Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Alzheimer's disease 7 |
AD7; Alzheimer disease 7; Alzheimer disease, famil..
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An Alzheimer's disease that is characterized by an..[+]
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Alzheimer's disease 8 |
AD8; Alzheimer disease 8; Alzheimer disease, famil..
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An Alzheimer's disease that is characterized by an..[+]
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Alzheimer's disease 9 |
AD9; Alzheimer's disease 9, late onset;
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An Alzheimer's disease that has_material_basis_in ..[+]
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Ambras type hypertrichosis universalis congenita |
Ambras syndrome; HTC1;
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A hypertrichosis characterized by autosomal domina..[+]
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American histoplasmosis |
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A histoplasmosis that results in systemic fungal i..[+]
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Andersen-Tawil syndrome |
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS..
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A long QT syndrome that has_material_basis_in auto..[+]
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6 articles | |
Angelman syndrome |
puppetlike syndrome; happy puppet syndrome;
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A syndrome that is characterized by delayed develo..[+]
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Angelucci's syndrome |
acute atopic conjunctivitis; Angelucci syndrome;
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n_a
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Antley-Bixler syndrome |
Antley and Bixler's syndrome; Antley Bixler syndro..
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A craniosynostosis that is characterized by radioh..[+]
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Antley-Bixler syndrome with disordered steroidogenesis |
trapezoidocephaly-synostosis syndrome;
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An Antley-Bixler syndrome that is characterized at..[+]
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Antley-Bixler syndrome without disordered steroidogenesis |
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An Antley-Bixler syndrome that has_material_basis_..[+]
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Arboleda-Tham syndrome |
autosomal dominant mental retardation 32; ARTHS; a..
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An autosomal dominant intellectual developmental d..[+]
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Arenaviridae infectious disease |
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A viral infectious disease that results_in infecti..[+]
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Argentine hemorrhagic fever |
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A viral infectious disease that is a hemorrhagic f..[+]
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Argyll Robertson pupil |
Argyll Robertson phenomenon or pupil, nonsyphiliti..
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An abnormal pupillary function characterized by a ..[+]
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Armfield syndrome |
Armfield X-linked mental retardation syndrome; men..
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A syndromic X-linked intellectual disability chara..[+]
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Arts syndrome |
ARTS; fatal X-linked ataxia with deafness and loss..
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An X-linked disease that is characterized by profo..[+]
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Askin's tumor |
Askin tumor; Askin tumour; Askin's tumour;
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An Ewing sarcoma that arises from the soft tissues..[+]
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Asperger syndrome |
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An autism spectrum disorder that is characterized ..[+]
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Astrakhan spotted fever |
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A spotted fever that has_material_basis_in Rickett..[+]
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Athabaskan brainstem dysgenesis syndrome |
NAVAJO BRAINSTEM SYNDROME;
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A brain disease that is characterized by brainstem..[+]
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Atlantic cod allergy |
Gadus morhua fish allergy;
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A fish allergy triggered by Gadus morhua.
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Atlantic salmon allergy |
Salmo salar fish allergy;
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A fish allergy triggered by Salmo salar.
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Axenfeld-Rieger syndrome |
Anomaly, Rieger's; RGS - Rieger syndrome; Rieger's..
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An eye disease characterized by abnormalities of t..[+]
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3 articles | |
Axenfeld-Rieger syndrome type 1 |
RIEG1; Rieger syndrome type 1;
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An Axenfeld-Rieger syndrome that has_material_basi..[+]
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2 articles | |
Axenfeld-Rieger syndrome type 2 |
RIEG2; Rieger syndrome type 2;
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An Axenfeld-Rieger syndrome that has_material_basi..[+]
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Axenfeld-Rieger syndrome type 3 |
anterior chamber cleavage syndrome; Axenfeld-Riege..
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An Axenfeld-Rieger syndrome that has_material_basi..[+]
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Ayme-Gripp syndrome |
AYGRP; cataracts, congenital, with sensorineural d..
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A syndrome characterized by congenital cataracts, ..[+]
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B acute lymphoblastic leukemia with DUX4 rearrangement |
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A B lymphoblastic leukemia/lymphoma that is associ..[+]
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B acute lymphoblastic leukemia with PAX5 P80R mutation |
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A B-lymphoblastic leukemia/lymphoma that is associ..[+]
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B cell and dendritic cell deficiency |
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A combined immunodeficiency characterized by impai..[+]
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B cell deficiency |
Immunoglobulin heavy chain deficiency (disorder); ..
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A primary immunnodeficiency disease that is caused..[+]
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1 articles | |
B-cell acute lymphoblastic leukemia |
B acute lymphoblastic leukemia; B-cell acute lymph..
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An acute lymphocytic leukemia characterized by too..[+]
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B-cell adult acute lymphocytic leukemia |
adult B acute lymphoblastic leukemia; adult b-cell..
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An adult acute lymphoblastic leukemia occurring in..[+]
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B-cell lymphoma |
B-cell lymphocytic neoplasm;
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A non-Hodgkin lymphoma that has_material_basis_in ..[+]
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1 articles | |
B-cell prolymphocytic leukemia |
B Cell Prolymphocytic Leukemia; Prolymphocytic leu..
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A prolymphocytic leukemia that is characterized by..[+]
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B-lymphoblastic leukemia/lymphoma |
precursor B lymphoblastic lymphoma/leukemia; B lym..
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A B-cell acute lymphoblastic leukemia that is char..[+]
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B-lymphoblastic leukemia/lymphoma MLL rearranged |
B-ALL KMT2A rearranged; B-lymphoblastic leukemia/l..
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A B-lymphoblastic leukemia/lymphoma that is charac..[+]
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B-lymphoblastic leukemia/lymphoma with BCR-ABL1 |
B-ALL with BCR-ABL1; B-lymphoblastic leukemia/lymp..
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A B-lymphoblastic leukemia/lymphoma that derives_f..[+]
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B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 |
B-ALL with ETV6-RUNX1; B-lymphoblastic leukemia/ly..
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A B-lymphoblastic leukemia/lymphoma that is charac..[+]
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B-lymphoblastic leukemia/lymphoma with IL3-IGH |
B-ALL with IL3-IGH; B-lymphoblastic leukemia/lymph..
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A B-lymphoblastic leukemia/lymphoma that is charac..[+]
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B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 |
B Acute Lymphoblastic Leukemia with t(1;19)(q23;p1..
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A B-lymphoblastic leukemia/lymphoma that is charac..[+]
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B-lymphoblastic leukemia/lymphoma with hyperdiploidy |
B-ALL with hyperdiploidy;
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A B-lymphoblastic leukemia/lymphoma that is compos..[+]
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B-lymphoblastic leukemia/lymphoma with hypodiploidy |
B-ALL with hypodiploidy;
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A B-lymphoblastic leukemia/lymphoma that is compos..[+]
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B-lymphoblastic leukemia/lymphoma with iAMP21 |
B-ALL with iAMP21; Intrachromosomal amplification ..
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A B-lymphoblastic leukemia/lymphoma that is charac..[+]
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B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like |
B-ALL BCR-ABL1–like; B lymphoblastic leukemia/lymp..
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A B-lymphoblastic leukemia/lymphoma that has a gen..[+]
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BASAN syndrome |
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An ectodermal dysplasia that is characterized by n..[+]
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BCOR ITD sarcoma |
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A sarcoma with BCOR genetic alterations that is ch..[+]
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BCOR-CCNB3 sarcoma |
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A sarcoma with BCOR genetic alterations that is ch..[+]
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BH4-deficient hyperphenylalaninemia A |
HPABH4A; hyperphenylalaninemia due to 6-pyruvoylte..
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A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+]
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