| Diseases |
Alias |
|
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Dias-Logan Syndrome
|
Intellectual Developmental Disorder With Hereditary Persistence Of Fetal Hemoglobin
|
|
IDPFH
|
|
|
| Hereditary Persistence Of Fetal Hemoglobin-Intellectual Disability Syndrome |
|
|
| Corpus Callosum, Agenesis Of |
|
Corpus Callosum Agenesis
|
Agenesis Of The Corpus Callosum
|
|
Isolated Corpus Callosum Agenesis
|
Acc
|
|
Non Rare In Europe: Isolated Corpus Callosum Agenesis
|
Congenital Malformation Of Corpus Callosum
|
|
Deformity Of Corpus Callosum
|
Absence Of Corpus Callosum
|
|
Absent Corpus Callosum
|
Acc - [Agenesis Of Corpus Callosum]
|
|
Aplasia Of Corpus Callosum
|
Congenital Absence Of Corpus Callosum
|
|
Hypoplastic Corpus Callosum
|
Hypoplasia Of Corpus Callosum
|
|
|
| Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag |
|
Da Silva Syndrome
|
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
|
|
|
| Polydactyly, Postaxial, Type A1 |
|
Postaxial Polydactyly Type A
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
PAPA1
|
|
Postaxial Polydactyly, Type A
|
Papa
|
|
Polydactyly, Postaxial, Types A1 And B
|
Postaxial Polydactyly Type B
|
|
Polydactyly Postaxial
|
Polydactyly, Postaxial A1
|
|
Polydactyly, Postaxial B
|
PAPB
|
|
Postaxial Polydactyly, Type A1/B
|
Polydactyly, Postaxial, Type A
|
|
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
|
Postaxial Polydactyly, Type B
|
|
|
| Fetal Hemoglobin Quantitative Trait Locus 5 |
|
Fetal Hemoglobin Qtl5
|
HBFQTL5
|
|
|
| Bcl11a-Related Intellectual Disability |
|
Dias-Logan Syndrome
|
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
|
|
|
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hpfh-Sickle Cell Disease Syndrome
|
|
|
| B-Cell Lymphoma |
|
Lymphoma, B-Cell
|
B-Cell Lymphomas
|
|
B-Cell Lymphocytic Neoplasm
|
Lymphoma B-Cell
|
|
B-Cell Lymphoma Nos
|
|
|
| Lymphoma |
|
Lymphoid Cancer
|
Lymphomas
|
|
Lymphoid Cancers
|
Lymphoid Neoplasm
|
|
Lymphoma Nos
|
Nhl - [Non-Hodgkin Lymphoma]
|
|
Non-Hodgkin Lymphoma
|
Non-Hodgkin Lymphoma, Nos
|
|
Non-Hodgkin Malignant Lymphoma Nos
|
|
|
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
|
| Sickle Cell Anemia |
|
Hemoglobin Sc Disease
|
Anemia, Sickle Cell
|
|
Hbsc Disease
|
Sickle Cell-Hemoglobin C Disease Syndrome
|
|
Hb Ss Disease
|
Sickle Cell Trait
|
|
Drepanocytosis
|
Haemoglobin Sc Disease
|
|
Hb Sc Disease
|
Hb-S/Hb-C Disease
|
|
Hb-Ss Disease Without Crisis
|
Hemoglobin S Disease Without Crisis
|
|
Sickle Cell Anaemia
|
Sickle-Cell/Hb-C Disease Without Crisis
|
|
Sickle Cell - Hemoglobin C Disease
|
Hbs Disease
|
|
Hemoglobin S Disease
|
Sickling Disorder Due To Hemoglobin S
|
|
SKCA
|
Sickle Cell Disease
|
|
Sickle Cell-Hemoglobin C Disease
|
Sickle-Cell Disease Carrier
|
|
Sickle-Cell Heterozygous Disorder
|
Haemoglobin A-S Genotype
|
|
Hb-S - [Sickle Cell Haemoglobin] Carrier
|
Sickle Cell Haemoglobin Trait
|
|
As - [Sickle Cell Trait]
|
Hbas - [Sickle Cell Haemoglobin Trait]
|
|
Sickle-Cell Trait Haemoglobin Disease
|
Haemoglobin Sickle Cell Trait Disorder
|
|
Heterozygous Sickle Cell Trait
|
Hbas - [Heterozygous Haemoglobin S]
|
|
|
| Leukemia |
|
Leukemias
|
Leukaemia, Unspecified, Without Mention Of Remission
|
|
Aleukemic Leukaemia
|
Chronic Leukaemia
|
|
Subacute Leukaemia
|
Leukaemia Disorder
|
|
Leukaemia Nos
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Thalassemia |
|
Sickle-Cell Thalassemia With Crisis
|
Sickle-Cell Thalassemia Without Crisis
|
|
Thalassemia Hb-S Disease With Crisis
|
Thalassemia Hb-S Disease Without Crisis
|
|
Thalassemias
|
Hereditary Leptocytosis
|
|
Haemoglobin Thalassaemia Disorder
|
Thalassaemia Syndrome
|
|
Thalassaemia Nos
|
Thalassemia Variants
|
|
|
| Beta-Thalassemia |
|
Beta Thalassemia
|
Cooley'S Anemia
|
|
Mediterranean Anemia
|
Beta Thalassemia Intermedia
|
|
Erythroblastic Anemia
|
Thalassemia, Hispanic Gamma-Delta-Beta
|
|
Thalassemia Major
|
Thalassemia Minor
|
|
Beta-Plus-Thalassemia
|
Thalassemia, Beta
|
|
Beta Thalassemia Major
|
Beta Thalassemia Minor
|
|
Thalassemias, Beta-
|
Microcytemia, Beta Type
|
|
Thalassemia, Beta Type
|
B-THAL
|
|
Mediterranean Anaemia
|
Beta Thalassaemia Syndrome
|
|
Mediterranean Disease
|
Beta Thalassaemia Disease
|
|
|
| Blood Protein Disease |
|
Blood Protein Disorders
|
Blood Protein Disorder
|
|
|
| Chromosome 2p16.1-P15 Deletion Syndrome |
|
2p15p16.1 Microdeletion Syndrome
|
2p15-P16.1 Microdeletion Syndrome
|
|
Del(2)(P15p16.1)
|
Monosomy 2p15p16.1
|
|
Monosomy 2p15-P16.1
|
|
|
| Beta-Thalassemia Major |
|
Cooley'S Anemia
|
Cooley Anemia
|
|
Mediterranean Anemia
|
|
|
| Congenital Hemolytic Anemia |
|
Anemia Hemolytic Congenital
|
Anemia, Hemolytic, Congenital
|
|
Congenital Hemolytic Anaemia
|
Hereditary Hemolytic Anaemia
|
|
Hereditary Hemolytic Anemia
|
|
|
| Peroxisome Biogenesis Disorder 11a |
|
PBD11A
|
Peroxisome Biogenesis Disorder Complementation Group 13
|
|
PBD-CG13
|
Cg13
|
|
Pbd-Cgh
|
Peroxisome Biogenesis Disorder Complementation Group H
|
|
Peroxisome Biogenesis Disorder, Type 11a
|
Peroxisome Biogenesis Disorder, Complementation Group 13
|
|
|
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Hereditary Persistence Of Fetal Hemoglobin
|
Delta-Beta-Thalassemia
|
|
Delta-Beta Thalassemia
|
Delta Beta-Thalassemia
|
|
HBFQTL1
|
Hemoglobin F, Hereditary Persistence Of
|
|
Hpfh
|
Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related
|
|
Hemoglobin, Fetal, Quantitative Trait Locus 1
|
Hereditary Persistence Of Fetal Hemoglobin Thalassemia
|
|
Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]
|
Fetal Haemoglobin
|
|
Persistence Of Fetal Haemoglobin
|
Persistent Haemoglobin F
|
|
|
| Beta-Thalassemia Intermedia |
|
|
| Hemoglobinopathy |
|
|
| Mediastinal Gray Zone Lymphoma |
|
Mediastinal B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma
|
|
|
| Mediastinal Malignant Lymphoma |
|
Lymphoma Of Mediastinum
|
Mediastinal Lymphoma
|
|
|
| Hemoglobin E Disease |
|
Hemoglobin E
|
Hb-E Disease
|
|
|
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
CDAN4
|
Congenital Dyserythropoietic Anemia Type Iv
|
|
Congenital Dyserythropoietic Anemia Type 4
|
Cda Iv
|
|
Cda Due To Klf1 Mutation
|
Cda Type 4
|
|
Cda Type Iv
|
Congenital Dyserythropoietic Anemia Due To Klf1 Mutation
|
|
Cda, Type Iv
|
Dyserythropoietic Anemia, Congenital, Type Iv
|
|
Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation
|
Congenital Dyserythropoietic Anaemia Type 4
|
|
Congenital Dyserythropoietic Anaemia Type Iv
|
Anemia, Congenital Dyserythropoietic, 4
|
|
Anemia, Dyserythropoietic Congenital, Type Iv
|
Anemia, Dyserythropoietic, Congenital, Type Iv
|
|
|
| Acute Chest Syndrome |
|
Acute Chest Syndrome In Sickle Cell Disease
|
|
|
| Hemoglobin C Disease |
|
Hb C Disease
|
Hemoglobin C
|
|
Hb-C Disease
|
|
|
| Priapism |
|
Mentulagra
|
Priapism, Familial Idiopathic
|
|
Familial Idiopathic Priapism
|
Pathologic Erection
|
|
Painful Erection
|
|
|
| Prion Disease |
|
Spongiform Encephalopathy
|
Transmissible Spongiform Encephalopathies
|
|
Prion Diseases
|
Prion Disease Pathway
|
|
Transmissible Spongiform Encephalopathy
|
Prion Induced Disorder
|
|
Prion Protein Disease
|
Inherited Human Transmissible Spongiform Encephalopathies
|
|
Prion Protein Diseases
|
Prion-Associated Disorders
|
|
Prion-Induced Disorders
|
Transmissible Dementias
|
|
Tses
|
Human Prion Disease
|
|
Tse
|
Encephalopathy, Transmissible Spongiform
|
|
Prion Disease, Susceptibility To
|
Spongiform Encephalopathies
|
|
Human Transmissible Spongiform Encephalopathies, Inherited
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Autosomal Dominant Beta Thalassemia |
|
Inclusion Body Beta-Thalassemia
|
|
|
| Penile Disease |
|
|
| Patau Syndrome |
|
Trisomy 13
|
Complete Trisomy 13 Syndrome
|
|
Trisomy 13 Syndrome
|
D1 Trisomy
|
|
Patau'S Syndrome
|
Complete Trisomy 13
|
|
Chromosome 13, Trisomy 13 Complete
|
D Trisomy Syndrome
|
|
Bartholin-Patau Syndrome
|
Chromosome 13 Duplication
|
|
D1 Trisomy Syndrome
|
D>1< Trisomy Syndrome
|
|
Patau
|
Chromosome 13 Trisomy
|
|
Abnormal Autosomes 13
|
|
|
| Granulomatous Disease, Chronic, X-Linked |
|
CGDX
|
Chronic Granulomatous Disease, X-Linked
|
|
X-Linked Chronic Granulomatous Disease
|
Cgd
|
|
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked
|
Cdgx
|
|
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease
|
Chronic Granulomatous Disease Cytochrome B-Negative X-Linked
|
|
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked
|
Granulomatous Disease, Chronic, X-Linked, Variant
|
|
|
| Hemolytic Anemia |
|
Anemia, Hemolytic
|
Anemia Hemolytic
|
|
Anaemia Due To Other Disorders Of Glutathione Metabolism
|
Chronic Non Spherocytic Anaemia
|
|
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia
|
Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
|
|
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia
|
Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
|
|
Favism Anaemia
|
Haemolytic Anaemia Due Tog6pd Deficiency
|
|
Favism
|
Pentose Phosphate Pathway Disorder Anaemia
|
|
Anaemia Due To Pentose Phosphate Pathway Defect
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Hemoglobin H Disease |
|
HBH
|
Hemoglobin H Disease, Nondeletional
|
|
Hemoglobin H Disease, Deletional
|
Alpha-Thalassemia Intermedia
|
|
Haemoglobin H Disease
|
Alpha-Thalassemia, Hemoglobin H Type
|
|
Hemoglobin H Disease, Deletional And Nondeletional
|
Alpha Thalassemia, Haemoglobin H Type
|
|
Alpha Thalassemia, Hemoglobin H Type
|
Haemoglobin H Disease, Deletional
|
|
Hbh Disease
|
Alpha-Thalassemia Hemoglobin H Type
|
|
Hemoglobin H Disease Deletional
|
Hemoglobin H Disease Non-Deletional
|
|
Alpha-Thalassemia
|
Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia
|
|
Alpha Thalassaemia Intermedia
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Deficiency Anemia |
|
Anemia
|
Deficiency Anemias
|
|
Anaemia
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
