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

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