficiency
-
Atkin-Flaitz syndrome
-
ATLD
-
ATLL
-
ATMDS
-
ATM/TM
-
Atopic keratoconjunctivitis
-
ATOS
-
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
-
ATP13A2-related parkinsonism
-
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
-
ATP1A1-related CMT2
-
ATP7A-related distal motor neuropathy
-
ATP-binding cassette transporter A1 deficiency
-
ATR-16 syndrome
-
Atresia of small intestine
-
Atresia of urethra
-
Atrial appendage anomaly
-
Atrial auricle anomaly
-
Atrial cardiomyopathy with heart block
-
Atrial defect and interauricular communication
-
Atrial septal aneurysm
-
Atrial septal defect
-
Atrial septal defect-atrioventricular conduction defects syndrome
-
Atrial septal defect, coronary sinus type
-
Atrial septal defect, ostium primum type
-
Atrial septal defect, ostium secundum type
-
Atrial septal defect, sinus venosus type
-
Atrial standstill
-
Atrial tachyarrhythmia with short PR interval
-
Atrichia with papular lesions
-
Atriodigital dysplasia
-
Atriodigital dysplasia, Slovenian type
-
Atriodigital dysplasia type 1
-
Atriodigital dysplasia type 2
-
Atriodigital dysplasia type 3
-
Atrioventricular canal defect
-
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
-
Atrioventricular septal defect
-
Atrioventricular valve anomaly
-
Atrophia areata
-
Atrophia bulborum hereditaria
-
Atrophic lichen planus
-
Atrophic LP
-
Atrophoderma vermiculata
-
ATR syndrome, deletion type
-
ATR syndrome linked to chromosome 16
-
ATRT
-
ATRUS syndrome
-
ATR-X-related syndrome
-
ATR-X syndrome
-
ATS
-
ATS-MR
-
Attenuated Chédiak-Higashi syndrome
-
Attenuated familial adenomatous polyposis
-
Attenuated familial polyposis coli
-
Attenuated FAP
-
ATTR cardiomyopathy
-
ATTRV122I amyloidosis
-
ATTRV122I-related amyloidosis
-
ATTRV30M amyloidosis
-
ATTRV30M-related amyloidosis
-
ATTRwt amyloidosis
-
ATTRwt-related amyloidosis
-
AT V1
-
Atypical autism
-
Atypical Chédiak-Higashi syndrome
-
Atypical choroid plexus papilloma
-
Atypical chronic myeloid leukemia
-
Atypical coarctation of aorta
-
Atypical CPP
-
Atypical Demons-Meigs syndrome
-
Atypical dentin dysplasia due to SMOC2 deficiency
-
Atypical facial pain
-
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
-
Atypical Gaucher disease due to saposin C deficiency
-
Atypical glycine encephalopathy
-
Atypical granular corneal dystrophy
-
Atypical HCS
-
Atypical hemolytic uremic syndrome
-
Atypical hemolytic uremic syndrome with anti-factor H antibodies
-
Atypical hemolytic uremic syndrome with B factor anomaly
-
Atypical hemolytic uremic syndrome with C3 anomaly
-
Atypical hemolytic uremic syndrome with complement gene abnormality
-
Atypical hemolytic uremic syndrome with H factor anomaly
-
Atypical hemolytic uremic syndrome with I factor anomaly
-
Atypical hemolytic uremic syndrome with MCP/CD46 anomaly
-
Atypical hemolytic uremic syndrome with thrombomodulin anomaly
-
Atypical HUS
-
Atypical HUS with anti-factor H antibodies
-
Atypical HUS with B factor anomaly
-
Atypical HUS with C3 anomaly
-
Atypical HUS with H factor anomaly
-
Atypical HUS with I factor anomaly
-
Atypical HUS with MCP/CD46 anomaly
-
Atypical HUS with thrombomodulin anomaly
-
Atypical hypotonia-cystinuria syndrome
-
Atypical juvenile parkinsonism
-
Atypical lichen myxedematosus
-
Atypical lipoma
-
Atypical lipomatous tumor
-
Atypical Meigs syndrome
-
Atypical MRKH syndrome
-
Atypical NKA
-
Atypical non-ketotic hyperglycinemia
-
Atypical Norrie disease due to del(X)(p11.3)
-
Atypical Norrie disease due to nullisomy Xp11.3
-
Atypical Norrie disease due to Xp11.3 microdeletion
-
Atypical pantothenate kinase-associated neurodegeneration
-
Atypical papilloma of choroid plexus
-
Atypical parkinsonism in the Caribbean
-
Atypical progeroid syndrome
-
Atypical progressive supranuclear palsy syndrome
-
Atypical PSP syndrome
-
Atypical Rett syndrome
-
Atypical RTT
-
Atypical teratoid rhabdoid tumor
-
Atypical tuberous myxedema of Jadassohn-Dosseker
-
Atypical Werner syndrome
-
Atypical X-linked achromatopsia
-
Audiogenic seizures
-
Auditory neuropathy-optic atrophy syndrome
-
Aughton-Hufnagle syndrome
-
Au-Kline syndrome
-
Aural atresia-multiple congenital anomalies-intellectual disability syndrome
-
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
-
Auriculocondylar syndrome
-
Auriculoosteodysplasia
-
Ausems-Wittebol Post-Hennekam syndrome
-
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
-
Autism-facial port-wine stain syndrome
-
Autism spectrum disorder due to AUTS2 deficiency
-
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
-
Autoerythrocyte sensitization syndrome
-
Autoimmune Addison disease
-
Autoimmune adrenalitis
-
Autoimmune bullous skin disease
-
Autoimmune disease with skin involvement
-
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
-
Autoimmune enteropathy
-
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
-
Autoimmune enteropathy type 1
-
Autoimmune hemolytic anemia
-
Autoimmune hemolytic anemia and autoimmune thrombocytopenia
-
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
-
Autoimmune hemolytic anemia, cold type
-
Autoimmune hemolytic anemia, warm type
-
Autoimmune hepatitis
-
Autoimmune hypoparathyroidism
-
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
-
Autoimmune hypophysitis
-
Autoimmune/inflammatory optic neuropathy
-
Autoimmune interstitial lung disease-arthritis syndrome
-
Autoimmune lymphoproliferative syndrome
-
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
-
Autoimmune lymphoproliferative syndrome with recurrent viral infections
-
Autoimmune myasthenia gravis
-
Autoimmune necrotizing myositis
-
Autoimmune neurological channelopathy
-
Autoimmune pancreatitis
-
Autoimmune pancreatitis type 1
-
Autoimmune pancreatitis type 2
-
Autoimmune PAP
-
Autoimmune polyendocrine syndrome type 1
-
Autoimmune polyendocrine syndrome type 2
-
Autoimmune polyendocrine syndrome type 3
-
Autoimmune polyendocrine syndrome type 4
-
Autoimmune polyendocrinopathy
-
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
-
Autoimmune polyendocrinopathy type 1
-
Autoimmune polyendocrinopathy type 2
-
Autoimmune polyendocrinopathy type 3
-
Autoimmune polyendocrinopathy type 4
-
Autoimmune polyglandular syndrome
-
Autoimmune polyglandular syndrome type 1
-
Autoimmune polyglandular syndrome type 2
-
Autoimmune polyglandular syndrome type 3
-
Autoimmune polyglandular syndrome type 4
-
Autoimmune pulmonary alveolar proteinosis
-
Autoimmune thrombocytopenia
-
Autoimmune thrombotic thrombocytopenic purpura
-
Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
-
Autoinflammation-lipodystrophy-dermatosis syndrome
-
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
-
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
-
Autoinflammatory syndrome
-
Autoinflammatory syndrome of childhood
-
Autoinflammatory syndrome with immune deficiency
-
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
-
Autoinflammatory syndrome with skin involvement
-
Autosomal agammaglobulinemia
-
Autosomal anomaly
-
Autosomal deletion
-
Autosomal dominant adult-onset proximal SMA
-
Autosomal dominant adult-onset proximal spinal muscular atrophy
-
Autosomal dominant Alport syndrome
-
Autosomal dominant anhidrotic ectodermal dysplasia
-
Autosomal dominant aplasia and myelodysplasia
-
Autosomal dominant aplastic anemia and myelodysplasia
-
Autosomal dominant axonal Charcot-Marie-Tooth disease
-
Autosomal dominant benign distal spinal muscular atrophy
-
Autosomal dominant beta2-microglobulinic amyloidosis
-
Autosomal dominant brachyolmia
-
Autosomal dominant centronuclear myopathy
-
Autosomal dominant cerebellar ataxia
-
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
-
Autosomal dominant cerebellar ataxia type 1
-
Autosomal dominant cerebellar ataxia type 2
-
Autosomal dominant cerebellar ataxia type 3
-
Autosomal dominant cerebellar ataxia type 4
-
Autosomal dominant cerebellar ataxia type I
-
Autosomal dominant cerebellar ataxia type II
-
Autosomal dominant cerebellar ataxia type III
-
Autosomal dominant cerebellar ataxia type IV
-
Autosomal dominant Charcot-Marie-Tooth disease type 2
-
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
-
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
-
Autosomal dominant Charcot-Marie-Tooth disease type 2B
-
Autosomal dominant Charcot-Marie-Tooth disease type 2C
-
Autosomal dominant Charcot-Marie-Tooth disease type 2D
-
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
-
Autosomal dominant Charcot-Marie-Tooth disease type 2E
-
Autosomal dominant Charcot-Marie-Tooth disease type 2F
-
Autosomal dominant Charcot-Marie-Tooth disease type 2G
-
Autosomal dominant Charcot-Marie-Tooth disease type 2I
-
Autosomal dominant Charcot-Marie-Tooth disease type 2J
-
Autosomal dominant Charcot-Marie-Tooth disease type 2K
-
Autosomal dominant Charcot-Marie-Tooth disease type 2L
-
Autosomal dominant Charcot-Marie-Tooth disease type 2M
-
Autosomal dominant Charcot-Marie-Tooth disease type 2N
-
Autosomal dominant Charcot-Marie-Tooth disease type 2O
-
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
-
Autosomal dominant Charcot-Marie-Tooth disease type 2U
-
Autosomal dominant Charcot-Marie-Tooth disease type 2V
-
Autosomal dominant Charcot-Marie-Tooth disease type 2W
-
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
-
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
-
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
-
Autosomal dominant CHED
-
Autosomal dominant childhood-onset proximal spinal muscular atrophy
-
Autosomal dominant coarctation of aorta
-
Autosomal dominant complex HSP
-
Autosomal dominant complex spastic paraplegia
-
Autosomal dominant complex SPG
-
Autosomal dominant complicated HSP
-
Autosomal dominant complicated spastic paraplegia
-
Autosomal dominant complicated SPG
-
Autosomal dominant congenital benign spinal muscular atrophy
-
Autosomal dominant congenital hereditary endothelial dystrophy
-
Autosomal dominant cortical myoclonus and epilepsy
-
Autosomal dominant cutis laxa
-
Autosomal dominant cystoid macular edema
-
Autosomal dominant deafness-onychodystrophy syndrome
-
Autosomal dominant demyelinating Charcot-Marie-Tooth disease
-
Autosomal dominant dHMN
-
Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis
-
Autosomal dominant diffuse mutilating palmoplantar keratoderma
-
Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type
-
Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature
-
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
-
Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature
-
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
-
Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature
-
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
-
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
-
Autosomal dominant distal hereditary motor neuropathy
-
Autosomal dominant distal juvenile spinal muscular atrophy type 1
-
Autosomal dominant distal myopathy
-
Autosomal dominant distal renal tubular acidosis
-
Autosomal dominant distal spinal muscular atrophy
-
Autosomal dominant dopa-responsive dystonia
-
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
-
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome
-
Autosomal dominant Emery-Dreifuss muscular dystrophy
-
Autosomal dominant epidermolytic ichthyosis
-
Autosomal dominant epilepsy with auditory features
-
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
-
Autosomal dominant focal dystonia, DYT25 type
-
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
-
Autosomal dominant gingival fibromatosis
-
Autosomal dominant gingival hyperplasia
-
Autosomal dominant hereditary axonal motor and sensory neuropathy
-
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
-
Autosomal dominant hereditary hemochromatosis
-
Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
-
Autosomal dominant hereditary sensory and autonomic neuropathy
-
Autosomal dominant HIES
-
Autosomal dominant hyper-IgE syndrome
-
Autosomal dominant hyperimmunoglobulin E syndrome
-
Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
-
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
-
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
-
Autosomal dominant hyperinsulinism due to SUR1 deficiency
-
Autosomal dominant hypocalcemia
-
Autosomal dominant hypohidrotic ectodermal dysplasia
-
Autosomal dominant hypophosphatemia
-
Autosomal dominant hypophosphatemic rickets
-
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
-
Autosomal dominant intermediate Charcot-Marie-Tooth disease
-
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
-
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
-
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
-
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
-
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
-
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
-
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
-
Autosomal dominant isolated diffuse palmoplantar hyperkeratosis
-
Autosomal dominant isolated diffuse palmoplantar keratoderma
-
Autosomal dominant isolated neurosensory deafness type DFNA
-
Autosomal dominant isolated neurosensory hearing loss type DFNA
-
Autosomal dominant isolated sensorineural deafness type DFNA
-
Autosomal dominant isolated sensorineural hearing loss type DFNA
-
Autosomal dominant Kenny-Caffey syndrome
-
Autosomal dominant keratitis
-
Autosomal dominant keratoconus with early-onset anterior polar cataracts
-
Autosomal dominant late-onset Parkinson disease
-
Autosomal dominant late-onset retinal degeneration
-
Autosomal dominant late-onset spinal muscular atrophy, Finkel type
-
Autosomal dominant lateral temporal lobe epilepsy
-
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
-
Autosomal dominant limb-girdle muscular dystrophy
-
Autosomal dominant limb-girdle muscular dystrophy type 1A
-
Autosomal dominant limb-girdle muscular dystrophy type 1B
-
Autosomal dominant limb-girdle muscular dystrophy type 1C
-
Autosomal dominant limb-girdle muscular dystrophy type 1D
-
Autosomal dominant limb-girdle muscular dystrophy type 1E
-
Autosomal dominant limb-girdle muscular dystrophy type 1F
-
Autosomal dominant limb-girdle muscular dystrophy type 1G
-
Autosomal dominant limb-girdle muscular dystrophy type 1H
-
Autosomal dominant macrothrombocytopenia
-
Autosomal dominant medullary cystic kidney disease
-
Autosomal dominant medullary cystic kidney disease type 2
-
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
-
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
-
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
-
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
-
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
-
Autosomal dominant mitochondrial myopathy with exercise intolerance
-
Autosomal dominant MSMD due to a partial deficiency
-
Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
-
Autosomal dominant MSMD due to partial IFNgammaR2 deficiency
-
Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
-
Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
-
Autosomal dominant multiple pterygium syndrome
-
Autosomal dominant myoglobinuria
-
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
-
Autosomal dominant neovascular inflammatory vitreoretinopathy
-
Autosomal dominant nocturnal frontal lobe epilepsy
-
Autosomal dominant non-syndromic intellectual disability
-
Autosomal dominant non-syndromic neurosensory deafness type DFNA
-
Autosomal dominant non-syndromic neurosensory hearing loss type DFNA
-
Autosomal dominant non-syndromic sensorineural deafness type DFNA
-
Autosomal dominant non-syndromic sensorineural hearing loss type DFNA
-
Autosomal dominant omodysplasia
-
Autosomal dominant Opitz BBB/G syndrome
-
Autosomal dominant Opitz G/BBB syndrome
-
Autosomal dominant Opitz syndrome
-
Autosomal dominant optic atrophy
-
Autosomal dominant optic atrophy and cataract
-
Autosomal dominant optic atrophy and peripheral neuropathy
-
Autosomal dominant optic atrophy, classic form
-
Autosomal dominant optic atrophy, Kjer type
-
Autosomal dominant optic atrophy plus syndrome
-
Autosomal dominant optic atrophy type 3
-
Autosomal dominant osteopetrosis type 1
-
Autosomal dominant osteosclerosis, Stanescu type
-
Autosomal dominant osteosclerosis, Worth type
-
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
-
Autosomal dominant palmoplantar keratoderma and congenital alopecia
-
Autosomal dominant polycystic kidney disease
-
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
-
Autosomal dominant polycystic liver disease
-
Autosomal dominant popliteal pterygium syndrome
-
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
-
Autosomal dominant primary hypomagnesemia with hypocalciuria
-
Autosomal dominant primary microcephaly
-
Autosomal dominant prognathism
-
Autosomal dominant progressive external ophthalmoplegia
-
Autosomal dominant progressive nephropathy with hypertension
-
Autosomal dominant proximal renal tubular acidosis
-
Autosomal dominant proximal spinal muscular atrophy
-
Autosomal dominant pseudohypoaldosteronism type 1
-
Autosomal dominant pure HSP
-
Autosomal dominant pure spastic paraplegia
-
Autosomal dominant pure SPG
-
Autosomal dominant rhegmatogenous retinal detachment
-
Autosomal dominant Robinow syndrome
-
Autosomal dominant secondary erythrocytosis
-
Autosomal dominant secondary polycythemia
-
Autosomal dominant Segawa syndrome
-
Autosomal dominant severe congenital neutropenia
-
Autosomal dominant sleep-related hypermotor epilepsy
-
Autosomal dominant slowed nerve conduction velocity
-
Autosomal dominant spastic ataxia
-
Autosomal dominant spastic ataxia type 1
-
Autosomal dominant spastic ataxia type 7
-
Autosomal dominant spastic paraplegia type 10
-
Autosomal dominant spastic paraplegia type 12
-
Autosomal dominant spastic paraplegia type 13
-
Autosomal dominant spastic paraplegia type 17
-
Autosomal dominant spastic paraplegia type 19
-
Autosomal dominant spastic paraplegia type 29
-
Autosomal dominant spastic paraplegia type 3
-
Autosomal dominant spastic paraplegia type 31
-
Autosomal dominant spastic paraplegia type 36
-
Autosomal dominant spastic paraplegia type 37
-
Autosomal dominant spastic paraplegia type 38
-
Autosomal dominant spastic paraplegia type 4
-
Autosomal dominant spastic paraplegia type 41
-
Autosomal dominant spastic paraplegia type 42
-
Autosomal dominant spastic paraplegia type 6
-
Autosomal dominant spastic paraplegia type 73
-
Autosomal dominant spastic paraplegia type 8
-
Autosomal dominant spastic paraplegia type 9A
-
Autosomal dominant spastic paraplegia type 9B
-
Autosomal dominant spinocerebellar ataxia
-
Autosomal dominant spondylocostal dysostosis
-
Autosomal dominant spondylocostal dysplasia
-
Autosomal dominant striatal neurodegeneration
-
Autosomal dominant thrombocytopenia with platelet secretion defect
-
Autosomal dominant tubulointerstitial kidney disease
-
Autosomal dominant uncomplicated HSP
-
Autosomal dominant uncomplicated spastic paraplegia
-
Autosomal dominant uncomplicated SPG
-
Autosomal dominant vitreoretinochoroidopathy
-
Autosomal duplication
-
Autosomal erythropoietic protoporphyria
-
Autosomal ichthyosis syndrome
-
Autosomal ichthyosis syndrome with fatal disease course
-
Autosomal ichthyosis syndrome with other associated signs
-
Autosomal ichthyosis syndrome with prominent hair abnormalities
-
Autosomal ichthyosis syndrome with prominent neurologic signs
-
Autosomal monosomy
-
Autosomal recessive Alport syndrome
-
Autosomal recessive amelia
-
Autosomal recessive anhidrotic ectodermal dysplasia
-
Autosomal recessive anterior segment dysgenesis
-
Autosomal recessive aplasia cutis
-
Autosomal recessive ataxia, Beauce type
-
Autosomal recessive ataxia due to coenzyme Q10 deficiency
-
Autosomal recessive ataxia due to PEX10 deficiency
-
Autosomal recessive ataxia due to ubiquinone deficiency
-
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
-
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
-
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
-
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
-
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
-
Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy
-
Autosomal recessive axonal CMT4C1
-
Autosomal recessive axonal CMT4C2
-
Autosomal recessive axonal CMT4C3
-
Autosomal recessive axonal CMT4C4
-
Autosomal recessive axonal hereditary motor and sensory neuropathy
-
Autosomal recessive axonal neuropathy with neuromyotonia
-
Autosomal recessive bestrophinopathy
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Autosomal recessive brachyolmia
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Autosomal recessive centronuclear myopathy
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Autosomal recessive cerebellar ataxia
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Autosomal recessive cerebellar ataxia due to a DNA repair defect
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Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
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Autosomal recessive cerebellar ataxia due to GBA2 deficiency
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Autosomal recessive cerebellar ataxia due to STUB1 deficiency
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Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
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Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
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Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
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Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
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Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
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Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
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Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
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Autosomal recessive cerebellar ataxia type 1
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Autosomal recessive cerebellar ataxia type 2
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Autosomal recessive cerebellar ataxia with late-onset spasticity
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Autosomal recessive cerebelloparenchymal disorder type 3
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Autosomal recessive cerebral atrophy
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Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
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Autosomal recessive Charcot-Marie-Tooth disease type 2B1
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Autosomal recessive Charcot-Marie-Tooth disease type 2B5
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Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation
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Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
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Autosomal recessive Charcot-Marie-Tooth disease type 2X
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Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
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Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
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Autosomal recessive CHED
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Autosomal recessive childhood-onset dystonia, DYT29 type
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Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
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Autosomal recessive chorioretinopathy-microcephaly syndrome
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Autosomal recessive complex HSP
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Autosomal recessive complex spastic paraplegia
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Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
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Autosomal recessive complex SPG
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Autosomal recessive complex SPG due to Kennedy pathway dysfunction
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Autosomal recessive complicated HSP
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Autosomal recessive complicated spastic paraplegia
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Autosomal recessive complicated SPG
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Autosomal recessive congenital cerebellar ataxia
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Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
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Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
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Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
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Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
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Autosomal recessive congenital hereditary endothelial dystrophy
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Autosomal recessive congenital hypomyelinating neuropathy
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Autosomal recessive congenital ichthyosis
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Autosomal recessive cutis laxa, pulmonary emphysema type
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Autosomal recessive cutis laxa type 1
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Autosomal recessive cutis laxa type 1C
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Autosomal recessive cutis laxa type 2
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Autosomal recessive cutis laxa type 2A
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Autosomal recessive cutis laxa type 2B
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Autosomal recessive cutis laxa type 2, classic type
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Autosomal recessive cutis laxa type 2, Debré type
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Autosomal recessive cutis laxa type 2, progeroid type
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Autosomal recessive cutis laxa with severe systemic involvement
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Autosomal recessive deafness-onychodystrophy syndrome
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Autosomal recessive degenerative and progressive cerebellar ataxia
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Autosomal recessive demyelinating Charcot-Marie-Tooth
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Autosomal recessive dHMN
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Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature
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Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
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Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature
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Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
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Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature
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Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
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Autosomal recessive distal hereditary motor neuropathy
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Autosomal recessive distal myopathy
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Autosomal recessive distal osteolysis syndrome
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Autosomal recessive distal renal tubular acidosis
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Autosomal recessive distal RTA
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Autosomal recessive distal spinal muscular atrophy
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Autosomal recessive distal spinal muscular atrophy type 1
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Autosomal recessive distal spinal muscular atrophy type 2
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Autosomal recessive distal spinal muscular atrophy type 3
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Autosomal recessive distal spinal muscular atrophy type 4
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Autosomal recessive distal spinal muscular atrophy type 5
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Autosomal recessive dopa-responsive dystonia
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Autosomal recessive dSMA
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Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
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Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
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Autosomal recessive dystrophic epidermolysis bullosa, generalized other
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Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
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Autosomal recessive Emery-Dreifuss muscular dystrophy
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Autosomal recessive epidermolytic ichthyosis
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Autosomal recessive exfoliative ichthyosis
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Autosomal recessive faciodigitogenital syndrome
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Autosomal recessive frontotemporal pachygyria
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Autosomal recessive hereditary demyelinating motor and sensory neuropathy
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Autosomal recessive hereditary sensory and autonomic neuropathy
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Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
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Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
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Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
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Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
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Autosomal recessive hyperinsulinism due to SUR1 deficiency
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Autosomal recessive hypohidrotic ectodermal dysplasia
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Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
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Autosomal recessive hypophosphatemic rickets
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Autosomal recessive infantile hypercalcemia
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Autosomal recessive infantile nephronophthisis
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Autosomal recessive infantile NPHP
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Autosomal recessive intellectual disability due to TRAPPC9 deficiency
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Autosomal recessive intermediate Charcot-Marie-Tooth disease
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
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Autosomal recessive intermediate osteopetrosis
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Autosomal recessive isolated diffuse palmoplantar hyperkeratosis
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Autosomal recessive isolated diffuse palmoplantar keratoderma
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Autosomal recessive isolated neurosensory deafness type DFNB
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Autosomal recessive isolated optic atrophy
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Autosomal recessive isolated sensorineural deafness type DFNB
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Autosomal recessive Kenny-Caffey syndrome
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Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
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Autosomal recessive lethal multiple pterygium syndrome
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Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
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Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
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Autosomal recessive limb-girdle muscular dystrophy
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Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
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Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
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Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
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Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
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Autosomal recessive limb-girdle muscular dystrophy type 2A
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Autosomal recessive limb-girdle muscular dystrophy type 2B
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Autosomal recessive limb-girdle muscular dystrophy type 2C
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Autosomal recessive limb-girdle muscular dystrophy type 2D
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Autosomal recessive limb-girdle muscular dystrophy type 2E
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Autosomal recessive limb-girdle muscular dystrophy type 2F
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Autosomal recessive limb-girdle muscular dystrophy type 2G
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Autosomal recessive limb-girdle muscular dystrophy type 2H
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Autosomal recessive limb-girdle muscular dystrophy type 2I
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Autosomal recessive limb-girdle muscular dystrophy type 2J
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Autosomal recessive limb-girdle muscular dystrophy type 2K
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Autosomal recessive limb-girdle muscular dystrophy type 2L
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Autosomal recessive limb-girdle muscular dystrophy type 2M
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Autosomal recessive limb-girdle muscular dystrophy type 2N
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Autosomal recessive limb-girdle muscular dystrophy type 2O
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Autosomal recessive limb-girdle muscular dystrophy type 2P
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Autosomal recessive limb-girdle muscular dystrophy type 2Q
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Autosomal recessive limb-girdle muscular dystrophy type 2R
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Autosomal recessive limb-girdle muscular dystrophy type 2S
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Autosomal recessive limb-girdle muscular dystrophy type 2T
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Autosomal recessive limb-girdle muscular dystrophy type 2U
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Autosomal recessive limb-girdle muscular dystrophy type 2W
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Autosomal recessive limb-girdle muscular dystrophy type 2X
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Autosomal recessive limb-girdle muscular dystrophy type 2Y
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Autosomal recessive limb-girdle muscular dystrophy type 2Z
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Autosomal recessive lower motor neuron disease with childhood onset
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Autosomal recessive lymphoproliferative disease due to CD27 deficiency
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Autosomal recessive lymphoproliferative disease due to ITK deficiency
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Autosomal recessive malignant osteopetrosis
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
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Autosomal recessive metabolic cerebellar ataxia
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Autosomal recessive metaphyseal chondrodysplasia
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Autosomal recessive methemoglobinemia
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Autosomal recessive MSMD due to a complete deficiency
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Autosomal recessive MSMD due to a partial deficiency
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Autosomal recessive MSMD due to complete RORgamma receptor defiency
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Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
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Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
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Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
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Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
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Autosomal recessive multiple epiphyseal dysplasia
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Autosomal recessive multiple pterygium syndrome
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Autosomal recessive muscular dystrophy due to LAP1B deficiency
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Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
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Autosomal recessive myogenic AMC
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Autosomal recessive myogenic arthrogryposis multiplex congenita
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Autosomal recessive nail dysplasia
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Autosomal recessive non-lethal multiple pterygium syndrome
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Autosomal recessive non-syndromic intellectual disability
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Autosomal recessive non-syndromic neurosensory deafness type DFNB
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Autosomal recessive non-syndromic optic atrophy
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Autosomal recessive non-syndromic sensorineural deafness type DFNB
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Autosomal recessive omodysplasia
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Autosomal recessive optic atrophy, OPA7 type
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Autosomal recessive optic atrophy plus syndrome
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Autosomal recessive optic atrophy type 3
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Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
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Autosomal recessive osteopetrosis type 7
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Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
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Autosomal recessive palmoplantar keratoderma and congenital alopecia
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Autosomal recessive polycystic kidney disease
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Autosomal recessive popliteal pterygium syndrome
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Autosomal recessive posterior column ataxia and retinitis pigmentosa
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Autosomal recessive primary immunodeficiency due to RORC mutation
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Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
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Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
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Autosomal recessive primary microcephaly
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Autosomal recessive progressive external ophthalmoplegia
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Autosomal recessive proximal renal tubular acidosis
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Autosomal recessive pseudohypoaldosteronism type 1
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Autosomal recessive pure HSP
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Autosomal recessive pure spastic paraplegia
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Autosomal recessive pure SPG
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Autosomal recessive Robinow syndrome
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Autosomal recessive secondary erythrocytosis, non-Chuvash type
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Autosomal recessive secondary erythrocytosis not associated with VHL gene
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Autosomal recessive secondary polycythemia, non-Chuvash type
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Autosomal recessive secondary polycythemia not associated with VHL gene
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Autosomal recessive Segawa syndrome
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Autosomal recessive sensory radicular neuropathy
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Autosomal recessive sepiapterin reductase-deficient DRD
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Autosomal recessive severe congenital neutropenia
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Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
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Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
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Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
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Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
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Autosomal recessive sideroblastic anemia
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Autosomal recessive spastic ataxia
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay
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Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
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Autosomal recessive spastic ataxia type 3
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Autosomal recessive spastic ataxia type 4
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Autosomal recessive spastic ataxia type 5
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Autosomal recessive spastic ataxia type 6
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Autosomal recessive spastic ataxia with leukoencephalopathy
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Autosomal recessive spastic paraplegia-disc herniation syndrome
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Autosomal recessive spastic paraplegia type 11
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Autosomal recessive spastic paraplegia type 14
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Autosomal recessive spastic paraplegia type 15
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Autosomal recessive spastic paraplegia type 18
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Autosomal recessive spastic paraplegia type 20
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Autosomal recessive spastic paraplegia type 21
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Autosomal recessive spastic paraplegia type 23
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Autosomal recessive spastic paraplegia type 24
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Autosomal recessive spastic paraplegia type 25
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Autosomal recessive spastic paraplegia type 26
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Autosomal recessive spastic paraplegia type 27
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Autosomal recessive spastic paraplegia type 28
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Autosomal recessive spastic paraplegia type 32
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Autosomal recessive spastic paraplegia type 35
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Autosomal recessive spastic paraplegia type 39
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Autosomal recessive spastic paraplegia type 43
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Autosomal recessive spastic paraplegia type 44
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Autosomal recessive spastic paraplegia type 45
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Autosomal recessive spastic paraplegia type 46
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Autosomal recessive spastic paraplegia type 48
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Autosomal recessive spastic paraplegia type 49
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Autosomal recessive spastic paraplegia type 53
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Autosomal recessive spastic paraplegia type 54
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Autosomal recessive spastic paraplegia type 55
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Autosomal recessive spastic paraplegia type 56
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Autosomal recessive spastic paraplegia type 57
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Autosomal recessive spastic paraplegia type 59
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Autosomal recessive spastic paraplegia type 5A
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Autosomal recessive spastic paraplegia type 60
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Autosomal recessive spastic paraplegia type 61
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Autosomal recessive spastic paraplegia type 62
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Autosomal recessive spastic paraplegia type 63
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Autosomal recessive spastic paraplegia type 64
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Autosomal recessive spastic paraplegia type 65
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Autosomal recessive spastic paraplegia type 66
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Autosomal recessive spastic paraplegia type 67
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Autosomal recessive spastic paraplegia type 68
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Autosomal recessive spastic paraplegia type 69
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Autosomal recessive spastic paraplegia type 70
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Autosomal recessive spastic paraplegia type 71
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Autosomal recessive spastic paraplegia type 74
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Autosomal recessive spastic paraplegia type 75
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Autosomal recessive spastic paraplegia type 76
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Autosomal recessive spastic paraplegia type 77
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Autosomal recessive spastic paraplegia type 78
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Autosomal recessive spastic paraplegia type 9B
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Autosomal recessive spinal muscular atrophy with respiratory distress
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Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
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Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
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Autosomal recessive spinocerebellar ataxia type 10
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Autosomal recessive spinocerebellar ataxia type 11
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Autosomal recessive spinocerebellar ataxia type 12
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Autosomal recessive spinocerebellar ataxia type 13
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Autosomal recessive spinocerebellar ataxia type 14
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Autosomal recessive spinocerebellar ataxia type 15
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Autosomal recessive spinocerebellar ataxia type 2
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Autosomal recessive spinocerebellar ataxia type 20
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Autosomal recessive spinocerebellar ataxia type 21
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Autosomal recessive spinocerebellar ataxia type 3
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Autosomal recessive spinocerebellar ataxia type 6
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Autosomal recessive spinocerebellar ataxia type 7
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Autosomal recessive spinocerebellar ataxia type 9
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Autosomal recessive spondylocostal dysostosis
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Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
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Autosomal recessive Stickler syndrome
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Autosomal recessive syndromic cerebellar ataxia
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Autosomal recessive thrombophilia due to congenital protein C deficiency
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Autosomal recessive thrombophilia due to congenital protein S deficiency
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Autosomal recessive thrombophilia due to PC deficiency
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Autosomal recessive uncomplicated HSP
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Autosomal recessive uncomplicated spastic paraplegia
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Autosomal recessive uncomplicated SPG
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Autosomal semi-dominant severe lipodystrophic laminopathy
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Autosomal SLE
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Autosomal spastic ataxia type 2
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Autosomal spastic paraplegia type 30
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Autosomal spastic paraplegia type 58
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Autosomal spastic paraplegia type 72
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Autosomal systemic lupus erythematosus
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Autosomal thrombocytopenia with normal platelets
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Autosomal trisomy
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Autosomal uniparental disomy
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AUTS2 syndrome
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Avascular necrosis
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Avascular necrosis of genetic origin
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AVED
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Avellino corneal dystrophy
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Avian influenza
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AVMD
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AVN
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AVSD
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AxD
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AxD type I
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AxD type II
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Axenfeld anomaly
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Axenfeld-Rieger syndrome
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Axenfeld syndrome
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Axial mesodermal dysplasia spectrum
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Axial osteosclerosis
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Axial spondylometaphyseal dysplasia
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AXIN2-related AFAP
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AXIN2-related attenuated familial adenomatous polyposis
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AXIN2-related attenuated familial polyposis coli
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AXIN2-related attenuated FAP
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Axonal Charcot-Marie-Tooth disease with pyramidal involvement
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Axonal hereditary motor and sensory neuropathy
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Axonal HMSN
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Axonal neuropathy-optic atrophy-cognitive deficit syndrome
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Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
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Ayazi syndrome
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Aymé-Gripp syndrome
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Azathioprine or 6-mercatopurine toxicity or dose selection
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AZOOR
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Azoospermia-sinopulmonary infections syndrome
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Azorean disease of the nervous system
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Azygos continuation of the inferior caval vein
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Azygos continuation of the inferior vena cava
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Azygos continuation of the IVC
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