| Diseases |
Alias |
|
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
MRD21
|
Mental Retardation, Autosomal Dominant 21
|
|
Autosomal Dominant Non-Syndromic Intellectual Disability 21
|
Autosomal Dominant Intellectual Developmental Disorder 21
|
|
Autosomal Dominant Mental Retardation 21
|
Ctcf-Related Neurodevelopmental Disorder
|
|
Mental Retardation, Autosomal Dominant, Type 21
|
|
|
| Acute Megakaryoblastic Leukemia In Down Syndrome |
|
|
| Beckwith-Wiedemann Syndrome |
|
Wiedemann-Beckwith Syndrome
|
BWS
|
|
Exomphalos-Macroglossia-Gigantism Syndrome
|
Emg Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation
|
Emg Abnormality
|
|
Wbs
|
Exomphalos Macroglossia Gigantism Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation
|
Macroglossia Exomphalos Gigantism
|
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| North American Indian Childhood Cirrhosis |
|
NAIC
|
Hereditary North American Indian Childhood Cirrhosis
|
|
Cirrhosis, North American Indian Childhood Type
|
Cirrhosis, Childhood, North American Indian
|
|
|
| Congenital Mesoblastic Nephroma |
|
Mesoblastic Nephroma
|
Nephroma, Mesoblastic
|
|
|
| Friedreich Ataxia |
|
Friedreich Ataxia 1
|
FRDA
|
|
Friedreich Ataxia With Retained Reflexes
|
Frda1
|
|
Fa
|
Friedreich'S Ataxia
|
|
Hereditary Spinal Ataxia
|
Fa1
|
|
Friedreich'S Tabes
|
Hereditary Spinal Sclerosis
|
|
Spinocerebellar Ataxia, Friedreich
|
Friedreich Spinocerebellar Ataxia
|
|
Friedrich'S Ataxia
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 89 |
|
|
| Nephroma |
|
|
| Mental Retardation, X-Linked 92 |
|
MRX92
|
Intellectual Developmental Disorder, X-Linked 92
|
|
Non-Syndromic X-Linked Intellectual Disability 92
|
X-Linked Mental Retardation 92
|
|
Mental Retardation, X-Linked, Type 92
|
|
|
| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
|
Rett Disorder
|
Rts
|
|
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
|
Rett Syndrome, Atypical
|
Rett'S Disorder
|
|
Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
|
Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
|
Rett'S Syndrome
|
Atypical Rtt
|
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
|
Rett Syndrome Preserved Speech Variant
|
|
Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
PKD3
|
Polycystic Kidney Disease, Adult, Type Iii
|
|
Apkd3
|
Polycystic Kidney Disease 3
|
|
Polycystic Kidney Disease, Type 3
|
Polycystic Kidney Disease 3 Without Polycystic Liver Disease
|
|
Polycystic Kidney Disease 3, Autosomal Dominant
|
|
|
| Silver-Russell Syndrome 1 |
|
Silver-Russell Syndrome
|
Russell-Silver Syndrome
|
|
Silver-Russell Dwarfism
|
Rss
|
|
SRS1
|
Srs
|
|
Silver Russell Dwarfism
|
Russell Silver Syndrome
|
|
Silver Russell Syndrome
|
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Facioscapulohumeral Muscular Dystrophy
|
Fshd
|
|
Landouzy-Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Facioscapulohumeral
|
|
FSHD1
|
Fshd1a
|
|
Muscular Dystrophy, Facioscapulohumeral, Type 1a
|
Facioscapulohumeral Muscular Dystrophy Type 1a
|
|
Fsh Muscular Dystrophy
|
Facioscapulohumeral Muscular Dystrophy 1a
|
|
Facioscapulohumeral Atrophy
|
Facioscapulohumeral Myopathy
|
|
Muscular Dystrophy, Facioscapulohumeral, Type 1
|
Facioscapulohumeral Muscular Dystrophy Type 1
|
|
Landouzy Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Landouzy-Dejerine
|
|
Fshmd1a
|
Facio-Scapulo-Humeral Dystrophy
|
|
Facioscapulohumeral Type Progressive Muscular Dystrophy
|
Facioscapuloperoneal Muscular Dystrophy
|
|
Facioscapulohumeral Dystrophy
|
Fsh Dystrophy
|
|
Landouzy-Dejerine Dystrophy
|
Landouzy-Dejerine Myopathy
|
|
Fmd
|
Facioscapulohumeral Muscular Dystrophy-1a
|
|
Muscular Dystrophy Facioscapulohumeral
|
Dystrophy, Muscular, Facioscapulohumeral
|
|
Dystrophy, Muscular, Facioscapulohumeral, Type 1
|
Landouzy-Dejerine Disease
|
|
Landouzy-Déjerine Atrophy
|
Facioscapulohumeral Muscle Dystrophy
|
|
Fmd - [Facioscapulohumeral Muscular Dystrophy]
|
Fsh - [Facioscapulohumeral Muscular Dystrophy]
|
|
Fshd - [Facioscapulohumeral Muscular Dystrophy]
|
Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
|
|
Landouzy-Déjérine Muscular Dystrophy
|
|
|
| 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
|
|
|
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
PPCD4
|
Posterior Polymorphous Corneal Dystrophy 4
|
|
|
| Hyperoxaluria, Primary, Type I |
|
Primary Hyperoxaluria Type 1
|
HP1
|
|
Glycolic Aciduria
|
Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Hepatic Agt Deficiency
|
Oxalosis I
|
|
Primary Hyperoxaluria, Type I
|
Serine:Pyruvate Aminotransferase Deficiency
|
|
Hyperoxaluria, Primary, Type 1
|
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency
|
Serine Pyruvate Aminotransferase Deficiency
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Oxalosis 1
|
|
Hyperoxaluria Primary 1
|
Hyperoxaluria Primary Type I
|
|
Ph1
|
Primary Hyperoxaluria Type I
|
|
Oxalosis Type 1
|
2-Oxoglutarate Glyoxylate Carboligase Deficiency
|
|
|
| Bladder Cancer |
|
Urinary Bladder Cancer
|
Bladder Carcinoma
|
|
Urinary Bladder Carcinoma
|
Bladder Neoplasm
|
|
Bladder Tumor
|
Cancer, Bladder
|
|
Malignant Neoplasm Of Urinary Bladder
|
Carcinoma Of Bladder
|
|
Bladder Cancer, Somatic
|
Tumor Of The Bladder
|
|
Carcinoma Of Urinary Bladder
|
Bladder Carcinoma Urinary
|
|
Cancer Of The Urinary Bladder
|
Cancer, Urinary Bladder
|
|
Malignant Bladder Neoplasm
|
Malignant Bladder Tumor
|
|
Neoplasm Of The Bladder
|
Neoplasm Of The Urinary Bladder
|
|
Tumor Of The Urinary Bladder
|
Urinary Bladder Neoplasm
|
|
BLC
|
Urothelial Carcinoma Of The Bladder
|
|
Bladder Tumors
|
Urinary Bladder Neoplasms
|
|
Bladder Cancer Nos
|
Vesical Cancer Nos
|
|
Malignant Neoplasm Of Bladder, Part Unspecified
|
Malignant Tumour Of Urinary Bladder
|
|
Primary Malignant Neoplasm Of Bladder
|
|
|
| Endometrial Cancer |
|
Endometrial Carcinoma
|
Endometrial Neoplasm
|
|
Malignant Neoplasm Of Endometrium
|
Endometrioid Carcinoma
|
|
Endometrial Neoplasms
|
Carcinoma, Endometrioid
|
|
Endometrial Cancer, Familial
|
Endometrial Carcinoma, Somatic
|
|
Endometrial Cancer, Susceptibility To
|
Endometrial Ca
|
|
Malignant Endometrial Neoplasm
|
Neoplasm Of Endometrium
|
|
Primary Malignant Neoplasm Of Endometrium
|
Tumor Of Endometrium
|
|
Carcinoma Of The Endometrium
|
Endometrioid Carcinoma Of Female Reproductive System
|
|
ENDMC
|
Carcinoma Endometrioid
|
|
Endometrial Cancers
|
Cancer, Endometrial
|
|
Uterine Corpus Cancer
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Male Breast Cancer
|
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
|
Mammary Cancer
|
Mammary Tumor
|
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
|
Familial Breast Cancer
|
Cancer Of Breast
|
|
BC
|
Breast Cancer Familial
|
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
|
Breast Male Carcinoma
|
Breast Neoplasms
|
|
Breast Neoplasms, Male
|
Mammary Tumors
|
|
Mammary Carcinomas
|
Cancer, Breast
|
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
|
Carcinoma With Apocrine Differentiation
|
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
Icf Syndrome
|
Immunodeficiency Syndrome, Variable
|
|
Ciid
|
Centromeric Instability, Immunodeficiency Syndrome
|
|
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16
|
Icf
|
|
|
| Cartilage-Hair Hypoplasia |
|
Metaphyseal Chondrodysplasia, Mckusick Type
|
CHH
|
|
Mckusick Type Metaphyseal Chondrodysplasia
|
Metaphyseal Dysplasia Without Hypotrichosis
|
|
Cartilage Hair Hypoplasia Like Syndrome
|
Metaphyseal Chondrodysplasia Mckusick Type
|
|
Chhv
|
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
|
|
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency
|
Cartilage-Hair Syndrome
|
|
Mckusick'S Metaphyseal Chondrodysplasia Syndrome
|
Metaphyseal Chondrodysplasia, Recessive Type
|
|
Autosomal Recessive Metaphyseal Chondrodysplasia
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Retinitis Pigmentosa 11 |
|
RP11
|
Retinitis Pigmentosa-11
|
|
Retinitis Pigmentosa, Type 11
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Wilms Tumor 1 |
|
Nephroblastoma
|
Wilms Tumor
|
|
WT1
|
Wilms' Tumor
|
|
Bilateral Wilms Tumor
|
Wilms Tumor, Type 1
|
|
Wilms Tumor, Somatic
|
Adult Nephroblastoma
|
|
Wt1 Disorder
|
Renal Embryonic Tumor
|
|
Adult Kidney Wilms Tumor
|
Childhood Kidney Wilms Tumor
|
|
Nonanaplastic Kidney Wilms Tumor
|
|
|
| Leukemia, Acute Myeloid |
|
Acute Myeloid Leukemia
|
Leukemia, Acute Myelogenous
|
|
Acute Myelogenous Leukemia
|
AML
|
|
Leukemia, Acute Myeloid, Susceptibility To
|
Acute Myeloblastic Leukemia
|
|
Leukemia, Acute Myeloid, Reduced Survival In, Somatic
|
Acute Myeloid Leukaemia
|
|
Leukemia, Myelocytic, Acute
|
Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
|
Secondary Aml
|
Acute Myelocytic Leukemia
|
|
Acute Myeloid Leukemia, Somatic
|
Leukemia, Acute Myeloid, Somatic
|
|
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
|
Acute Myeloblastic Leukaemia
|
|
Acute Myelogenous Leukaemia
|
Aml - Acute Myeloid Leukemia
|
|
Acute Myeloid Leukemia With Cebpa Somatic Mutations
|
Aml With Cebpa Somatic Mutations
|
|
Inherited Acute Myeloid Leukemia
|
Familial Aml
|
|
Inherited Aml
|
Pure Familial Aml
|
|
Pure Familial Acute Myeloid Leukemia
|
Secondary Acute Myeloid Leukemia
|
|
Therapy-Related Aml And Myelodysplastic Syndrome
|
Acute Myeloid Leukemia, Secondary
|
|
Acute Non-Lymphoblastic Leukemia
|
Acute Non-Lymphocytic Leukemia
|
|
Acute Biphenotypic Leukemia
|
Acute Undifferentiated Leukemia
|
|
Acute Myeloblastic Leukaemia With Multilineage Dysplasia
|
Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
|
|
Acute Myeloid Leukaemia With Myelodysplasia-Related Features
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
