| Diseases |
Alias |
|
| Coffin-Siris Syndrome 4 |
|
CSS4
|
Mrd16
|
|
Mental Retardation, Autosomal Dominant 16
|
Autosomal Dominant Mental Retardation 16
|
|
Coffin-Siris Syndrome, Type 4
|
|
|
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
RTPS2
|
Tumor, Rhabdoid, Predisposition Syndrome, Type 2
|
|
|
| Ovarian Small Cell Carcinoma |
|
Small Cell Carcinoma Of The Ovary
|
Scco
|
|
Small Cell Ovarian Carcinoma
|
|
|
| Smarca4-Deficient Sarcoma Of Thorax |
|
Smarca4-Dts
|
Smarca4-Deficient Thoracic Sarcoma
|
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
Rhabdoid Tumor Predisposition Syndrome
|
Rtps
|
|
Atypical Teratoid/Rhabdoid Tumor
|
Rhabdoid Predisposition Syndrome
|
|
Familial Posterior Fossa Brain Tumor Of Infancy
|
Familial Rhabdoid Tumor
|
|
At/Rt
|
Atypical Teratoid Rhabdoid Tumour
|
|
Atypical Teratoid/Rhabdoid Tumour
|
Rhabdoid Tumor Of The Cns
|
|
Rhabdoid Tumour Of The Cns
|
Familial Posterior Fossa Brain Tumor Syndrome
|
|
Hereditary Swi/Snf Deficiency Syndrome
|
Atrt
|
|
|
| Coffin-Siris Syndrome 1 |
|
Coffin-Siris Syndrome
|
Fifth Digit Syndrome
|
|
Css
|
CSS1
|
|
Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
|
Hhid
|
Dwarfism-Onychodysplasia
|
|
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
|
Autosomal Dominant Mental Retardation 12
|
|
Short Stature-Onychodysplasia.
|
Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
|
|
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
|
Short Stature-Onychodysplasia
|
|
Coffin-Siris Syndrome, Type 1
|
Mental Retardation, Autosomal Dominant, Type 12
|
|
|
| Familial Hypercholesterolemia |
|
Hyperlipoproteinemia Type Iia
|
Familial Hyperbetalipoproteinaemia
|
|
Familial Hypercholesteremia
|
Fredrickson Type Iia Hyperlipoproteinemia
|
|
Fredrickson Type Iia Lipidaemia
|
Hyperbetalipoproteinemia
|
|
Type Ii Hyperlipidemia
|
Familial Hypercholesterolæmia
|
|
Familial Hypercholesterolaemia
|
Fh
|
|
Hypercholesterolemia Familial
|
Hyperlipoproteinemia Type Ii
|
|
Hypercholesterolemia, Familial
|
|
|
| Hypercholesterolemia, Familial, 1 |
|
Hypercholesterolemia
|
FHCL1
|
|
Fhc
|
Fh
|
|
Hyperlipoproteinemia, Type Ii
|
Hyperlipoproteinemia, Type Iia
|
|
Hyper-Low-Density-Lipoproteinemia
|
Hypercholesterolemic Xanthomatosis, Familial
|
|
Ldl Receptor Disorder
|
Hypercholesterolemia, Susceptibility To
|
|
Hypercholesterolemia, Familial, Modifier Of
|
Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of
|
|
Ldl Cholesterol Level Qtl2
|
Hyperlipoproteinemia Type Ii
|
|
Hypercholesterolemia, Familial, Type 1
|
High Cholesterol
|
|
Increased Cholesterol
|
Low-Density-Lipoid-Type Hyperlipoproteinemia
|
|
Pure Hypercholesterolaemia
|
Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia
|
|
Group A Hyperlipidaemia
|
Pure Hypercholesterinaemia
|
|
Cholesterolaemia
|
Essential Cholesterolaemia
|
|
Essential Hypercholesterolaemia
|
Group A Hyperlipemia
|
|
Increased Low Density Lipoprotein
|
Low-Density-Lipoprotein-Type
|
|
Low-Density-Lipoprotein-Type Hyperlipoproteinemia
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Bap1 Tumor Predisposition Syndrome |
|
Bap1-Related Tumor Predisposition Syndrome
|
Common Syndrome
|
|
Bap1 Cancer Syndrome
|
Bap1-Tpds
|
|
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms
|
Tumor Predisposition Syndrome
|
|
Tumor Susceptibility Linked To Germline Bap1 Mutations
|
Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms
|
|
Tumor Predisposition
|
|
|
| Inherited Cancer-Predisposing Syndrome |
|
Hereditary Cancer-Predisposing Syndrome
|
|
|
| Ventricular Septal Defect |
|
Ventricular Septal Defects
|
Interventricular Septal Defect
|
|
Heart Septal Defects, Ventricular
|
Ventricular Septal Abnormality
|
|
Interventricular Septum Defect
|
Ventricular Septum Defect
|
|
Vsd - [Ventricular Septum Defect]
|
Congenital Ventricular Septal Defect
|
|
Single Ventricular Septal Defect
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Interatrial Communication |
|
Asd
|
Atrial Septal Defect
|
|
Interauricular Communication
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Tumor Predisposition Syndrome 2 |
|
TPDS2
|
Mbd4-Associated Neoplasia Syndrome
|
|
Mans
|
Man
|
|
|
| Neuroblastoma |
|
Nb
|
Neuroblastoma, Susceptibility To
|
|
Neuroblastomas
|
Central Neuroblastoma
|
|
|
| Nasal Cavity Cancer |
|
Nasal Cavity Carcinoma
|
Malignant Neoplasm Of Nasal Cavities
|
|
Malignant Tumor Of The Nasal Cavity
|
Cancer Of Nasal Cavity
|
|
Carcinoma Of Nasal Cavity
|
Malignant Neoplasm Of Nasal Cavity
|
|
Neoplasm Of Nasal Cavity
|
|
|
| Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type |
|
Hypercalcemic Type Ovarian Small Cell Carcinoma
|
Small Cell Carcinoma Of The Ovary, Hypercalcemic Type
|
|
Ovarian Small Cell Carcinoma, Hypercalcemic Type
|
|
|
| Retinoblastoma |
|
RB
|
Trilateral Retinoblastoma
|
|
RB1
|
Retinoblastoma, Trilateral
|
|
Neuroblastoma Of Retina
|
Rb - Retinoblastoma
|
|
Eye Cancer, Retinoblastoma
|
Retinal Cancer
|
|
Retinal Tumor
|
Glioma, Retinal
|
|
Non-Hereditary Retinoblastoma
|
Childhood Cancer Retinoblastoma
|
|
Malignant Neoplasm Of Retina
|
Retinal Neoplasms
|
|
|
| Schimke Immunoosseous Dysplasia |
|
Schimke Immuno-Osseous Dysplasia
|
SIOD
|
|
Immunoosseous Dysplasia, Schimke Type
|
Schimke Syndrome
|
|
Immunoosseous Dysplasia Schimke Type
|
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome
|
|
Spondyloepiphyseal Dysplasia Nephrotic Syndrome
|
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
|
|
|
| Large Cell Carcinoma With Rhabdoid Phenotype |
|
Large Cell Lung Carcinoma With Rhabdoid Phenotype
|
|
|
| Thymus Large Cell Carcinoma |
|
Large Cell Carcinoma Of The Thymus
|
Thymic Large Cell Neuroendocrine Carcinoma
|
|
|
| Li-Fraumeni Syndrome |
|
Sarcoma Family Syndrome Of Li And Fraumeni
|
Sbla Syndrome
|
|
LFS
|
Li-Fraumeni Familiar Cancer Susceptibility Syndrome
|
|
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome
|
Lfs1
|
|
Li Fraumeni Syndrome
|
Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
|
|
Lfl
|
Sbla Syndrome Li-Fraumeni-Like Syndrome
|
|
Li-Fraumeni Syndrome 1
|
|
|
| Medulloblastoma |
|
MDB
|
Cpnet
|
|
Localized Primitive Neuroectodermal Tumor
|
Classic Medulloblastoma
|
|
Medulloblastoma Predisposition Syndrome
|
Medulloblastoma, Somatic
|
|
Brain Medulloblastoma
|
Cns Pnet
|
|
Infratentorial Primitive Neuroectodermal Tumor
|
Neuroectodermal Tumors, Primitive
|
|
Medulloblastomas
|
Desmoplastic Medulloblastoma
|
|
Medulloblastoma, With Extensive Nodularity
|
Medulloblastoma Of Unspecified Site
|
|
Medullomyoblastoma Of Unspecified Site
|
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Atr-X Syndrome
|
Atr, Nondeletion Type
|
|
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
|
Atrx Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type
|
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
|
|
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome
|
Xlmr Hypotonic Face Syndrome
|
|
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
|
Alpha Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha Thalassemia/Mental Retardation, X-Linked
|
Alpha-Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
|
X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
|
|
Xlmr-Hypotonic Face Syndrome
|
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
|
|
|
| Choroid Plexus Cancer |
|
Choroid Plexus Carcinoma
|
Choroid Plexus Neoplasms
|
|
Choroid Plexus Neoplasm
|
Tumor Of Choroid Plexus
|
|
Tumor Of The Choroid Plexus
|
Choroid Plexus Tumor
|
|
Choroid Plexus Tumors
|
Anaplastic Choroid Plexus Papilloma
|
|
Choroid Plexus Papilloma Nos
|
Papilloma Of Choroid Plexus
|
|
Plexus Choroideus Papilloma
|
Choroid Plexus Papilloma In Fourth Ventricle
|
|
Plexus Choroideus Papilloma In Fourth Ventricle
|
|
|
| Hypertrichosis |
|
|
| Kidney Rhabdoid Cancer |
|
Rhabdoid Tumor Of The Kidney
|
Kidney Rhabdoid Tumor
|
|
Renal Rhabdoid Tumor
|
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
Autosomal Dominant Mental Retardation
|
Autosomal Dominant Non-Syndromic Mental Retardation
|
|
Autosomal Dominant Non-Syndromic Intellectual Disability
|
Mental Retardation, Autosomal Dominant
|
|
|
| Sinonasal Undifferentiated Carcinoma |
|
Highly Aggressive Undifferentiated Carcinoma Of The Nasal Cavity And Paranasal Sinuses
|
Snuc
|
|
|
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
ATMDS
|
Acquired Hemoglobin H Disease
|
|
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic
|
Acquired Hbh Disease
|
|
Alpha-Thalassemia-Myelodysplastic Syndrome
|
Hemoglobin H Disease, Acquired
|
|
Acquired Alpha-Thalassemia With Myelodysplastic Syndrome
|
Hemoglobin H Disease Acquired
|
|
Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic
|
|
|
| Clark-Baraitser Syndrome |
|
CLABARS
|
Baraitser Syndrome
|
|
Autosomal Dominant Intellectual Disability 49
|
Mental Retardation, Autosomal Dominant 49, Formerly
|
|
Mrd49, Formerly
|
Intellectual Developmental Disorder, Autosomal Dominant 49
|
|
Autosomal Dominant Mental Retardation 49
|
Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
|
|
Mrd49
|
Progeria Short Stature Pigmented Nevi
|
|
|
| Ovarian Clear Cell Carcinoma |
|
Clear-Cell Ovarian Carcinoma
|
|
|
| Mediastinum Sarcoma |
|
|
| Cockayne Syndrome |
|
Cockayne'S Syndrome
|
Dwarfism-Retinal Atrophy-Deafness Syndrome
|
|
Neill-Dingwall Syndrome
|
Progeria-Like Syndrome
|
|
Progeroid Nanism
|
Cs
|
|
|
| Neurilemmomatosis |
|
Schwannomatosis
|
Neurofibromatosis Type 3
|
|
Nf3
|
Neurilemmomatosis Congenital Cutaneous
|
|
Neurinomatosis
|
Congenital Cutaneous Neurilemmomatosis
|
|
Multiple Neurilemmomas
|
Multiple Schwannomas
|
|
Neurilemmomatosis, Congenital Cutaneous
|
Schwannomatosis 1
|
|
Neurofibromatosis 3
|
Mixed Central And Peripheral Neurofibromatosis
|
|
Nf3 - [Neurofibromatosis Type 3]
|
|
|
| Rhabdoid Cancer |
|
Rhabdoid Tumor
|
Malignant Rhabdoid Tumor
|
|
Malignant Rhabdoid Tumour
|
Rhabdoid Sarcoma
|
|
Rhabdoid Tumor Predisposition Syndrome 1
|
Rhabdoid Tumor Predisposition Syndrome 2
|
|
Atypical Teratoid Rhabdoid Tumor
|
Brain Tumor, Posterior Fossa, Of Infancy, Familial
|
|
Atypical Teratoid/Rhabdoid Tumor
|
|
|
| Juvenile Type Testicular Granulosa Cell Tumor |
|
Juvenile Granulosa Cell Tumor
|
Juvenile Granulosa Cell Tumour
|
|
Juvenile Type Granulosa Cell Neoplasm
|
Juvenile Type Granulosa Cell Tumor
|
|
Juvenile Type Granulosa Cell Tumour
|
Juvenile Type Testicular Granulosa Cell Tumour
|
|
|
| Testicular Granulosa Cell Tumor |
|
Granulosa Cell Tumor Of Testis
|
Granulosa Cell Tumour Of Testis
|
|
Testicular Granulosa Cell Tumour
|
|
|
| Floating-Harbor Syndrome |
|
FLHS
|
Fhs
|
|
Pelletier-Leisti Syndrome
|
Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes
|
|
Leisti-Hollander-Rimoin Syndrome
|
|
|
| Paranasal Sinus Cancer |
|
Paranasal Sinus Adenoid Cystic Carcinoma
|
Paranasal Sinus Mucoepidermoid Carcinoma
|
|
Paranasal Sinus Squamous Cell Carcinoma
|
Paranasal Sinus Neoplasms
|
|
Adenoid Cystic Carcinoma Of Accessory Sinus
|
Adenoid Cystic Carcinoma Of Paranasal Sinus
|
|
Epidermoid Carcinoma Of The Paranasal Sinus
|
Mucoepidermoid Carcinoma Of Accessory Sinus
|
|
Paranasal Sinus Adenocarcinoma
|
Squamous Cell Carcinoma Of Paranasal Sinus
|
|
Paranasal Sinus Neoplasm
|
Adenocarcinoma Of Accessory Sinus
|
|
|
| Clear Cell Adenofibroma |
|
|
| Helsmoortel-Van Der Aa Syndrome |
|
HVDAS
|
Mrd28
|
|
Adnp Syndrome
|
Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
|
|
Mental Retardation, Autosomal Dominant 28
|
Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
|
|
Mental Retardation, Autosomal Dominant 28, Formerly
|
Mrd28, Formerly
|
|
Autosomal Dominant Mental Retardation 28
|
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
|
|
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
|
|
|
| Bacteremia 2 |
|
Bacteremia
|
Bacteremia, Susceptibility To, 2
|
|
BACTS2
|
Bacteremia, Susceptibility To
|
|
Bacteremia, Susceptibility To, Type 2
|
|
|
| Oculopharyngeal Muscular Dystrophy |
|
OPMD
|
Muscular Dystrophy, Oculopharyngeal
|
|
Dystrophy, Oculopharyngeal Muscular
|
Oculopharyngeal Dystrophy
|
|
Progressive Muscular Dystrophy, Oculopharyngeal Type
|
Muscular Dystrophy Oculopharyngeal
|
|
Dystrophy, Muscular, Oculopharyngeal
|
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Posterior Pituitary Gland Neoplasm |
|
Posterior Pituitary Tumor
|
Neoplasm Of The Posterior Pituitary
|
|
|
| Lung Cancer |
|
Lung Carcinoma
|
Non-Small Cell Lung Carcinoma
|
|
Lung Cancer, Susceptibility To
|
Lung Cancer, Protection Against
|
|
Adenocarcinoma Of Lung, Somatic
|
Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
|
|
Nonsmall Cell Lung Cancer
|
Lung Neoplasm
|
|
Carcinoma Of Lung
|
Lung Non-Small Cell Carcinoma
|
|
Non-Small Cell Lung Cancer
|
Nsclc
|
|
Lung Neoplasms
|
Malignant Neoplasm Of Lung
|
|
Alveolar Cell Carcinoma
|
Nonsmall Cell Lung Cancer, Somatic
|
|
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In
|
Nonsmall Cell Lung Cancer, Susceptibility To
|
|
Lung Cancer, Somatic
|
Lung Cancer, Resistance To
|
|
Cancer Of Lung
|
Cancer Of Bronchus
|
|
Cancer Of The Lung
|
Lung Malignancies
|
|
Lung Malignant Tumors
|
Malignant Lung Tumor
|
|
Malignant Tumor Of Lung
|
Pulmonary Cancer
|
|
Pulmonary Carcinoma
|
Pulmonary Neoplasms
|
|
Respiratory Carcinoma
|
LNCR
|
|
Adenocarcinoma Of Lung
|
Neoplasm Of Lung
|
|
Cancer Lung
|
Carcinoma Non-Small Cell Lung
|
|
Carcinoma, Non-Small-Cell Lung
|
Lung Cancers
|
|
Lung Carcinomas
|
Cancer, Lung
|
|
Cancer, Lung, Non-Small Cell
|
Primary Malignant Neoplasm Of Lung
|
|
Bronchioloalveolar Adenocarcinoma
|
|
|
| Basan Syndrome |
|
Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities
|
Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease
|
|
Baird Syndrome
|
Absence Of Fingerprints-Congenital Milia Syndrome
|
|
Absence Of Fingerprints Congenital Milia
|
Absence Of Dermatoglyphics Congenital Milia
|
|
Absence Of Dermatoglyphics-Congenital Milia Syndrome
|
Basan-Baird Syndrome
|
|
BSNS
|
Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities
|
|
|
| Adrenal Carcinoma |
|
Adrenal Cancer
|
Adrenal Gland Cancer
|
|
Malignant Neoplasm Of Adrenal Gland
|
Adrenal Gland Neoplasms
|
|
Carcinoma Of The Adrenal Gland
|
Adrenal Neoplasm
|
|
Malignant Adrenal Tumor
|
Neoplasm Of Adrenal Gland
|
|
Tumor Of The Adrenal Gland
|
Adrenal Gland Neoplasm
|
|
Adrenocortical Carcinoma
|
Adrenal Gland Malignancy
|
|
Suprarenal Cancer
|
Malignant Neoplasm Of Suprarenal Gland
|
|
Malignant Neoplasm Of Adrenal Gland, Unspecified
|
Malignant Tumour Of Adrenal Gland
|
|
Suprarenal Gland Cancer
|
Primary Malignant Neoplasm Of Adrenal Gland
|
|
|
| Epithelioid Sarcoma |
|
Epithelioid Cell Sarcoma
|
Sarcoma Epithelioid
|
|
Sarcoma, Epithelioid
|
|
|
| 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
|
|
|
| Epithelioid Malignant Peripheral Nerve Sheath Tumor |
|
Epithelioid Mpnst
|
Malignant Epithelioid Neoplasm Of The Peripheral Nerve Sheath
|
|
|
| Small Cell Carcinoma |
|
Small Cell Carcinoma, Intermediate Cell
|
Intermediate Cell Small Cell Carcinoma
|
|
Small Cell Carcinoma - Intermediate Cell
|
Small Cell Carcinoma Of Lung
|
|
Carcinoma, Small Cell
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Endometrioid Ovary Carcinoma |
|
Endometrioid Carcinoma Of Ovary
|
Endometrioid Carcinoma Ovary
|
|
Ovarian Endometrioid Carcinoma
|
Malignant Ovarian Endometrioid Tumor
|
|
Ovarian Endometrioid Tumor
|
|
|
| Malignant Teratoma |
|
Immature Teratoma
|
Malignant Extragonadal Teratoma
|
|
Primary Malignant Extragonadal Teratoma
|
Teratoma, Malignant, Nos
|
|
Teratoma, Malignant
|
Immature Extragonadal Teratoma
|
|
|
| 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
|
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Cystic Fibrosis |
|
Mucoviscidosis
|
CF
|
|
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis
|
Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
|
|
Cystic Fibrosis Lung Disease, Modifier Of
|
Cystic Fibrosis Of Pancreas
|
|
Fibrocystic Disease Of Pancreas
|
Cf - [Cystic Fibrosis]
|
|
Cystic Fibrosis Nos
|
Fibrocystic Disease
|
|
Fibrocystic Disease Of The Pancreas
|
Mucoviscidosis Of Pancreas
|
|
Nonproliferative Fibrocystic Disease
|
Pancreatic Cystic Fibrosis
|
|
|
| Rhabdomyosarcoma |
|
|
| 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
|
|
|
| Clear Cell Meningioma |
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| 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
|
|
|
| Childhood Medulloblastoma |
|
Medulloblastoma, Childhood
|
Pediatric Medulloblastoma
|
|
Medulloblastoma Childhood
|
|
|
| Ovarian Cancer |
|
Ovarian Carcinoma
|
Ovarian Neoplasm
|
|
Malignant Tumour Of Ovary
|
Cancer Of The Ovary
|
|
Epithelial Ovarian Cancer
|
Neoplasm Of Ovary
|
|
Ovarian Neoplasms
|
Ovarian Cancers
|
|
Malignant Neoplasm Of Ovary
|
Primary Malignant Neoplasm Of Ovary
|
|
Ovarian Cancer, Somatic
|
Malignant Ovarian Tumor
|
|
Ovary Neoplasm
|
Primary Ovarian Cancer
|
|
Tumor Of The Ovary
|
Malignant Neoplasm Of The Ovary
|
|
Malignant Tumor Of The Ovary
|
Ovarian Malignant Tumor
|
|
OC
|
Ovarian Carcinomas
|
|
Cancer, Ovarian
|
Cancer Of Ovary
|
|
Ovary Cancer
|
Ca Ovary
|
|
|
| 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
|
|
|
| Kabuki Syndrome 1 |
|
Kabuki Syndrome
|
Niikawa-Kuroki Syndrome
|
|
Kabuki Make-Up Syndrome
|
Kms
|
|
KABUK1
|
Kabuki Make Up Syndrome
|
|
Nks
|
Kabuki Makeup Syndrome
|
|
Kabuki Syndrome, Type 1
|
|
|
| Cockayne Syndrome B |
|
Cockayne Syndrome Type 2
|
Cockayne Syndrome, Type B
|
|
Cockayne Syndrome Type Ii
|
CSB
|
|
Cockayne Syndrome 2
|
Cockayne Syndrome Type B
|
|
Ckn2
|
Cockayne Syndrome, Type Ii
|
|
|
| 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
|
|
|
| Infratentorial Cancer |
|
Infratentorial Neoplasms
|
Brain Neoplasm, Infratentorial
|
|
Malignant Infratentorial Tumors
|
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
Rubinstein-Taybi Syndrome
|
Broad Thumb-Hallux Syndrome
|
|
Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
|
Rubinstein Syndrome
|
Broad Thumbs-Halluces Syndrome
|
|
Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
|
Rsts Deletion Syndrome
|
Proximal Chromosome 16p13.3 Deletion Syndrome
|
|
16p13.3 Deletion Syndrome
|
Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
|
|
Rts
|
|
|
| Papillary Adenofibroma |
|
|
| Prostate Cancer |
|
Prostate Carcinoma
|
Prostate Cancer, Familial
|
|
Prostate Neoplasm
|
Prostate Cancer, Somatic
|
|
Prostate Cancer, Susceptibility To
|
Prostatic Cancer
|
|
Prostatic Neoplasms
|
Hereditary Prostate Cancer
|
|
Prostatic Neoplasm
|
Cancer Of Prostate
|
|
Carcinoma Of Prostate
|
Familial Prostate Cancer
|
|
Familial Prostate Carcinoma
|
Malignant Tumor Of Prostate
|
|
Malignant Neoplasm Of Prostate
|
Prostate Cancer, Familial, Susceptibility To
|
|
Malignant Tumor Of The Prostate
|
Ngp - New Growth Of Prostate
|
|
Tumor Of The Prostate
|
Prostate Cancer, Hereditary
|
|
Cancer Of The Prostate
|
Malignant Neoplasm Of The Prostate
|
|
Prostatic Carcinoma
|
PC
|
|
Prca
|
Cancer, Prostate
|
|
Malignant Prostatic Tumour
|
Malignant Tumour Of Prostate
|
|
Primary Prostate Cancer
|
Primary Malignant Neoplasm Of Prostate
|
|
Prostate Gland Cancer
|
|
|
| Sarcoma, Synovial |
|
Synovial Sarcoma
|
Synovialosarcoma
|
|
Synovial Cell Sarcoma
|
Sarcoma Synovial
|
|
|
| Developmental And Epileptic Encephalopathy 14 |
|
Malignant Migrating Partial Seizures Of Infancy
|
Eiee14
|
|
Epilepsy Of Infancy With Migrating Focal Seizures
|
Mmpsi
|
|
DEE14
|
Epileptic Encephalopathy, Early Infantile, 14
|
|
Early Infantile Epileptic Encephalopathy 14
|
Malignant Migrating Partial Epilepsy Of Infancy
|
|
Migrating Partial Epilepsy Of Infancy
|
Migrating Partial Seizures Of Infancy
|
|
Mmpei
|
Mpei
|
|
Mpsi
|
Malignant Migrating Focal Seizures Of Infancy
|
|
Migrating Partial Seizures In Infancy
|
Developmental And Epileptic Encephalopathy, 14
|
|
Encephalopathy, Epileptic, Early Infantile, Type 14
|
|
|
| Basal Cell Nevus Syndrome |
|
Nevoid Basal Cell Carcinoma Syndrome
|
Gorlin Syndrome
|
|
Nbccs
|
BCNS
|
|
Gorlin-Goltz Syndrome
|
Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
|
|
Cerebral Gigantism Jaw Cysts
|
Cramer Niederdellmann Syndrome
|
|
Gorlin Syndrome Or Gorlin-Goltz Syndrome
|
Naevoid Basal Cell Carcinoma Syndrome
|
|
|
| Patent Ductus Arteriosus 1 |
|
Patent Ductus Arteriosus
|
PDA1
|
|
Pda
|
Ductus Arteriosus, Patent
|
|
Patent Ductus Arteriosus, Susceptibility To
|
Patent Ductus Botalli
|
|
Patency Of The Ductus Arteriosus
|
Patent Ductus Arteriosus Familial
|
|
Ductus Arteriosus Patent
|
Patent Ductus Arteriosus - Persisting Type
|
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
Hereditary Breast And Ovarian Cancer Syndrome
|
Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
|
|
Breast And/Or Ovarian Cancer
|
Breast And Ovarian Cancer Syndrome
|
|
Hboc Syndrome
|
Hereditary Breast And Ovarian Cancer
|
|
Brca1- Brca2-Associated Hboc
|
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
Thoracic Aortic Aneurysm
|
Annuloaortic Ectasia
|
|
Familial Thoracic Aortic Aneurysm And Aortic Dissection
|
Familial Aortic Dissection
|
|
Familial Taad
|
Familial Thoracic Aortic Aneurysm
|
|
Congenital Aneurysm Of Ascending Aorta
|
Familial Aortic Aneurysm
|
|
Familial Thoracic Aortic Aneurysm And Dissection
|
Aortic Aneurysm, Thoracic
|
|
AAT1
|
Faa1
|
|
Aortic Dissection, Familial
|
Aortic Aneurysm, Familial Thoracic
|
|
Aneurysm, Thoracic Aortic
|
Faa
|
|
Ftaad
|
Taa
|
|
Taad
|
Cystic Medial Necrosis Of Aorta
|
|
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection
|
Aortic Aneurysm Thoracic
|
|
Familial Aortic Aneurysms
|
Aneurysm, Aortic, Thoracic, Familial, Type 1
|
|
Aneurysm Of Thoracic Aorta
|
Intrathoracic Aneurysm
|
|
Thoracic Aorta Aneurysm
|
Thoracic Aortic Aneurysm Without Rupture
|
|
Thoracic Aneurysm
|
Thorax Arterial Aneurysm
|
|
Thoracic Artery Aneurysm
|
Thoracic Arterial Aneurysm
|
|
Thorax Aneurysm
|
Thorax Aortic Aneurysm
|
|
Dissection Of Thoracic Aorta
|
|
|
| Meningioma, Familial |
|
Meningioma
|
Familial Meningioma
|
|
Meningioma, Familial, Susceptibility To
|
Meningeal Neoplasm
|
|
Meningeal Neoplasms
|
Meningiomas
|
|
Meningioma, Nf2-Related, Somatic
|
Meningioma, Sis-Related
|
|
Meningothelial Cell Tumor
|
Neoplasm Of The Meninges
|
|
Primary Meningeal Tumor
|
Familial Multiple Meningioma
|
|
MNGMA
|
Meningioma, Benign, No Icd-O Subtype
|
|
Intracranial Meningioma
|
Meningothelial Cell Neoplasm
|
|
Supratentorial Meningioma
|
Primary Neoplasm Of Spinal Meninges
|
|
Benign Intracranial Meningioma
|
Benign Meningioma
|
|
Meningeal Tumours
|
Meningeal Sarcoma Of Unspecified Site
|
|
Meningothelial Sarcoma Of Unspecified Site
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
