| Diseases |
Alias |
|
| Epicanthus |
|
|
| Brachydactyly, Type E2 |
|
Brachydactyly Type E2
|
BDE2
|
|
Brachydactyly E2
|
|
|
| Proximal Symphalangism |
|
Cushing'S Symphalangism
|
Symphalangism, Proximal
|
|
Hereditary Absence Of Proximal Interphalangeal Joints
|
Strasburger-Hawkins-Eldridge Syndrome
|
|
Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome
|
Symphalangism, Proximal, 1a
|
|
Symphalangism, Proximal, 1b
|
Vessel'S Syndrome
|
|
Symphalangism, Cushing Type
|
|
|
| Diffuse Midline Glioma, H3 K27m-Mutant |
|
Diffuse Intrinsic Pontine Glioma
|
Dipg
|
|
Infiltrative Brainstem Glioma
|
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
Rendu-Osler-Weber Disease
|
Hht
|
|
Osler-Weber-Rendu Disease
|
Telangiectasia, Hereditary Hemorrhagic
|
|
Osler Hemorrhagic Telangiectasia Syndrome
|
Orw Disease
|
|
Osler Weber Rendu Syndrome
|
Osler-Rendu-Weber Disease
|
|
Osler-Weber-Rendu Syndrome
|
Rendu-Osler Disease
|
|
Telangiectasia Hereditary Hemorrhagic
|
Telangiectasia Hemorrhagic, Hereditary
|
|
Hht - [Hereditary Haemorrhagic Telangiectasia]
|
Osler Haemorrhagic Telangiectasia Syndrome
|
|
|
| Hyperostosis |
|
Hypertrophy Of Bone
|
Bone Hypertrophy
|
|
Bone Thickening
|
Periosteum Thickening
|
|
|
| Persistent Mullerian Duct Syndrome |
|
Persistent Müllerian Duct Syndrome
|
Pmds
|
|
Persistent Oviduct Syndrome
|
Persistent Muellerian Duct Syndrome
|
|
Female Genital Ducts In Otherwise Normal Male
|
Hernia Uteri Inguinale
|
|
Persistent Mullerian Duct Syndrome, Types 1 And 2
|
Persistent Mullerian Derivatives
|
|
|
| Brain Stem Cancer |
|
Brain Stem Neoplasms
|
Malignant Neoplasm Of Brain Stem
|
|
Malignant Neoplasm Of Brainstem
|
Neoplasm Of Adult Brain Stem
|
|
Neoplasm Of Brain Stem
|
Primary Brain Stem Neoplasm
|
|
Primary Brain Stem Tumor
|
Brain Stem Neoplasm
|
|
Brain Stem--Cancer
|
Brain Stem Neoplasms, Primary
|
|
|
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Craniometaphyseal Dysplasia
|
CMDD
|
|
Cmdj
|
Cmd
|
|
Autosomal Dominant Craniometaphyseal Dysplasia
|
Craniometaphyseal Dysplasia, Jackson Type
|
|
Craniometaphyseal Dysplasia Jackson Type
|
Autosomal Recessive Craniometaphyseal Dysplasia
|
|
Cmdr
|
Dysplasia, Craniometaphyseal, Autosomal Dominant
|
|
Craniometaphyseal Dysplasia, Autosomal Recessive Type
|
|
|
| Fibrodysplasia Ossificans Progressiva |
|
Myositis Ossificans Progressiva
|
Progressive Myositis Ossificans
|
|
FOP
|
Progressive Ossifying Myositis
|
|
Myositis Ossificans
|
Stone Man Syndrome
|
|
Man Of Stone
|
Myositis Ossificans Progressive
|
|
Diffuse Progressive Ossifying Polymyositis
|
Fibrodysplasia Ossificans Congenita
|
|
Myositis Ossificans Progressiva, Site Unspecified
|
Münchmeyer Disease
|
|
Fop - [Fibrodysplasia Ossificans Progressiva]
|
Progressive Myositis Ossificans Calcification
|
|
|
| Diffuse Idiopathic Skeletal Hyperostosis |
|
Hyperostosis, Diffuse Idiopathic Skeletal
|
Ankylosing Vertebral Hyperostosis
|
|
Dish
|
Disseminated Idiopathic Skeletal Hyperostosis
|
|
Forestier Disease
|
Forestier'S Disease
|
|
Hyperostosis Diffuse Idiopathic Skeletal
|
|
|
| Leber Congenital Amaurosis 17 |
|
LCA17
|
Leber Congenital Amaurosis, Type 17
|
|
|
| Microphthalmia, Syndromic 6 |
|
MCOPS6
|
Microphthalmia And Pituitary Anomalies
|
|
Microphthalmia With Brain And Digit Anomalies
|
Microphthalmia With Brain And Digit Developmental Anomalies
|
|
Syndromic Microphthalmia Type 6
|
Syndromic Microphthalmia 6
|
|
Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia
|
Bakrania-Ragge Syndrome
|
|
Orofacial Cleft 11
|
Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia
|
|
Microphthalmia Syndromic 6
|
Microphthalmia, Syndromic, 6
|
|
Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia
|
Microphthalmia Syndromic, Type 6
|
|
|
| Childhood Brain Stem Glioma |
|
Pediatric Glioma Of The Brainstem
|
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Breast Cancer, Familial
|
|
Malignant Neoplasm Of Breast
|
Male Breast Cancer
|
|
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
|
|
|
| Atrioventricular Septal Defect |
|
AVSD
|
Atrioventricular Canal Defect
|
|
Avcd
|
Endocardial Cushion Defect
|
|
Ecd
|
Avc Defect
|
|
Atrioventricular Septal Defect, Susceptibility To, 1
|
Atrioventricular Septal Defect 1
|
|
Endocardial Cushion Defects
|
Septal Defect, Atrioventricular
|
|
Atrioventricular Defect With Atrial Shunting Only
|
Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
|
|
Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
|
Primum Atrial Septal Defect
|
|
Partial Atrioventricular Canal Defect With Isolated Atrial Component
|
Partial Atrioventricular Septal Defect, Ostium Primum Type
|
|
Ostium Primum Atrial Septal Defect
|
Partial Atrioventricular Canal Defect
|
|
Partial Atrioventricular Septal Defect
|
Atrial Septum Primum Defect
|
|
Atrioventricular Canal Defect With Isolated Ventricular Component
|
Atrioventricular Canal Defect With Isolated Ventricular Communication
|
|
Atrioventricular Septal Defect With Isolated Ventricular Component
|
Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
|
|
Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
|
Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
|
|
Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
|
Intermediate Atrioventricular Canal Defect
|
|
Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
|
Intermediate Atrioventricular Septal Defect
|
|
Transitional Atrioventricular Canal Defect
|
Transitional Atrioventricular Septal Defect
|
|
Complete Atrioventricular Canal With Atrial And Ventricular Components
|
Complete Atrioventricular Canal Defect
|
|
Complete Atrioventricular Septal Defect
|
|
|
| Pseudohypoparathyroidism, Type Ia |
|
Albright'S Hereditary Osteodystrophy
|
Albright Hereditary Osteodystrophy
|
|
Pseudohypoparathyroidism Type 1a
|
PHP1A
|
|
Albright Hereditary Osteodystrophy With Multiple Hormone Resistance
|
Pseudohypoparathyroidism Ia
|
|
AHO
|
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
|
|
Pseudo-Pseudohypoparathyroidism
|
Pseudohypoparathyroidism Type I A
|
|
Php Ia
|
Pseudopseudohypoparathyroidism
|
|
Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance
|
Pphp
|
|
Pseudopseudo-Hypoparathyroidism
|
Aho-Php Syndrome Ia
|
|
Albright Hereditary Osteodystrophy-Php Syndrome Ia
|
Pseudohypoparathyroidism 1a
|
|
Pseudohypoparathyroidism
|
|
|
| Aortic Valve Disease 1 |
|
Aortic Valve Disease
|
Bicuspid Aortic Valve
|
|
Aortic Valve Disorder
|
AOVD1
|
|
Bav
|
Bicuspid Aortic Valve Disease
|
|
Familial Bicuspid Aortic Valve
|
Aortic Valve Calcification
|
|
Aovd
|
Aortic Valve, Bicuspid
|
|
Aortic Valve, Calcification Of
|
Aortic Stenosis, Calcific
|
|
Familial Bav
|
Calcific Aortic Stenosis
|
|
Calcification Of Aortic Valve
|
Abnormality Of The Aortic Valve
|
|
Aortic Valve Disease, Type 1
|
Aortic Valve Disease 2
|
|
Bicommissural Aortic Valve
|
|
|
| Pulmonary Hypertension |
|
Primary Pulmonary Hypertension
|
Hypertension Pulmonary
|
|
Hypertension, Pulmonary
|
Idiopathic Pulmonary Hypertension
|
|
Idiopathic Pulmonary Arterial Hypertension
|
Pulmonary Htn - [Hypertension]
|
|
|
| Heel Spur |
|
|
| Brain Stem Glioma |
|
Brainstem Neuroglial Tumor
|
Brainstem Glioma
|
|
Glioma Of Brainstem
|
|
|
| Chronic Pulmonary Heart Disease |
|
|
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome
|
JPHT
|
|
Jp/Hht Syndrome
|
Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
|
|
Jps/Hht
|
Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
|
|
Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
|
Jp-Hht
|
|
JP/HHT
|
Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome
|
|
|
| Camurati-Engelmann Disease |
|
Progressive Diaphyseal Dysplasia
|
Ced
|
|
Engelmann Disease
|
Diaphyseal Dysplasia 1, Progressive
|
|
Pdd
|
Diaphyseal Dysplasia
|
|
Dpd1
|
Camurati-Engelmann Syndrome
|
|
CAEND
|
Engelman'S Disease
|
|
Diaphyseal Hyperostosis
|
Diaphyseal Osteosclerosis
|
|
|
| Ankylosis |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
Multiple Pterygium Syndrome, Autosomal Dominant
|
CPSFS1A
|
|
Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a
|
Autosomal Dominant Disease
|
|
Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a
|
Cpskf1a
|
|
Pterygium Syndrome, Multiple
|
Autosomal Dominant
|
|
Arthrogryposis, Distal, Type 8, Formerly
|
Da8, Formerly
|
|
Autosomal Dominant Multiple Pterygium Syndrome
|
Distal Arthrogryposis Type 8
|
|
Arthrogryposis, Distal, Type 8
|
Da8
|
|
Pterygium Syndrome, Multiple, Autosomal Dominant
|
Autosomal Dominant Disorder
|
|
|
| Myositis Ossificans |
|
Myisitis Ossificans
|
Ossification - Muscle
|
|
|
| Synostoses, Tarsal, Carpal, And Digital |
|
Calcaneonavicular Coalition
|
Multiple Synostosis Syndrome
|
|
Synostoses, Tarsal, Carpal And Digital
|
|
|
| Histone Mutated Tumor |
|
|
| Joubert Syndrome 21 |
|
JBTS21
|
Joubert Syndrome, Type 21
|
|
|
| Gastric Adenocarcinoma |
|
Adenocarcinoma Of Stomach
|
Stomach Adenocarcinoma
|
|
Adenocarcinoma Gastric
|
Intestinal Type Adenocarcinoma Of Unspecified Site
|
|
Diffuse Type Adenocarcinoma Of Unspecified Site
|
|
|
| Osseous Heteroplasia, Progressive |
|
Progressive Osseous Heteroplasia
|
POH
|
|
Osteoma Cutis
|
Familial Ectopic Ossification
|
|
Ectopic Ossification Familial Type
|
Ectopic Ossification
|
|
Heterotopic Ossification
|
Ectopic Ossification, Familial
|
|
Cutaneous Ossification
|
Myositis Ossificans Progressiva
|
|
Osteodermia
|
Osteosis Cutis
|
|
Ossification Heterotopic
|
Heteroplasia, Osseous, Progressive
|
|
Fibrodysplasia Ossificans Progressiva
|
|
|
| Tarsal-Carpal Coalition Syndrome |
|
TCC
|
Tarsal Carpal Coalition Syndrome
|
|
Nog-Related-Symphalangism Spectrum Disorder
|
|
|
| Brachydactyly, Type A2 |
|
Brachydactyly Type A2
|
BDA2
|
|
Mohr-Wriedt Type Brachydactyly
|
Brachymesophalangy Ii
|
|
Brachymesophalangy Type 2
|
Brachymesophalangy 2
|
|
Brachydactyly, Mohr-Wriedt Type
|
Brachydactyly A2
|
|
|
| Brachydactyly, Type B2 |
|
Brachydactyly Type B2
|
BDB2
|
|
Brachydactyly B2
|
|
|
| Arteriovenous Malformation |
|
Arteriovenous Malformations
|
Arteriovenous Hemangioma
|
|
Cirsoid Aneurysm
|
Racemose Aneurysm
|
|
Racemose Angioma
|
Racemose Hemangioma
|
|
Congenital Arteriovenous Malformation
|
|
|
| Hemochromatosis Type 2 |
|
Juvenile Hemochromatosis
|
Juvenile Hereditary Hemochromatosis
|
|
Hfe2
|
Jhh
|
|
Hemochromatosis Juvenile
|
Iron Overload Disease Juvenile
|
|
Hemochromatosis, Juvenile
|
Hemochromatosis, Type 2
|
|
Hemochromatosis
|
Hemochromatosis, Type 1
|
|
|
| Double Outlet Right Ventricle |
|
Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
|
Taussig-Bing Syndrome
|
|
Dextrotransposition Of Aorta
|
Taussig-Bing Syndrome Or Defect
|
|
Dorv
|
Dorv With Subpulmonary Vsd
|
|
Dorv-Tga
|
Double Outlet Right Ventricle With Transposition Of The Great Arteries
|
|
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type
|
Taussig-Bing Heart
|
|
Taussig-Bing Malformation
|
Taussig-Bing Complex
|
|
Taussig-Bing Defect
|
Taussig-Bing
|
|
Double Outlet Right Ventricle With Remote Ventricular Septal Defect
|
Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
|
|
Double Outlet Right Ventricle With Non-Committed Interventricular Communication
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
|
|
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
|
|
|
