Disease Search
- AADC deficiency
- Aagenaes Syndrome
- Aarskog syndrome
- Aarskog-Scott syndrome
- Aase Smith Syndrome I
- Aase Smith Syndrome II
- Aase syndrome
- Aase-Smith Syndrome
- ABCB4 gene mutation-associtated cholelihiasis
- ABCD syndrome
- Abderhalden Kaufmann Lignac Syndrome
- Abdominal aortic aneurysm
- Abdominal Chemodectomas with Cutaneous Angiolipomas
- Abdominal Cystic Lymphangioma
- Abdominal Lymphangiomatosis
- Abdominal Obesity Metabolic Syndrome
- Abdominal retroperitoneal lymphangioma
- Abernethy malformation
- Aberrant Subclavian Artery
- Abetalipoproteinemia
- Ablepharon macrostomia syndrome
- Abnormally heavy menstrual bleeding
- Abnormally slow heart rate
- Abrikosoff's granulous cell tumor
- Abrikosov's Tumor
- Abruzzo Erickson Syndrome
- Absence of Fingerprints Congenital Milia
- Absence of Gluteal Muscle
- Absence of menstruation
- Absence of second premolars and third molars
- Absence of Septum Pellucidum
- Absence of the testes, congenital or acquired
- Absence of Tibia
- Absence of Tibia with Polydactyly
- Absence seizures
- Absense of fingerprints with congenital milia
- Absent Breasts and Nipples
- Absent Corpus Callosum Cataract Immunodeficiency
- Absent T Lymphocytes
- Abuse Dwarfism Syndrome
- ACADVL
- Acalvaria
- Acanthamoeba Infection
- Acanthocheilonemiasis
- Acanthocheilonemiasis perstans
- Acanthocytosis
- Acanthoma
- Acanthosis Nigricans
- Acanthosis Nigricans Muscle Cramps Acral Enlargement
- Acardia
- Acardiac twinning
- Acardius acephalus
- ACAT2
- ACAT2, Acetocoenzyme A acetyltransferase 2
- Acatalasemia
- Accelerated tumor formation, susceptibility to
- Accessory Deep Peroneal Nerve
- Accessory navicular bone
- Accessory Pancreas
- ACDC
- Aceruloplasminemia
- Acetoacetyl CoA thiolase
- Acetocoenzyme A acetyltransferase 2
- Acetyl CoA Acetyltransferase 2 Deficiency
- Acetyl-Carnitine Deficiency
- Acetyl-CoA: carboxylase deficiency
- Acetylation, slow
- ACH
- Achalasia
- Achalasia Microcephaly Syndrome
- Achalasia, Familial Esophageal
- Achalasia-Addisonianism-Alacrimia syndrome
- Acheiropodia
- Acheiropody
- Achondrogenesis
- Achondrogenesis Kozlowski Type
- Achondrogenesis Type 1A
- Achondrogenesis Type 1B
- Achondrogenesis Type 2
- Achondroplasia
- Achondroplasia and Severe Combined Immunodeficiency
- Achondroplasia and Swiss Type Agammaglobulinemia
- Achondroplastic dwarfism
- Achromatopsia
- Achromatopsia 2
- Achromatopsia 4
- Achromatopsia Incomplete X-Linked
- Acid maltase deficiency disease
- Acid phosphatase deficiency
- Acid reflux
- Acidemia, Isovaleric
- Acinic cell carcinoma
- ACL injury
- ACLS
- Acne inversa, familial, 2
- Acne inversa, familial, 3
- Acne rosacea
- Acoustic Neuroma
- Acquired Agranulocytosis
- Acquired Angioedema
- Acquired Fructose Intolerance
- Acquired Hemophilia
- Acquired Hypoprothrombinemia
- Acquired Nephrogenic Diabetes Insipidus
- Acquired partial lipodystrophy
- Acquired pure red cell aplasia
- Acquired reactive perforating collagenosis (ARPC)
- Acquired Von Willebrand syndrome
- Acral Lentiginous Melanoma
- Acro Coxo Mesomelic Dysplasia
- Acro-cardio-facial syndrome
- Acrocallosal syndrome
- Acrocallosal Syndrome, Schinzel Type
- Acrocapitofemoral Dysplasia
- Acrocephalopolydactylous Dysplasia
- Acrocephalopolydactyly
- Acrocephalosyndactyly, Type 1
- Acrocephaly Pulmonary Stenosis Mental Retardation
- Acrodentoosteodysplasia
- Acrodermatitis
- Acrodermatitis Enteropathica
- Acrodysostosis
- Acrodysostosis 2, with or without Hormone Resistance
- Acrodysplasia Scoliosis
- Acrodysplasia with Ossification Abnormalities, Short Stature and Fibular Hypoplasia
- Acroerythrokeratoderma
- Acrofacial Dysostosis
- Acrofacial Dysostosis Ambiguous Genitalia
- Acrofacial Dysostosis Atypical Postaxial
- Acrofacial Dysostosis Catania Type
- Acrofacial Dysostosis Palagonia Type
- Acrofacial Dysostosis Preis Type
- Acrofacial Dysostosis Rodriguez Type
- Acrofrontofacionasal Dysostosis Syndrome
- Acrogeria, Gottron Type
- Acrokeratoelastoidosis of Costa
- Acrokeratosis verruciformis of Hopf
- Acromegaloid Changes, Cutis Verticis Gyrata and Corneal Leukoma
- Acromegaloid Facial Appearance Syndrome
- Acromegaloid Features, Overgrowth, Cleft palate and Hernia
- Acromegaly
- Acromelic Frontonasal Dysostosis
- Acromelic frontonasal dysplasia
- Acromesomelic dysplasia
- Acromesomelic Dysplasia Hunter Thompson Type
- Acromesomelic Dysplasia Maroteaux Type
- Acromicric Dysplasia
- Acroosteolysis Dominant Type
- Acroosteolysis with osteoporosis and changes in skull and mandible
- Acropectoral Syndrome
- Acropectorovertebral Dysplasia F Form
- Acrorenal Mandibular Syndrome
- Acrorenal Syndrome Recessive
- Acrospiroma
- ACS
- ACTH Deficiency
- ACTH Resistance
- Actinic Cheilitis
- Actinomycosis
- Activated PI3K-delta syndrome
- Acute alcohol sensitivity
- Acute angle-closure glaucoma
- Acute Biphenotypic Leukemia
- Acute Bronchitis
- Acute Disseminated Encephalomyelitis
- Acute Erythroblastic Leukemia
- Acute Erythroleukemia
- Acute fatty liver of pregnancy
- Acute febrile mucocutaneous lymph node syndrome
- Acute Flaccid Myelitis
- Acute Hemorrhagic Leukoencephalitis
- Acute Idiopathic Polyneuritis
- Acute Inflammatory Demyelinating Polyneuropathy
- Acute Intermittent Porphyria
- Acute kidney failure
- Acute lymphoblastic leukemia
- Acute Lymphoblastic Leukemia Congenital Sporadic Aniridia
- Acute Lymphoblastic Leukemia, Childhood
- Acute lymphocytic leukemia
- Acute Megakaryoblastic Leukemia
- Acute Monoblastic Leukemia
- Acute Mountain Sickness
- Acute Myeloblastic Leukemia Type 1
- Acute Myeloblastic Leukemia with Maturation
- Acute Myeloblastic Leukemia without Maturation
- Acute Myelocytic Leukemia
- Acute Myelogenous Leukemia
- Acute myeloid leukemia
- Acute Myeloid Leukemia, Adult
- Acute Myeloid Leukemia, Childhood
- Acute Myelomonocytic Leukemia
- Acute Necrotizing Ulcerative Gingivitis
- Acute neuronopathic Gaucher's disease
- Acute Non Lymphoblastic Leukemia
- Acute periodontitis
- Acute Promyelocytic Leukemia
- Acute renal failure
- Acute Respiratory Distress Syndrome (ARDS)
- Acute Zonal Occult Outer Retinopathy
- Acyl-CoA dehydrogenase family, member 9, deficiency of
- Acyl-CoA Oxidase Deficiency
- AD centronuclear myopathy
- AD CNM
- Adactylia Unilateral
- Adams Oliver Syndrome
- Adams-Oliver syndrome 2
- ADCY5-related dyskinesia
- Adducted thumb and clubfoot syndrome
- Adducted Thumb Syndrome Recessive Form
- Adducted Thumbs Dundar Type
- Adenine Phosphoribosyltransferase Deficiency
- Adenoameloblastoma
- Adenocarcinoid Tumor
- Adenocarcinoma of the Appendix
- Adenoid cystic carcinoma
- Adenoma of the Adrenal Gland
- Adenomatous polyposis coli
- Adenomyosis
- Adenosarcoma of the Uterus
- Adenosine Deaminase Deficiency
- Adenosine Monophosphate Deaminase 1 Deficiency
- Adenosine triphosphate, elevated, of erythrocytes
- Adenylate kinase deficiency, hemolytic anemia due to
- Adenylosuccinase Deficiency
- Adenylosuccinate lyase deficiency
- Adermatoglyphia
- Adhesive capsulitis
- Adie Syndrome
- Adiposis dolorosa
- ADLD
- Adnexal Spiradenoma/Cylindroma of a Sweat Gland
- ADNFLE
- Adolescent euthyroid goiter
- Adolescent myoclonic epilepsy
- Adolescent nephronophthisis
- Adolescent schizophrenia
- ADP
- Adrenal gland tumor
- Adrenal Hypertension
- Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
- Adrenocortical Carcinoma
- Adrenocortical carcinoma, hereditary
- Adrenoleukodystrophy
- Adrenomyeloneuropathy
- Adrenomyodystrophy
- Adult congenital heart disease
- Adult Growth Hormone Deficiency
- Adult hypophosphatasia
- Adult neuronal ceroid lipofuscinosis
- Adult Onset Angioedema
- Adult onset ataxia with oculomotor apraxia
- Adult onset spinal muscular atrophy
- Adult Opsoclonus Myoclonus Syndrome
- Adult proximal spinal muscular atrophy autosomal dominant
- Adult spinal muscular atrophy
- Adult-onset citrullinemia type II
- Adult-onset vitelliform macular dystrophy
- Advanced Sleep Phase Syndrome, Familial
- AEM
- Aemk paroxysmal ataxia with neuromyotonia, hereditary myokymia with periodic ataxia