| Diseases |
Alias |
|
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Glow Syndrome
|
GLOW
|
|
Glow Syndrome, Somatic Mosaic
|
Global Developmental Delay - Lung Cysts - Overgrowth - Wilms Tumor Syndrome
|
|
Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome
|
|
|
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid Goiter
|
MNG1
|
|
Simple Goiter
|
Goiter Euthyroid
|
|
Goiter, Nontoxic, With Intrathyroidal Calcification
|
Multinodular Goiter, Adolescent
|
|
Familial Multinodular Goiter
|
Fmng
|
|
Familial Mng
|
Familial Multinodular Goiter Syndrome
|
|
Goiter Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
|
Goiter Nontoxic With Intrathyroidal Calcification
|
|
Goiter Non-Toxic With Intrathyroidal Calcification
|
Multinodular Goiter Adolescent
|
|
Goiter, Multinodular, Type 1, With/Without Sertoli-Leydig Cell Tumors
|
Endemic Goiter
|
|
|
| Pleuropulmonary Blastoma |
|
PPB
|
Ppb Familial Tumor And Dysplasia Syndrome
|
|
Ppbftds
|
Pulmonary Blastoma
|
|
Blastoma, Pleuropulmonary
|
Dicer1 Syndrome
|
|
Respiratory Tract Neoplasms
|
|
|
| Rhabdomyosarcoma, Embryonal, 2 |
|
RMSE2
|
Rhabdomyosarcoma, Embryonal, Type 2
|
|
|
| Dicer1 Syndrome |
|
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome
|
Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome
|
|
Ppb Familial Tumor Susceptibility Syndrome
|
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
|
|
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility
|
Dicer1-Related Pleuropulmonary Blastoma
|
|
Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome
|
Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome
|
|
Ppbftds
|
Doid:0081063
|
|
|
| Pineoblastoma |
|
Pineal Pnet
|
Pinealoma
|
|
Pineal Gland Neoplasm
|
Pineocytoma
|
|
Tumor Of The Pineal Region
|
|
|
| Embryonal Rhabdomyosarcoma |
|
Rhabdomyosarcoma, Embryonal
|
Rhabdomyosarcoma Embryonal
|
|
Botryoid Rhabdomyosarcoma
|
Erms
|
|
Spindle Cell Rhabdomyosarcomas
|
|
|
| Rhabdomyosarcoma |
|
|
| 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
|
|
|
| Blastoma |
|
|
| Supratentorial Primitive Neuroectodermal Tumor |
|
Supratentorial Pnet
|
Supratentorial Embryonal Tumor, Not Otherwise Specified
|
|
Ewings Sarcoma-Primitive Neuroectodermal Tumor
|
|
|
| Pulmonary Blastoma |
|
Blastoma Of Lung
|
Pneumoblastoma
|
|
|
| Gynandroblastoma |
|
|
| Malignant Sertoli-Leydig Cell Tumor Of The Ovary |
|
Virilizing Ovarian Tumor
|
Androblastoma
|
|
Arrhenoblastoma
|
Ovarian Sertoli-Leydig Cell Cancer
|
|
Ovarian Malignant Sertoli-Leydig Cell Tumor
|
Sertoli-Leydig Cell Tumor Of Ovary
|
|
Sertoli-Leydig Cell Tumor
|
|
|
| Nephroma |
|
|
| Maligant Granulosa Cell Tumor Of The Ovary |
|
Granulosa Cell Cancer
|
Granulosa Cell Malignant Tumor
|
|
Maligant Granulosa Cell Tumor Of Ovary
|
|
|
| Goiter |
|
|
| Pulmonary Sequestration |
|
|
| Pineal Gland Cancer |
|
Tumor Of The Pineal Region
|
Malignant Pineal Region Tumor
|
|
Malignant Tumor Of Pineal Gland
|
Neoplasm Of Pineal Gland
|
|
Neoplasm Of The Pineal Region
|
Pineal Body Neoplasm
|
|
Pineocytic Tumor
|
Malignant Neoplasm Of Pineal Gland
|
|
Pineal Gland Neoplasm
|
Pineocytoma
|
|
|
| Sertoli-Leydig Cell Tumor |
|
Sertoli-Leydig Cell Tumors
|
Androblastoma Of Ovary
|
|
Arrhenoblastoma
|
Arrhenoblastoma Of Ovary
|
|
Sertoli-Leydig Cell Tumor Of The Ovary
|
Sertoli-Leydig Cell Tumor Of Intermediate Differentiation
|
|
Sertoli-Leydig Cell Tumor Of Ovary
|
|
|
| Adenosarcoma |
|
|
| Central Nervous System Sarcoma |
|
|
| Kidney Cortex Disease |
|
|
| Spinal Cord Sarcoma |
|
Sarcoma Of The Spinal Cord
|
|
|
| Fragile X Syndrome |
|
FXS
|
Martin-Bell Syndrome
|
|
Fraxa Syndrome
|
Marker X Syndrome
|
|
X-Linked Mental Retardation And Macroorchidism
|
Fragile X Mental Retardation Syndrome
|
|
Fra Syndrome
|
Mental Retardation, X-Linked, Associated With Marxq28
|
|
X-Linked Intellectual Disability And Macroorchidism
|
Frax Syndrome
|
|
Symptomatic Form Of Fragile X Syndrome In Female Carriers
|
Fragile-X Syndrome
|
|
Fraxe Syndrome
|
|
|
| Medulloepithelioma |
|
Diktyoma, Malignant
|
Medulloepithelioma, Central Nervous System
|
|
Medulloepithelioma Of The Central Nervous System
|
|
|
| Botryoid Rhabdomyosarcoma |
|
Sarcoma Botryoides
|
Botryoid Sarcoma
|
|
Botryoid-Type Embryonal Rhabdomyosarcoma
|
|
|
| Central Nervous System Primitive Neuroectodermal Neoplasm |
|
|
| Ovarian Sex-Cord Stromal Tumor |
|
Ovarian Sex Cord Tumor With Annular Tubules
|
Ovarian Sex Cord-Stromal Tumor
|
|
Stromal Tumor Of Ovary
|
|
|
| Adult Cystic Nephroma |
|
Multilocular Cystic Nephroma, Mixed Epithelial Stromal Tumour And Renal Epithelial Stromal Tumour
|
|
|
| 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
|
|
|
| Frontal Sinus Cancer |
|
Malignant Neoplasm Of Frontal Sinus
|
Malignant Tumor Of Frontal Sinus
|
|
Malignant Tumor Of The Frontal Sinus
|
Neoplasm Of Frontal Sinus
|
|
|
| Frontal Sinus Squamous Cell Carcinoma |
|
Epidermoid Carcinoma Of The Frontal Sinus
|
|
|
| Pineal Parenchymal Tumor Of Intermediate Differentiation |
|
Pineal Parenchymal Tumour Of Intermediate Differentiation
|
Pineal Parenchymal Tumors Of Intermediate Differentiation
|
|
Pptid
|
|
|
| Kidney Benign Neoplasm |
|
Renal And Ureteral Tumor
|
Benign Kidney Neoplasm
|
|
|
| Kidney Sarcoma |
|
Renal Sarcoma
|
Sarcoma Of Kidney
|
|
|
| Sarcoma |
|
Connective And Soft Tissue Neoplasm
|
Tumor Of Soft Tissue And Skeleton
|
|
Sarcomas
|
Sarcoma - Category
|
|
|
| Malignant Cystic Nephroma |
|
Malignant Multilocular Cystic Nephroma
|
Cystic Partially Differentiated Nephroblastoma
|
|
|
| Sex Cord-Gonadal Stromal Tumor |
|
Sex Cord-Gonadal Stromal Tumour
|
Sex Cord Stromal Tumour
|
|
Sex Cord-Stromal Neoplasm
|
Specialized Gonadal Neoplasm
|
|
Specialized Gonadal Tumor
|
Specialized Gonadal Tumour
|
|
Sex Cord-Gonadal Stromal Tumors
|
Sex Cord-Stromal Tumor
|
|
Malignant Testicular Sex Cord-Stromal Tumor
|
Sex Cord Stromal Tumor Of Testis
|
|
|
| Multinodular Goiter |
|
|
| 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
|
|
|
| Pleural Disease |
|
Pleural Diseases
|
Disorder Of Pleura
|
|
Non-Neoplastic Pleural Disease
|
Pleural Disorders
|
|
Non-Neoplastic Pleural Disorder
|
|
|
| Perlman Syndrome |
|
Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor
|
PRLMNS
|
|
Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism
|
Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor
|
|
Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor
|
Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor
|
|
Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism
|
Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome
|
|
Renal Hamartomas Nephroblastomatosis And Fetal Gigantism
|
Nephroblastoma
|
|
Fetal Macrosomia
|
|
|
| Ciliary Dyskinesia, Primary, 43 |
|
CILD43
|
Primary Ciliary Dyskinesia 43
|
|
Ciliary Dyskinesia, Primary, 43, With Or Without Situs Inversus
|
Primary Ciliary Dyskinesia 43 With Or Without Situs Inversus
|
|
Ciliary Dyskinesia, Primary, 43 With Or Without Situs Inversus
|
|
|
| Pineal Region Choriocarcinoma |
|
|
| Cerebrum Cancer |
|
Cerebral Cancer
|
Neoplasm Of Cerebrum
|
|
Tumor Of Cerebrum
|
Malignant Neoplasm Of Cerebrum
|
|
|
| Supratentorial Cancer |
|
Supratentorial Neoplasms
|
Brain Neoplasm, Supratentorial
|
|
Malignant Supratentorial Tumor
|
Cancer, Supratentorial
|
|
|
| Spontaneous Tension Pneumothorax |
|
|
| Macular Degeneration, Age-Related, 1 |
|
Macular Degeneration
|
Age-Related Macular Degeneration
|
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
|
Age Related Macular Degeneration 1
|
ARMD1
|
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
|
Age Related Maculopathies
|
Age Related Maculopathy
|
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
|
Age-Related Maculopathy
|
Amd
|
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
|
Macular Degeneration, Age-Related, 2
|
|
|
| Skeletal Muscle Cancer |
|
Malignant Tumor Of Skeletal Muscle
|
Skeletal Muscle Neoplasm
|
|
|
| Carney Complex Variant |
|
Carney Complex
|
Carney Syndrome
|
|
Carney Complex, Type 1
|
Lamb Syndrome
|
|
Name Syndrome
|
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome
|
|
Carney Complex - Trismus - Pseudocamptodactyly Syndrome
|
Carney Complex, Type 2
|
|
Car
|
Cnc1
|
|
Carney Myxoma-Endocrine Complex
|
Myxoma - Spotty Pigmentation - Endocrine Overactivity
|
|
Myxoma, Spotty Pigmentation, And Endocrine Overactivity
|
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome
|
|
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome
|
Carney Complex-Trismus-Pseudocamptodactyly Syndrome
|
|
CACOV
|
|
|
| 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
|
|
|
| Neuroblastoma |
|
Nb
|
Neuroblastoma, Susceptibility To
|
|
Neuroblastomas
|
Central Neuroblastoma
|
|
|
| Chromosomal Deletion 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
|
|
|
| Atrial Septal Defect 8 |
|
ASD8
|
Atrial Heart Septal Defect 8
|
|
Septal Defect, Atrial, Type 8
|
|
|
| Cowden Syndrome |
|
Cowden Disease
|
Multiple Hamartoma Syndrome
|
|
Cowden'S Disease
|
Lhermitte-Duclos Disease
|
|
Cd
|
Cs
|
|
Mham
|
Dysplastic Gangliocytoma Of Cerebellum
|
|
Cowden'S Syndrome
|
Hamartoma Syndrome, Multiple
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Leukemia, Chronic Lymphocytic |
|
Chronic Lymphocytic Leukemia
|
B-Cell Chronic Lymphocytic Leukemia
|
|
CLL
|
B-Cell Chronic Lymphoid Leukemia
|
|
Chronic Lymphatic Leukemia
|
Chronic Lymphocytic Leukaemia
|
|
Lymphoplasmacytic Leukemia
|
Small Lymphocytic Lymphoma
|
|
Leukemia, Chronic Lymphatic
|
B-Cell Chronic Lymphocytic Leukaemia
|
|
Chronic Lymphatic Leukaemia
|
Lymphoplasmacytic Leukaemia
|
|
B Cell Chronic Lymphocytic Leukemia
|
Chronic B-Cell Lymphocytic Leukemia
|
|
Leukemia, Lymphocytic, Chronic
|
B-Cll
|
|
Chronic Lymphoid Leukemia
|
Leukemia Lymphocytic Chronic
|
|
Lymphoma Small Lymphocytic
|
Leukemia, Lymphocytic, Chronic, B-Cell
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| 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
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| 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
|
|
|
