疾病名称 |
别名 |
|
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
|
|
|
Orofacial Cleft 11 |
OFC11
|
Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 11
|
Nonsyndromic Cleft Lip With Or Without Cleft Palate 11
|
Non-Syndromic Orofacial Cleft 11
|
Chcl
|
Cleft Lip Congenital Healed
|
Congenital Healed Cleft Lip
|
Non-Syndromic Cleft Lip/Palate 11
|
Non-Syndromic Cleft Lip With Or Without Cleft Palate 11
|
Orofacial Cleft, Type 11
|
Cleft Lip, Congenital Healed
|
|
|
Renal Hypodysplasia/Aplasia 3 |
RHDA3
|
Renal Agenesis, Unilateral
|
Unilateral Renal Agenesis
|
|
|
Colobomatous Microphthalmia |
Anophthalmia-Microphthalmia Syndrome
|
Mac
|
Microphthalmia With Colobomatous Cyst
|
Microphthalmia-Anophthalmia-Coloboma Syndrome
|
Microphthalmia-Anophthalmia-Coloboma
|
Microphthalmia And Mental Deficiency
|
|
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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
|
|
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Cleft Lip/Palate |
Cleft Lip And Palate
|
Alveolar Cleft Lip And Palate
|
Cleft Lip-Alveolus-Palate Syndrome
|
Flp
|
|
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Cleft Lip |
Cheiloschisis
|
Labium Leporinum
|
Cleft Lip, Unilateral, Complete
|
Complete Unilateral Cleft Lip
|
Hare Lip
|
Congenital Fissure Of Lip
|
Isolated Cleft Lip
|
Cleft Lip Without Cleft Palate
|
Cleft Lip Without Cleft Palate, Unilateral
|
Isolated Cleft Lip, Unilateral
|
Cleft Lip Without Cleft Palate, Bilateral
|
Isolated Cleft Lip, Bilateral
|
|
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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
|
|
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Embryonal Carcinoma |
Embryonal Neoplasm
|
Embryonal Cancer
|
Primary Extragonadal Embryonal Carcinoma
|
Embryo Neoplasm
|
Carcinoma Embryonal
|
Cancer Embryonal
|
Carcinoma, Embryonal
|
Extragonadal Embryonal Carcinoma
|
Cancer, Embryonal
|
|
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Orofacial Cleft |
|
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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
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Fibrodysplasia Ossificans Progressiva
|
|
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Ankylosis |
|
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Short Syndrome |
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay
|
Aarskog-Ose-Pande Syndrome
|
Lipodystrophy, Partial, With Rieger Anomaly And Short Stature
|
Lipodystrophy-Rieger Anomaly-Diabetes Syndrome
|
Rieger Anomaly-Partial Lipodystrophy Syndrome
|
Partial Lipodystrophy With Rieger Anomaly And Short Stature
|
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly And Teething Delay
|
Growth Retardation-Rieger Anomaly
|
Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay
|
SHORTS
|
|
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Bullous Keratopathy |
Bk - [Bullous Keratopathy]
|
|
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Prolactinoma |
Prolactin-Producing Pituitary Gland Adenoma
|
Prolactin-Secreting Pituitary Adenoma
|
Forbes-Albright Syndrome
|
Lactotroph Adenoma
|
Prl-Secreting Pituitary Adenoma
|
Prloma
|
Pituitary Lactotrophic Adenoma
|
Familial Prolactinoma
|
Pituitary Adenoma, Prolactin-Secreting
|
Prolactinoma Of Pituitary Gland
|
PSPA
|
|
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Otosclerosis |
|
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Open-Angle Glaucoma |
Glaucoma Simplex
|
Pigmentary Glaucoma
|
Wide-Angle Glaucoma
|
Glaucoma, Open-Angle
|
Open Angle Glaucoma
|
Glaucoma Open-Angle
|
Chronic Simple Glaucoma
|
Coag - [Chronic Open-Angle Glaucoma]
|
Csg - [Chronic Simple Glaucoma]
|
Poag - [Primary Open-Angle Glaucoma]
|
Oag - [Open-Angle Glaucoma]
|
Chronic Glaucoma
|
Chronic Open Angle Glaucoma
|
Simple Glaucoma
|
Chronic Noncongestive Glaucoma
|
Ltg - [Low Tension Glaucoma]
|
Noncongestive Glaucoma
|
Nonobstructive Glaucoma
|
Normal Pressure Glaucoma
|
Primary Low Tension Glaucoma
|
Low-Tension Glaucoma
|
Residual Stage Low Tension Glaucoma
|
Open Cleft Glaucoma
|
|
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Pulmonary Hypertension |
Primary Pulmonary Hypertension
|
Hypertension Pulmonary
|
Hypertension, Pulmonary
|
Hypertension, Pulmonary, Primary
|
Idiopathic Pulmonary Hypertension
|
Idiopathic Pulmonary Arterial Hypertension
|
Pulmonary Htn - [Hypertension]
|
|
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Cleft Palate, Isolated |
Cleft Palate
|
Isolated Cleft Palate
|
CPI
|
Cp
|
Palatoschisis
|
Cleft Palate Isolated
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
Cleft Of Secondary Palate
|
|
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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
|
|
|
Pilomatrixoma |
Pilomatricoma
|
PTR
|
Epithelioma Calcificans Of Malherbe
|
Benign Pilomatricoma
|
Calcifying Epithelioma Of Malherbe
|
Pilomatricoma, Somatic
|
Benign Pilomatrixoma
|
Malherbe Calcifying Epithelioma
|
|
|
Syngnathia |
Cleft Palate-Lateral Synechia Syndrome
|
Cpls Syndrome
|
Cleft Palate Lateral Synechia Syndrome
|
|
|
Hypospadias |
Hypospadias Familial
|
Familial Hypospadias
|
|
|
Cardiac Arrest |
Cardiopulmonary Arrest
|
Circulatory Arrest
|
Heart Arrest
|
|
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Myositis Ossificans |
Myisitis Ossificans
|
Ossification - Muscle
|
|
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Peters-Plus Syndrome |
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
Anomaly Peters
|
|
|
Osteoporosis |
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
OSTEOP
|
Involutional Osteoporosis
|
Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
Type 1 Osteoporosis
|
|
|
Cloacal Exstrophy |
Oeis Complex
|
Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome
|
Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl
|
Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex
|
Cloacal Exstrophy Sequence
|
Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect
|
Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects
|
Omphalocele Exstrophy Imperforate Anus
|
|
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Hereditary Mixed Polyposis Syndrome |
|
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Germ Cell And Embryonal Cancer |
Germ Cell And Embryonal Neoplasm
|
|
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Strabismus |
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
Strabismus 1
|
|
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Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
Exstrophy-Epispadias Complex
|
Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex
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Beec
|
Eec
|
Exstrophy Of The Bladder
|
Bladder Exstrophy
|
Bladder Exstrophy And Epispadias Complex
|
|
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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
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Familial Prostate Carcinoma
|
Malignant Tumor Of Prostate
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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
|
|
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Cardiomyopathy, Familial Restrictive, 3 |
RCM3
|
Restrictive Cardiomyopathy 3
|
Familial Restrictive Cardiomyopathy 3
|
Cardiomyopathy, Familial Restrictive 3
|
Cardiomyopathy, Restrictive, Familial, Type 3
|
|
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Ossification Of The Posterior Longitudinal Ligament Of Spine |
OPLL
|
Ossification Of The Posterior Longitudinal Ligament Of The Spine
|
Ossification Of Posterior Longitudinal Ligament Of Spine
|
Ossification, Posterior Longitudinal Ligament Spine
|
|
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Syndromic Microphthalmia |
Microphthalmia, Syndromic
|
|
|
Microphthalmia, Syndromic 3 |
MCOPS3
|
Aeg Syndrome
|
Microphthalmia And Esophageal Atresia Syndrome
|
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
|
Anophthalmia-Esophageal-Genital Syndrome
|
Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System
|
Syndromic Microphthalmia 3
|
Sox2 Anophthalmia Syndrome
|
Anophthalmia Clinical With Associated Anomalies
|
Anophthalmia Esophageal Genital Syndrome
|
Anophthalmia Microphthalmia Esophageal Atresia
|
Syndromic Microphthalmia Type 3
|
Sox2-Related Eye Disorders
|
Anophthalmia, Clinical, With Associated Anomalies
|
Syndromic Microphthalmia, Type 3
|
Microphthalmia, Syndromic, 3
|
Anophthalmia/Microphthalmia-Esophageal Atresia
|
Microphthalmia Syndromic, Type 3
|
|
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Juvenile Polyposis Syndrome |
JPS
|
Juvenile Intestinal Polyposis
|
Jip
|
Pji
|
Juvenile Gastrointestinal Polyposis
|
Juvenile Polyposis
|
Polyposis, Juvenile Intestinal
|
Polyposis, Familial, Of Entire Gastrointestinal Tract
|
Polyposis Familial Of Entire Gastrointestinal Tract
|
Polyposis Juvenile Intestinal
|
Polyposis Syndrome, Juvenile
|
|
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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
|
|
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Ulnar-Mammary Syndrome |
Schinzel Syndrome
|
UMS
|
Pallister Ulnar-Mammary Syndrome
|
Ulnar-Mammary Syndrome Of Pallister
|
|
|
Fraser Syndrome 1 |
Fraser Syndrome
|
Cryptophthalmos With Other Malformations
|
Cryptophthalmos Syndrome
|
FRASRS1
|
Cryptophthalmos-Syndactyly Syndrome
|
Fraser-Francois Syndrome
|
Cyclopism
|
Meyer-Schwickerath'S Syndrome
|
Ulrich-Feichtiger Syndrome
|
Cryptophthalmos Syndactyly Syndrome
|
Fraser'S Syndrome
|
Meyer-Schwickerath Syndrome
|
Ullrich-Feichtiger Syndrome
|
|
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Anterior Segment Dysgenesis |
Anterior Segment Developmental Anomaly
|
Anterior Segment Mesenchymal Dysgenesis
|
Corneal Opacification And Other Ocular Anomalies
|
Sclerocornea With Other Ocular Anomalies
|
Asmd
|
Asod
|
Anterior Segment Ocular Dysgenesis
|
Foxe3-Related Ocular Disorder
|
Familial Ocular Anterior Segment Mesenchymal Dysgenesis
|
Dysgenesis, Anterior Segment
|
Irido-Corneal Dysgenesis
|
Axenfeld-Rieger Syndrome, Type 3
|
|
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Colorectal Cancer |
Colon Cancer
|
Colorectal Carcinoma
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
Carcinoma Of Colon
|
CRC
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
Colorectal Carcinomas
|
Colon Cancers
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
Malignant Tumor Of Colon
|
|
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Germ Cell Cancer |
Malignant Germ Cell Tumor
|
Neoplasms, Germ Cell And Embryonal
|
Germ Cell Neoplasm
|
Germ Cell Tumour
|
Malignant Tumor Of The Germ Cell
|
Neoplasms Germ Cell
|
Malignant Germ Cell Neoplasm
|
|
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Rhabdomyosarcoma |
|
|
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
|
|
|
Tooth Agenesis |
Oligodontia
|
Hypodontia
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
Familial Tooth Agenesis
|
Anodontia
|
Congenital Absence Of One Tooth
|
|
|
Papillorenal Syndrome |
Renal Coloboma Syndrome
|
Coloboma Of Optic Nerve With Renal Disease
|
Renal-Coloboma Syndrome
|
Optic Nerve Coloboma With Renal Disease
|
Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies
|
Renal-Coloboma Syndrome With Macular Abnormalities
|
Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities
|
Cakut With Or Without Ocular Abnormalities
|
PAPRS
|
Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies
|
Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease
|
Coloboma-Ureteral-Renal Syndrome
|
Oncr
|
Optic Nerve Coloboma Renal Syndrome
|
Rcs
|
Papillo-Renal Syndrome
|
Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
|
|
|
Chromosome 10q23 Deletion Syndrome |
|
|
Heart Septal Defect |
Septal Defect
|
Heart Septal Defects
|
Cardiac Septal Defects
|
Congenital Septal Defect Of Heart
|
|
|
Spinal Cord Lipoma |
|
|
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
|
|
|
Van Der Woude Syndrome |
Lip-Pit Syndrome
|
Vws
|
Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip
|
Vdws
|
Lps
|
Lip Pit Syndrome
|
Cleft Lip/Palate With Mucous Cysts Of Lower Lip
|
Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
|
|
|
Congenital Anomalies Of Kidney And Urinary Tract 2 |
CAKUT2
|
Ureteropelvic Junction Obstruction
|
Multicystic Renal Dysplasia, Bilateral
|
Pelviureteric Junction Obstruction
|
Pujo
|
Hydronephrosis Due To Pujo
|
Upjo
|
Mcrd
|
Congenital Anomalies Of The Kidney And Urinary Tract 2
|
Mrd
|
Pelvi-Ureteric Junction Obstruction
|
Kidney And Urinary Tract, Anomalies, Congenital, Type 2
|
Obstruction Of Pelviureteric Junction
|
|
|
Renal Hypodysplasia/Aplasia 1 |
Renal Agenesis
|
Renal Adysplasia
|
Renal Aplasia
|
RHDA1
|
Hereditary Renal Aplasia
|
Hra
|
Hereditary Urogenital Adysplasia
|
Hypodysplasia/Aplasia, Renal, Type 1
|
Congenital Absence Of Kidneys Syndrome
|
Congenital Absence Of Kidney
|
Aplastic Kidney
|
|
|
Scoliosis |
|
|
Chronic Pulmonary Heart Disease |
|
|
Bone Disease |
Bone Diseases
|
Skeletal Disease
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
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
|
|
|
Intraocular Pressure Quantitative Trait Locus |
Glaucoma
|
IOPQTL
|
Glaucoma, Susceptibility To
|
Postinfectious Glaucoma
|
Glaucoma With Ocular Inflammation
|
Glaucoma Secondary To Eye Inflammation
|
Traumatic Glaucoma
|
Glaucoma With Concussion Of Globe
|
Glaucoma Due To Ocular Trauma
|
Glaucoma Associated With Ocular Trauma
|
Glaucoma Secondary To Drugs
|
|
|
Pheochromocytoma |
Pheochromocytoma, Susceptibility To
|
Phaeochromocytoma
|
Adrenal Gland Chromaffin Paraganglioma
|
Adrenal Gland Chromaffinoma
|
Adrenal Gland Paraganglioma
|
Adrenal Gland Pheochromocytoma
|
Chromaffin Paraganglioma Of The Adrenal Gland
|
Intraadrenal Paraganglioma
|
PCC
|
Chromaffin Cell Tumor
|
Medullary Chromaffinoma
|
Medullary Paraganglioma
|
Pheochromoblastoma
|
Pheochromocytomas
|
Chromaffin Cell Neoplasm
|
Pheochromocytoma, Malignant
|
|
|
Physical 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
|
|
|
Axenfeld-Rieger Syndrome |
Axenfeld Syndrome
|
Rieger Syndrome
|
Rieger Anomaly
|
Axenfeld Anomaly
|
Anomaly, Rieger'S
|
Hagedoom Syndrome
|
Rgs - Rieger Syndrome
|
Rieger'S Anomaly
|
Goniodysgenesis Hypodontia
|
Iridogoniodysgenesis With Somatic Anomalies
|
Ars
|
Axenfeld And Rieger Anomaly
|
Axra
|
Axrs
|
Rieger Eye Malformation Sequence
|
|
|
Anus, Imperforate |
Imperforate Anus
|
Anorectal Malformation
|
Anal Atresia
|
Anorectal Malformations
|
Congenital Atresia Of Anus
|
Congenital Or Infantile Occlusion Of Anus
|
Anal Stenosis
|
Arm
|
|
|
Donnai-Barrow Syndrome |
Faciooculoacousticorenal Syndrome
|
Dbs/Foar Syndrome
|
Foar Syndrome
|
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
|
Facio-Oculo-Acoustico-Renal Syndrome
|
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome
|
Holmes-Schepens Syndrome
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness
|
DBS
|
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria
|
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
|
Donnai Barrow Syndrome
|
|
|
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
|
|
|
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
Hypohidrotic Ectodermal Dysplasia
|
Hed
|
Anhidrotic Ectodermal Dysplasia
|
Ectodermal Dysplasia, Hypohidrotic
|
Eda
|
Christ-Siemens-Touraine Syndrome
|
ECTD10B
|
Ectodermal Dysplasia Anhidrotic
|
Ectodermal Dysplasia, Anhidrotic
|
Cst Syndrome
|
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive
|
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
|
Dysplasia, Ectodermal, Hypohidrotic
|
Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
|
Ectodermal Dysplasia 3, Anhidrotic
|
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
|
|
|
Agnathia-Otocephaly Complex |
Otocephaly
|
Holoprosencephaly-Agnathia
|
Dysgnathia Complex Agnathia-Holoprosencephaly
|
AGOTC
|
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
|
Dysgnathia Complex
|
Agnathia-Holoprosencephaly
|
Cervical Auricle
|
|
|
Synostosis |
|
|
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
Christ-Siemens-Touraine Syndrome
|
XHED
|
Ectodermal Dysplasia 1
|
Xlhed
|
Ed1
|
Cst Syndrome
|
Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked
|
Ectd1
|
Ectodermal Dysplasia, Anhidrotic, X-Linked
|
Eda
|
Eda1
|
Hed1
|
Ectodermal Dysplasia 1, Anhidrotic
|
X-Linked Anhidrotic Ectodermal Dysplasia
|
X-Linked Hypohidrotic Ectodermal Dysplasia
|
Hypohidrotic X-Linked Ectodermal Dysplasia
|
Ectodermal Dysplasia, Hypohidrotic, 1
|
Hypohidrotic Ectodermal Dysplasia, X-Linked
|
Anhidrotic Ectodermal Dysplasia X-Linked
|
Hypohidrotic Ectodermal Dysplasia X-Linked
|
Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked
|
Ectodermal Dysplasia Anhidrotic
|
|
|
Cataract |
Cataracts
|
Cat - [Cataract]
|
Cataract Form
|
Lens Opacity
|
Lens Opacities
|
|
|
Sclerocornea |
Isolated Congenital Sclerocornea
|
|
|
Coloboma Of Macula |
Coloboma
|
Congenital Ocular Coloboma
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
Coloboma Of Eye
|
Macular Coloboma
|
Uveoretinal Coloboma
|
|
|
Cakut |
Renal Or Urinary Tract Malformation
|
Congenital Anomalies Of Kidney And Urinary Tract
|
Congenital Anomaly Of Kidney And Urinary Tract
|
Congenital Anomalies Of The Kidney And Urinary Tract
|
Kidney And Urinary Tract, Anomalies, Congenital
|
Renal Hypodysplasia, Nonsyndromic, 1
|
|
|
Jackson-Weiss Syndrome |
JWS
|
Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities
|
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome
|
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
|
|
|
Branchiooculofacial Syndrome |
Branchio-Oculo-Facial Syndrome
|
BOFS
|
Bof Syndrome
|
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
|
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
|
Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
|
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging
|
Bofs Syndrome
|
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
|
|
|
Osteogenic Sarcoma |
Osteosarcoma
|
OSRC
|
Osteosarcoma, Somatic
|
Neoplasms, Bone Tissue
|
Bone Tissue Neoplasm
|
Osteoid Sarcoma
|
Skeletal Sarcoma
|
Osteosarcoma Of Bone
|
Bone Sarcoma
|
|
|
Branchiootorenal Syndrome |
Branchio-Oto-Renal Syndrome
|
Bor Syndrome
|
Branchiootorenal Dysplasia
|
Melnick-Fraser Syndrome
|
Branchiootorenal Spectrum Disorders
|
Branchio-Otorenal Dysplasia
|
Branchio Oto Renal Syndrome
|
Branchiootorenal/Branchiootic Syndrome
|
Bo Syndrome
|
Bor
|
Bos
|
Branchio-Otorenal Syndrome
|
Branchiootic Syndrome
|
Branchiootorenal Syndrome
|
Branchiootic Syndrome 1
|
|
|
Lacrimoauriculodentodigital Syndrome |
Ladd Syndrome
|
Levy-Hollister Syndrome
|
Lacrimo-Auriculo-Dento-Digital Syndrome
|
LADD
|
Lacrimoauriculodento-Digital Syndrome
|
Levy Hollister Syndrome
|
Lard Syndrome
|
Lacrimoauriculoradiodental Syndrome
|
LADDS
|
Congenital Duodenal Obstruction Due To Malrotation Of Intestine
|
|
|
Bone Development Disease |
|
|
Cleidocranial Dysplasia |
Cleidocranial Dysostosis
|
CLCD
|
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
|
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
|
CCD
|
Marie-Sainton Disease
|
Dysplasia Cleidocranial
|
Dento-Osseous Dysplasia
|
Marie-Sainton Syndrome
|
Dysplasia, Cleidocranial
|
|
|
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
|
|
|
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
|
|
|
Gastric Cancer |
Stomach Cancer
|
Gastric Carcinoma
|
Stomach Carcinoma
|
Gastric Cancer, Somatic
|
Gastric Neoplasm
|
Carcinoma Of Stomach
|
Stomach Neoplasms
|
Malignant Neoplasm Of Stomach
|
Gastric Cancer Risk After H. Pylori Infection
|
Cancer Of The Stomach
|
Adult Stomach Cancer
|
Adult Stomach Carcinoma
|
GASC
|
Gastric Cancer Intestinal
|
Gastric Cancers
|
Gastric Carcinomas
|
Cancer, Gastric
|
Stomach Neoplasm
|
Malignant Neoplasm Of Body Of Stomach
|
Malignant Tumor Of Lesser Curve Of Stomach
|
Gastrocarcinoma Of Unspecified Site
|
Leather Bottle Stomach
|
Carcinoma Of Fundus Of Stomach
|
Cancer Of Fundus Of Stomach
|
Primary Malignant Neoplasm Of Body Of Stomach
|
Cancer Of Body Of Stomach
|
Primary Malignant Neoplasm Of Pyloric Antrum
|
Pyloric Antrum Cancer
|
Malignant Tumour Of Stomach
|
|
|
Vesicoureteral Reflux |
|
|
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
|
|
|
Esophageal Atresia |
Tracheoesophageal Fistula
|
Congenital Atresia Of Esophagus
|
Congenital Imperforate Esophagus
|
Imperforate Esophagus
|
Oesophageal Atresia
|
Te Fistula
|
Tef
|
Tracheoesophageal Fistula With Or Without Esophageal Atresia
|
|
|
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
|
|
|
Aniridia 1 |
Aniridia
|
Congenital Aniridia
|
AN1
|
An
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
Absent Iris
|
Irideremia
|
Aniridia Ii, Formerly
|
An2, Formerly
|
An2
|
Aniridia Type Ii
|
Aniridia, Type 1
|
An-1
|
Absence Of Iris
|
Agenesis Of Iris
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
Sporadic Aniridia
|
|
|
Chromosome 2q35 Duplication Syndrome |
Syndactyly
|
Syndactyly Type 1
|
Sdty1
|
Zygodactyly
|
Syndactyly, Type I
|
Sd1
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
Non-Syndromic Syndactyly
|
Symphalangy
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
Craniosynostosis |
Premature Closure Of Cranial Sutures
|
Craniostenosis
|
Craniosynostosis Syndrome
|
Cso
|
Craniosynostoses
|
Congenital Ossification Of Cranial Sutures
|
Congenital Ossification Of Sutures Of Skull
|
Craniostosis
|
Imperfect Fusion Of Skull
|
Congenital Imperfect Closure Skull
|
Imperfect Closure Skull
|
Premature Closure Cranium Sutures
|
Deficiency Of Craniofacial Axis
|
|
|
Diaphragmatic Hernia, Congenital |
Congenital Diaphragmatic Hernia
|
Diaphragmatic Hernia
|
Cdh
|
Congenital Diaphragmatic Defect
|
Hernia, Diaphragmatic
|
Dih
|
Hernia, Congenital Diaphragmatic
|
Hcd
|
Diaphragmatic Defect, Congenital
|
Diaphragm, Unilateral Agenesis Of
|
Hemidiaphragm, Agenesis Of
|
Diaphragmatic Hernia 1
|
Agenesis Of Hemidiaphragm
|
Unilateral Agenesis Of Diaphragm
|
Hernia Diaphragmatic
|
Hernia Diaphragmatic Congenital
|
Hernia, Diaphragmatic, Type 1
|
Hiatus Hernia
|
Oesophageal Hiatus Hernia
|
Paraoesophageal Hernia
|
Sliding Hiatus Hernia
|
Congenital Diaphragm Hernia
|
Congenital Diaphragm Defect With Hernia
|
Gross Congenital Diaphragm Defect
|
|
|
Diabetes Mellitus |
|
|
Osteochondrodysplasia |
Skeletal Dysplasia
|
Chondrodystrophy
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
Brittle Bone Disorder |
Osteogenesis Imperfecta
|
Brittle Bone Disease
|
Fragilitas Ossium
|
Osteopsathyrosis
|
Lobstein Disease
|
Oi
|
Vrolik Disease
|
Lobstein'S Disease
|
Lobstein'S Syndrome
|
Vrolik'S Disease
|
Porak And Durante Disease
|
Glass Bone Disease
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
Osteogenesis Imperfecta, Recessive Perinatal Lethal
|
Brittle Bone Syndrome
|
Oi - [Osteogenesis Imperfecta]
|
Ossium Fragility
|
Osteitis Fragilitans
|
Bony Fragility
|
Blue Sclera With Fragility Of Bone And Deafness
|
White Blue Sclera - Fragility Of Bone - Deafness
|
|
|
Hirschsprung Disease 1 |
Hirschsprung Disease
|
Aganglionic Megacolon
|
Hscr
|
Hirschsprung'S Disease
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
Mgc
|
Pelvirectal Achalasia
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
Macrocolon
|
Hscr 1
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
Hirschsprung Megacolon
|
|
|
Tetralogy Of Fallot |
TOF
|
Fallot Tetralogy
|
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
Tetrad Of Fallot
|
Fallot Tetrad
|
Fallot Disease
|
Fallot Complex
|
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
|
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
|
Interventricular Septal Defect, In Tetralogy Of Fallot
|
Ventricular Septal Defect With Obstructed Right Ventricular Outflow
|
Tof - [Tetralogy Of Fallot]
|
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
|
Pulmonary Atresia, Ventricular Septal Defect And Mapcas
|
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
|
|
|
Rasopathy |
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
Eye Disease |
Eye Diseases
|
Abnormality Of The Eye
|
Toxoplasma Oculopathy
|
|
|
Nervous System Disease |
Abnormality Of The Nervous System
|
Nervous System Diseases
|
Nervous System Disorder
|
|
|
Fundus Dystrophy |
Retinal Dystrophy
|
Retinal Dystrophies
|
Dystrophy, Retinal
|
|
|
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
|
|
|