| Diseases |
Alias |
|
| Campomelic Dysplasia |
|
Acampomelic Campomelic Dysplasia
|
Camptomelic Dysplasia
|
|
Campomelic Dysplasia With Autosomal Sex Reversal
|
Cmpd
|
|
CMD1
|
Cmpd1
|
|
Cmpd1/Sra1
|
Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
|
|
Campomelic Dwarfism
|
Campomelic Syndrome
|
|
Dysplasia, Campomelic
|
Chronic Myeloproliferative Disorder
|
|
Familial Dilated Cardiomyopathy
|
|
|
| 46,Xy Sex Reversal 10 |
|
SRXY10
|
Chromosome 17q24 Deletion Syndrome
|
|
46xy Sex Reversal 10
|
|
|
| 46,Xx Sex Reversal 2 |
|
SRXX2
|
Chromosome 17q24 Duplication Syndrome
|
|
46xx Sex Reversal 2
|
Chromosome 17q24 Dupication Syndrome
|
|
46,Xx Sex Reversal Partial Or Complete Sox9-Related
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Pierre Robin Syndrome |
|
Pierre Robin Sequence
|
Glossoptosis, Micrognathia, And Cleft Palate
|
|
Pierre Robin Syndrome Skeletal Dysplasia Polydactyly
|
Pierre-Robin Syndrome
|
|
Isolated Pierre Robin Sequence
|
Isolated Pierre-Robin Syndrome
|
|
PRBNS
|
Robin Sequence
|
|
Robin Syndrome
|
Isolated Pierre Robin Syndrome
|
|
|
| 46,Xy Sex Reversal |
|
Swyer Syndrome
|
Pure Gonadal Dysgenesis 46,Xy
|
|
Gonadal Dysgenesis, Xy Female Type
|
Gonadal Dysgenesis, 46,Xy
|
|
46,Xy Cgd
|
46,Xy Complete Gonadal Dysgenesis
|
|
46,Xy Pure Gonadal Dysgenesis
|
46 Xy Gonadal Dysgenesis
|
|
46, Xy Cgd
|
46, Xy Complete Gonadal Dysgenesis
|
|
46, Xy Pure Gonadal Dysgenesis
|
Xy Pure Gonadal Dysgenesis
|
|
Female With 46,Xy Karyotype
|
Xy Females
|
|
|
| 46,Xy Partial Gonadal Dysgenesis |
|
46,Xy Pgd
|
46,Xy Partial Testicular Dysgenesis
|
|
|
| 46,Xx Sex Reversal 1 |
|
46,Xx Testicular Disorder Of Sex Development
|
46,Xx Gonadal Dysgenesis
|
|
SRXX1
|
46,Xx Gonadal Dysgenesis, Complete, Sry-Positive
|
|
46,Xx Testicular Dsd
|
Xx Male Syndrome
|
|
46,Xx Complete Gonadal Dysgenesis
|
46,Xx Pure Gonadal Dysgenesis
|
|
Follicular Stimulating Hormone-Resistant Ovaries
|
Hypergonadotropic Ovarian Dysgenesis
|
|
Ovotesticular Disorder Of Sex Development
|
46,Xx Sex Reversal, Sry-Positive
|
|
Xx Male, Sry-Positive
|
46xx Sex Reversal 1
|
|
46, Xx Gonadal Sex Reversal
|
Xx Sex Reversal
|
|
46,Xx Ovarian Dysgenesis
|
Fsh-Ro
|
|
Xx Female Gonadal Dysgenesis
|
Xx-Gd
|
|
46,Xx Ovotesticular Disorder Of Sex Development
|
46,Xx Ovotesticular Dsd
|
|
De La Chapelle Syndrome
|
Xx, Male Syndrome
|
|
46,Xx Gonadal Dysgenesis Complete Sry-Positive
|
46,Xx Sex Reversal Sry-Positive
|
|
46,Xx True Hermaphroditism Sry-Positive
|
Ovotesticular Dsd
|
|
Xx Male Sry-Positive
|
Ovotesticular Disorders Of Sex Development
|
|
46, Xx Testicular Disorders Of Sex Development
|
Resistant Ovary Syndrome
|
|
Dysgenetic Ovaries
|
Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]
|
|
True Hermaphroditism
|
Ovotestis
|
|
True Hermaphrodite
|
|
|
| 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
|
|
|
| 46,Xx Sex Reversal |
|
46,Xx Testicular Disorder Of Sex Development
|
46,Xx Testicular Dsd
|
|
De La Chapelle Syndrome
|
Srxx
|
|
Xx, Male Syndrome
|
46, Xx Testicular Disorders Of Sex Development
|
|
|
| Campomelic Dysplasia And Related Disorders |
|
|
| Gonadal Dysgenesis |
|
Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Chondroblastoma |
|
|
| Chondrosarcoma |
|
Cartilaginous Cancer
|
Chondrosarcoma Of Bone
|
|
Primary Chondrosarcoma Of The Bone
|
CHDSA
|
|
|
| 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
|
|
|
| Frasier Syndrome |
|
|
| Gonadoblastoma |
|
|
| Disorder Of Sexual Development |
|
Disorder Of Sex Development
|
Disorders Of Sex Development
|
|
Sex Development Disorder
|
Sex Differentiation Disease
|
|
Dsd
|
Sex Differentiation Disorders
|
|
|
| Osteoarthritis |
|
Osteoarthrosis
|
Degenerative Joint Disease
|
|
Hypertrophic Arthritis
|
Arthropathy
|
|
Degenerative Polyarthritis
|
Degenerative Arthritis
|
|
Osteoarthrosis And Allied Disorder
|
Arthritis, Degenerative
|
|
Oa
|
Osteoarthritis Deformans
|
|
Osteoarthrosis Deformans
|
Kashin-Beck Disease
|
|
|
| Achondroplasia |
|
Achondroplastic Dwarfism
|
ACH
|
|
Osteosclerosis Congenita
|
Achondroplastic Physique
|
|
Chondrodystrophia
|
Dwarf, Achondroplastic
|
|
Achondroplastic Short Stature
|
Congenital Osteosclerosis
|
|
|
| Hypospadias |
|
Hypospadias Familial
|
Familial Hypospadias
|
|
|
| Cartilage Disease |
|
Cartilage Diseases
|
Cartilage
|
|
Cartilage Disorder
|
Chondropathy
|
|
Cartilage Disorders
|
|
|
| Craniopharyngioma |
|
Neoplasm Of Rathke'S Pouch
|
Adamantinomatous Tumor
|
|
Craniopharyngeal Duct Tumor
|
Dysodontogenic Epithelial Tumor
|
|
Rathke'S Pouch Tumor
|
|
|
| Biliary Atresia |
|
Congenital Biliary Atresia
|
Isolated Biliary Atresia
|
|
Isolated Atresia Of Bile Ducts
|
Non-Syndromic Biliary Atresia
|
|
Atresia Of Bile Duct
|
Biliary Atresia, Congenital
|
|
Atresia Of Bile Ducts
|
Bile Duct Atresia
|
|
Congenital Bile Duct Atresia
|
Ba - [Biliary Atresia]
|
|
Impervious Bile Duct
|
Atresia Of Common Duct
|
|
Biliary Duct Atresia
|
Bile Ductal Atresia
|
|
Cystic Duct Atresia
|
|
|
| Tracheomalacia |
|
Congenital Tracheomalacia
|
Congenital Major Airway Collapse
|
|
Tracheomalacia, Congenital
|
Type 1 Tracheomalacia
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
Ighd Ia
|
Primordial Dwarfism
|
|
Isolated Growth Hormone Deficiency Type Ia
|
Sexual Ateleiotic Dwarfism
|
|
Pituitary Dwarfism I
|
IGHD1A
|
|
Illig-Type Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, Type Ia
|
|
Congenital Ighd Type Ia
|
Congenital Isolated Gh Deficiency Type Ia
|
|
Congenital Isolated Growth Hormone Deficiency Type Ia
|
Pituitary Dwarfism 1
|
|
Growth Hormone Deficiency, Isolated, Autosomal Recessive
|
Autosomal Recessive Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 1a
|
Congenital Ighd
|
|
Congenital Isolated Gh Deficiency
|
Congenital Isolated Growth Hormone Deficiency
|
|
Growth Hormone Deficiency, Isolated Autosomal Recessive
|
Illig Type Growth Hormone Deficiency
|
|
Non-Acquired Isolated Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, 1a
|
|
Growth Hormone Deficiency Isolated Autosomal Recessive
|
Dwarfism, Primordial
|
|
Dwarfism
|
|
|
| Bone Development Disease |
|
|
| Chordoma |
|
CHDM
|
Notochordoma
|
|
Notochordal Sarcoma
|
Chordoma, Susceptibility To
|
|
Chordocarcinoma
|
Chordoepithelioma
|
|
|
| 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
|
|
|
| Hypertrichosis |
|
|
| Dilated Cardiomyopathy 1t |
|
Cmd1t
|
Cardiomyopathy, Dilated, 1t
|
|
|
| Hermaphroditism |
|
|
| Fibrochondrogenesis |
|
Fbcg1
|
Fbcg2
|
|
Fibrochondrogenesis-1
|
Fibrochondrogenesis-2
|
|
Fibrochondrogenesis 1
|
Fibrochondrogenesis 2
|
|
|
| Mixed Gonadal Dysgenesis |
|
Gonadal Dysgenesis Mixed
|
Gonadal Dysgenesis, Mixed
|
|
|
| Metatropic Dysplasia |
|
Metatropic Dwarfism
|
MTD
|
|
Metatropic Dysplasia Type 1
|
Metatropic Dysplasia, Nonlethal Dominant
|
|
|
| Endosteal Hyperostosis, Autosomal Dominant |
|
Osteosclerosis
|
Worth Syndrome
|
|
Osteosclerosis, Autosomal Dominant
|
Hyperostosis, Endosteal
|
|
Endosteal Hyperostosis, Worth Type
|
Worth Disease
|
|
Autosomal Dominant Endosteal Hyperostosis
|
Autosomal Dominant Osteosclerosis, Worth Type
|
|
Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus
|
Autosomal Dominant Osteosclerosis
|
|
Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus
|
Worth'S Syndrome
|
|
Worth Type Autosomal Dominant Osteosclerosis
|
Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus
|
|
Osteosclerosis, Autosomal Dominant, Worth Type
|
WENHY
|
|
Endosteal Hyperostosis Autosomal Dominant
|
Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus
|
|
Osteosclerosis Autosomal Dominant
|
Acquired Osteosclerosis
|
|
|
| Bone Deterioration Disease |
|
|
| 46,Xy Sex Reversal 2 |
|
Dosage-Sensitive Sex Reversal
|
Dss
|
|
SRXY2
|
46,Xy Sex Reversal, Dax1-Related
|
|
46xy Sex Reversal 2, Dosage-Sensitive
|
46,Xy Sex Reversal Dax1-Related
|
|
|
| Osteochondrosis |
|
Osteochondritis
|
Apophysitis
|
|
Epiphysitis
|
Osteochondritis Juvenilis
|
|
Epiphyseal Necrosis
|
Juvenile Osteochondrosis Of Tibial Tubercle
|
|
|
| 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
|
|
|
| Metachondromatosis |
|
|
| Scoliosis |
|
|
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Pcwh Syndrome
|
PCWH
|
|
Neurologic Waardenburg-Shah Syndrome
|
Waardenburg-Shah Syndrome, Neurologic Variant
|
|
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome
|
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
|
|
Ws4 Plus
|
Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease
|
|
Waardenburg-Shah Syndrome Neurologic Variant
|
|
|
| Bone Structure Disease |
|
|
| Osteochondritis Dissecans |
|
Osteochondritis
|
Ocd
|
|
Konig Disease
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Degenerative Disc Disease |
|
Intervertebral Disc Degeneration
|
Cervical Disc Degenerative Disorder
|
|
Cervical Disc Degenerative Disease
|
Lumbar Disc Degeneration
|
|
Vertebral Disc Disease
|
Degeneration Of Lumbar Intervertebral Disc
|
|
Intervertebral Disc Disorder
|
Discogenic Disease
|
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Chondroid Chordoma |
|
|
| Tracheal Disease |
|
Tracheal Diseases
|
Tracheal Anomaly
|
|
Tracheal Disorders
|
|
|
| Hypogonadotropic Hypogonadism |
|
Klinefelter Syndrome
|
Klinefelter'S Syndrome
|
|
Xxy Syndrome
|
Xxy Trisomy
|
|
Hypogonadotropism
|
47, Xxy
|
|
Congenital Idiopathic Hypogonadotropic Hypogonadism
|
Isolated Congenital Gonadotropin Deficiency
|
|
47,Xxy Syndrome
|
47, Xxy Syndrome
|
|
Klinefelters Syndrome
|
Hypogonadism
|
|
Klinefelter Syndrome In Males
|
Klinefelter Syndrome, Unspecified
|
|
Klinefelter Syndrome Karyotype 47, Xxy
|
|
|
| Pancreatic Agenesis |
|
Partial Pancreatic Agenesis
|
Congenital Pancreatic Agenesis
|
|
Partial Agenesis Of The Pancreas
|
Agenesis, Pancreatic
|
|
Pancreatic Agenesis, Congenital
|
|
|
| Hypochondroplasia |
|
HCH
|
Hypochondrodysplasia
|
|
Chondrogenesis Imperfecta
|
Hypochondroplastic Dwarfism
|
|
Hypochondroplastic Short Stature
|
|
|
| Alagille Syndrome 1 |
|
Alagille Syndrome
|
Arteriohepatic Dysplasia
|
|
Alagille-Watson Syndrome
|
Cholestasis With Peripheral Pulmonary Stenosis
|
|
Hepatic Ductular Hypoplasia
|
Alagille Syndrome Due To A Jag1 Point Mutation
|
|
ALGS1
|
Algs
|
|
Aws
|
Syndromic Bile Duct Paucity
|
|
Cardiovertebral Syndrome
|
Hepatofacioneurocardiovertebral Syndrome
|
|
Paucity Of Interlobular Bile Ducts
|
Watson-Miller Syndrome
|
|
Alagille Syndrome Due To 20p12 Microdeletion
|
Ahd
|
|
Hepatic Ductular Hypoplasia, Syndromatic
|
Watson Alagille Syndrome
|
|
Alagille'S Syndrome
|
Alagille Syndrome Due To Del(20)(P12)
|
|
Alagille Syndrome Due To Monosomy 20p12
|
Alagille-Watson Syndrome Due To Monosomy 20p12
|
|
Arteriohepatic Dysplasia Due To Monosomy 20p12
|
Syndromic Bile Duct Paucity Due To Monosomy 20p12
|
|
Alagille-Watson Syndrome Due To A Jag1 Point Mutation
|
Arteriohepatic Dysplasia Due To A Jag1 Point Mutation
|
|
Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation
|
Alagille Syndrome, Type 1
|
|
|
| Syndactyly, Type V |
|
Syndactyly Type 5
|
SDTY5
|
|
Syndactyly With Metacarpal And Metatarsal Fusion
|
Syndactyly With Associated Metacarpal And Metatarsal Fusion
|
|
Postaxial Syndactyly With Metacarpal Synostosis
|
Sd5
|
|
Syndactyly 5
|
Syndactyly Type V
|
|
|
| Tracheal Stenosis |
|
|
| Colon Adenocarcinoma |
|
Adenocarcinoma Of Colon
|
Adenocarcinoma Of The Colon
|
|
Colonic Adenocarcinoma
|
|
|
| Exostosis |
|
Osteophyte
|
Exostoses
|
|
Orbital Exostosis
|
Exostosis Of Orbit
|
|
Bone Spur
|
Bony Outgrowth
|
|
Swimmer'S Exostosis
|
Osteophytes
|
|
External Exotoses
|
Cartilaginous Exostosis
|
|
|
| Pseudohermaphroditism |
|
Indeterminate Sex And Pseudohermaphroditism
|
|
|
| Waardenburg'S Syndrome |
|
Waardenburg Syndrome
|
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
|
|
Van Der Hoeve Halbertsona Waardenburg Syndrome
|
Waardenburg Shah Syndrome
|
|
Waardenburg, Types I And/Or Ii
|
Mende Syndrome
|
|
Waardenburgs Syndrome
|
Waardenburg Syndrome, Type 4a
|
|
|
| Orofacial Cleft |
|
|
| 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
|
|
|
| 46,Xy Sex Reversal 9 |
|
SRXY9
|
46,Xy Sex Reversal, Zfpm2-Related
|
|
46xy Sex Reversal 9
|
|
|
| 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
|
|
|
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss
|
SHFM1D
|
|
Deafness, Congenital, With Split Hands And Feet
|
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss
|
|
Congenital Deafness With Split Hands And Feet
|
Split Hand-Split Foot-Deafness Syndrome
|
|
Split Hand-Split Foot-Hearing Loss Syndrome
|
Congenital Deafness And Split Hands And Feet
|
|
Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss
|
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
|
|
|
| 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
|
|
|
| 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
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Familial Bav
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Calcific Aortic Stenosis
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Calcification Of Aortic Valve
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Abnormality Of The Aortic Valve
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Aortic Valve Disease, Type 1
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Aortic Valve Disease 2
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Bicommissural Aortic Valve
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| Ovarian Gonadoblastoma |
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| Microphthalmia, Syndromic 3 |
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MCOPS3
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Aeg Syndrome
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Microphthalmia And Esophageal Atresia Syndrome
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Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
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Anophthalmia-Esophageal-Genital Syndrome
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Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System
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Syndromic Microphthalmia 3
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Sox2 Anophthalmia Syndrome
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Anophthalmia Clinical With Associated Anomalies
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Anophthalmia Esophageal Genital Syndrome
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Anophthalmia Microphthalmia Esophageal Atresia
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Syndromic Microphthalmia Type 3
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Sox2-Related Eye Disorders
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Anophthalmia, Clinical, With Associated Anomalies
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Syndromic Microphthalmia, Type 3
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Microphthalmia, Syndromic, 3
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Anophthalmia/Microphthalmia-Esophageal Atresia
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Microphthalmia Syndromic, Type 3
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| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
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17-Ksr Deficiency
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Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency
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Pseudohermaphroditism, Male, With Gynecomastia
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17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
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Testosterone 17-Beta-Dehydrogenase Deficiency
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17-Ketosteroid Reductase Deficiency Of Testis
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17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
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17-Ketoreductase Deficiency
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17-Ketosteroidreductase Deficiency
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46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
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Male Pseudohermaphroditism With Gynecomastia
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17 Alpha Ksr Deficiency
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17 Alpha Ketosteroid Reductase Deficiency Of Testis
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17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency
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Male Pseudoherma-Phroditism With Gynecomastia
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Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency
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Male Pseudohermaphrodism With Gynecomastia
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MPH
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17-Hydroxysteroid Dehydrogenase Deficiency
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| Spermatogenic Failure |
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Azoospermia
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Spgf
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Spermatogenic Failure, Susceptibility To
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Absent Sperm
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Aspermatogenesis
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Infertility Due To Azoospermia
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Hypospermatogenesis
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Azoospermatism
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| Cryptorchidism, Unilateral Or Bilateral |
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Cryptorchidism
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Undescended Testicle
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Undescended Testis
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Cryptorchism
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Undescended Testicles
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CRYPTO
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Impaired Testicular Descent
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Cryptosporidiosis
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Retained Testis
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Unilateral Cryptorchidism
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Unilateral Undescended Testis
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Nondescent Unilateral Testicle
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Unilateral Cryptorchism
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Ectopic Testis, Unilateral
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Bilateral Cryptorchidism
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Bilateral Cryptorchism
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Bilateral Nondescent Testicle
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Bilateral Undescended Testes
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Bilateral Ectopic Testes
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| Saethre-Chotzen Syndrome |
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SCS
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Acs3
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Acs Iii
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Chotzen Syndrome
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Acrocephaly, Skull Asymmetry, And Mild Syndactyly
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Acrocephalosyndactyly Type 3
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Acrocephalosyndactyly, Type Iii
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Acrocephalosyndactyly Type Iii
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Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies
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Auralcephalosyndactyly
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Acs 3
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Acrocephalo-Syndactyly, Type 3
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Blepharophimosis,Epicanthus Inversus, And Ptosis 3
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Aural Cephalosyndactyly
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Kurczynski-Casperson Syndrome
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Acrocephalosyndactyly Iii
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Dysostosis Craniofacialis With Hypertelorism
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Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies
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Sakati Syndrome
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| Enchondromatosis, Multiple, Ollier Type |
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Ollier Disease
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Enchondromatosis
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Dyschondroplasia
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Osteochondromatosis
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Multiple Cartilaginous Enchondroses
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Multiple Enchondromatosis
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Enchondromatosis With Haemangiomata
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Enchondromatosis, Multiple
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Kast'S Syndrome
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Ollier'S Syndrome
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Enchondromatosis Multiple
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ENCHOM
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Maffucci Disease
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Olliers Disease
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Hereditary Multiple Exostoses
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Chondromatosis
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| Charge Syndrome |
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Charge Association
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Hall-Hittner Syndrome
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Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
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Hhs
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Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
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Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
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CHARGES
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| Micronodular Basal Cell Carcinoma |
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Skin Micronodular Basal Cell Carcinoma
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Basal Cell Carcinoma, Micronodular
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| Purulent Acute Otitis Media |
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Acute Suppurative Otitis Media
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Acute Or Subacute Suppurative Otitis Media
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Acute Or Subacute Purulent Otitis Media
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| Premature Menopause |
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Primary Ovarian Insufficiency
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Premature Ovarian Failure
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Hypergonadotropic Hypogonadism
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Premature Ovarian Insufficiency
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Menopause - Premature
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Menopause Praecox
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Menopause Premature
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Menopause, Premature
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Female Hypergonadotropic Hypogonadism
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Hypergonadotrophic Ovarian Failure
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Primary Female Hypogonadism
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Pof - [Premature Ovarian Failure]
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Ovarian Failure
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Ovarian Secretion Suppression
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Ovary Hyposecretion
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Ovary Secretion Deficiency
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Premature Menopause Nos
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| Aniridia 1 |
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Aniridia
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Congenital Aniridia
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AN1
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An
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Cataract With Late-Onset Corneal Dystrophy
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Aplasia Of Iris
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Absent Iris
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Irideremia
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Aniridia Ii, Formerly
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An2, Formerly
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An2
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Aniridia Type Ii
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Aniridia, Type 1
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An-1
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Absence Of Iris
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Agenesis Of Iris
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Congenital Absence Of Iris
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Hereditary Aniridia
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Sporadic Aniridia
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| Prostate Cancer |
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Prostate Carcinoma
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Prostate Cancer, Familial
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Prostate Neoplasm
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Prostate Cancer, Somatic
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Prostate Cancer, Susceptibility To
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Prostatic Cancer
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Prostatic Neoplasms
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Hereditary Prostate Cancer
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Prostatic Neoplasm
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Cancer Of Prostate
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Carcinoma Of Prostate
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Familial Prostate Cancer
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Familial Prostate Carcinoma
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Malignant Tumor Of Prostate
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Malignant Neoplasm Of Prostate
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Prostate Cancer, Familial, Susceptibility To
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Malignant Tumor Of The Prostate
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Ngp - New Growth Of Prostate
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Tumor Of The Prostate
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Prostate Cancer, Hereditary
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Cancer Of The Prostate
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Malignant Neoplasm Of The Prostate
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Prostatic Carcinoma
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PC
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Prca
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Cancer, Prostate
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Malignant Prostatic Tumour
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Malignant Tumour Of Prostate
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Primary Prostate Cancer
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Primary Malignant Neoplasm Of Prostate
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Prostate Gland Cancer
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| Brittle Bone Disorder |
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Osteogenesis Imperfecta
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Brittle Bone Disease
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Fragilitas Ossium
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Osteopsathyrosis
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Lobstein Disease
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Oi
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Vrolik Disease
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Lobstein'S Disease
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Lobstein'S Syndrome
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Vrolik'S Disease
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Porak And Durante Disease
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Glass Bone Disease
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Osteogenesis Imperfecta, Dominant Perinatal Lethal
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Osteogenesis Imperfecta, Recessive Perinatal Lethal
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Brittle Bone Syndrome
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Oi - [Osteogenesis Imperfecta]
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Ossium Fragility
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Osteitis Fragilitans
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Bony Fragility
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Blue Sclera With Fragility Of Bone And Deafness
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White Blue Sclera - Fragility Of Bone - Deafness
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| Breast Cancer |
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Breast Carcinoma
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Male Breast Cancer
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Breast Cancer, Familial
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Malignant Neoplasm Of Breast
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Breast Cancer, Susceptibility To
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Breast Cancer, Early-Onset
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Malignant Tumor Of Breast
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Carcinoma Of Male Breast
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Breast Cancer, Invasive Ductal
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Breast Cancer, Protection Against
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Breast Cancer, Somatic
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Breast Cancer, Male
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Breast Cancer, Lobular, Somatic
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Breast Tumor
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Mammary Cancer
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Mammary Tumor
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Malignant Neoplasm Of Male Breast
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Mammary Carcinoma
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Male Breast Carcinoma
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Familial Cancer Of Breast
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Invasive Ductal Breast Carcinoma
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Breast Cancer Susceptibility
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Breast Cancer, Male, Susceptibility To
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Breast Cancer, Early-Onset, Susceptibility To
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Malignant Tumor Of The Breast
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Mammary Neoplasm
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Primary Breast Cancer
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Neoplasm Of Male Breast
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Carcinoma Of Breast
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Breast Cancer In Men
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Familial Breast Cancer
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Cancer Of Breast
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BC
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Breast Cancer Familial
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Breast Cancer Familial Male
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Breast Cancer, Familial Male
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Breast Male Carcinoma
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Breast Neoplasms
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Breast Neoplasms, Male
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Mammary Tumors
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Mammary Carcinomas
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Cancer, Breast
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Cancer, Breast, Susceptibility
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Invasive Breast Ductal Carcinoma
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Breast Neoplasm
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Susceptibility To Breast Cancer
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Mammary Neoplasms
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Animal Mammary Neoplasms
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Primary Malignant Neoplasm Of Breast
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Infiltrating Ductal Carcinoma Of Breast
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Infiltrating Duct Carcinoma Of Unspecified Site
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Infiltrating Ductular Carcinoma Of Unspecified Site
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Invasive Breast Carcinoma Of No Special Type
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Microinvasive Carcinoma Of Breast
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Carcinoma With Apocrine Differentiation
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| Brachydactyly |
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| Craniosynostosis |
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Premature Closure Of Cranial Sutures
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Craniostenosis
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Craniosynostosis Syndrome
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Cso
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Craniosynostoses
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Congenital Ossification Of Cranial Sutures
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Congenital Ossification Of Sutures Of Skull
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Craniostosis
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Imperfect Fusion Of Skull
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Congenital Imperfect Closure Skull
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Imperfect Closure Skull
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Premature Closure Cranium Sutures
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Deficiency Of Craniofacial Axis
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| Hirschsprung Disease 1 |
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Hirschsprung Disease
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Aganglionic Megacolon
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Hscr
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Hirschsprung'S Disease
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Congenital Megacolon
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Congenital Intestinal Aganglionosis
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Colonic Aganglionosis
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Hirschsprung Disease, Susceptibility To, 1
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Hirschsprung Disease, Protection Against
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HSCR1
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Mgc
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Pelvirectal Achalasia
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Total Intestinal Aganglionosis
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Megacolon, Aganglionic
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Macrocolon
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Hscr 1
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Hirschsprung Disease Type 1
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Hirschsprung Disease, Type 1
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Congenital Dilatation Of Colon
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Aganglionosis
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Congenital Aganglionic Megacolon
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Aganglionosis Of Colon
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Bowel Aganglionosis
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Colon Aganglionosis
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Hirschsprung Megacolon
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| Chromosome 2q35 Duplication Syndrome |
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Syndactyly
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Syndactyly Type 1
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Sdty1
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Zygodactyly
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Syndactyly, Type I
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Sd1
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Syndactyly, Type 1, With Or Without Craniosynostosis
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Symphalangism
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Non-Syndromic Syndactyly
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Symphalangy
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Webbing Of Digits
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Syndactyly, Type 1
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| Maturity-Onset Diabetes Of The Young |
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MODY
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Maturity Onset Diabetes Mellitus In Young
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Mason-Type Diabetes
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Mason Type Diabetes
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Maturity Onset Diabetes Of The Young
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Mody Syndrome
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Diabetes Of The Young, Maturity-Onset
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| Wilms Tumor 1 |
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Nephroblastoma
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Wilms Tumor
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WT1
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Wilms' Tumor
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Bilateral Wilms Tumor
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Wilms Tumor, Type 1
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Wilms Tumor, Somatic
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Adult Nephroblastoma
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Wt1 Disorder
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Renal Embryonic Tumor
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Adult Kidney Wilms Tumor
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Childhood Kidney Wilms Tumor
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Nonanaplastic Kidney Wilms Tumor
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| Tetralogy Of Fallot |
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TOF
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Fallot Tetralogy
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Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
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Tetrad Of Fallot
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Fallot Tetrad
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Fallot Disease
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Fallot Complex
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Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
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Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
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Interventricular Septal Defect, In Tetralogy Of Fallot
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Ventricular Septal Defect With Obstructed Right Ventricular Outflow
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Tof - [Tetralogy Of Fallot]
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Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
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Pulmonary Atresia, Ventricular Septal Defect And Mapcas
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Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
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Nervous System Disorder
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| Retinitis Pigmentosa |
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RP
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Rod-Cone Dystrophy
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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