| Diseases |
Alias |
|
| Craniosynostosis 2 |
|
Warman-Mulliken-Hayward Syndrome
|
Craniosynostosis, Type 2
|
|
CRS2
|
Craniosynostosis, Boston-Type
|
|
Csb
|
Craniosynostosis, Boston Type
|
|
Craniosynostosis, Warman Type
|
Craniosynostosis Boston Type
|
|
Craniosynostosis Boston-Type
|
Craniosynostosis Warman Type
|
|
Craniosynostosis Warman-Type
|
Warman Mulliken Hayward Syndrome
|
|
|
| Parietal Foramina With Cleidocranial Dysplasia |
|
PFMCCD
|
Cleidocranial Dysplasia With Parietal Foramina
|
|
Parietal Foramina With Clavicular Hypoplasia
|
Foramina, Parietal, With Cleidocranial Dysplasia
|
|
|
| Parietal Foramina 1 |
|
Cranium Bifidum Occultum
|
PFM1
|
|
Pfm
|
Parietal Foramina, Symmetric
|
|
Foramina Parietalia Permagna
|
Fpp
|
|
Catlin Marks
|
Cranium Bifidum, Hereditary
|
|
Enlarged Parietal Foramina
|
|
|
| Parietal Foramina |
|
Enlarged Parietal Foramina
|
Hereditary Cranium Bifidum
|
|
Symmetric Parietal Foramina
|
Catlin Marks
|
|
Foramina Parietalia Permagna
|
Caitlin Marks
|
|
Cranium Bifidum
|
Cranium Bifidum Occultum
|
|
Fenestrae Parietals Symmetricae
|
Fpp
|
|
Giant Parietal Foramina
|
Pfm
|
|
Fenestrae Parietales Symmetricae
|
Foramina, Parietal
|
|
|
| Warman Mulliken Hayward Syndrome |
|
Craniosynostosis Warman Type
|
Craniosynostosis Boston Type
|
|
|
| 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
|
|
|
| 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
|
|
|
| Exencephaly |
|
|
| Saethre-Chotzen Syndrome |
|
SCS
|
Acs3
|
|
Acs Iii
|
Chotzen Syndrome
|
|
Acrocephaly, Skull Asymmetry, And Mild Syndactyly
|
Acrocephalosyndactyly Type 3
|
|
Acrocephalosyndactyly, Type Iii
|
Acrocephalosyndactyly Type Iii
|
|
Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies
|
Auralcephalosyndactyly
|
|
Acs 3
|
Acrocephalo-Syndactyly, Type 3
|
|
Blepharophimosis,Epicanthus Inversus, And Ptosis 3
|
Aural Cephalosyndactyly
|
|
Kurczynski-Casperson Syndrome
|
Acrocephalosyndactyly Iii
|
|
Dysostosis Craniofacialis With Hypertelorism
|
Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies
|
|
Sakati Syndrome
|
|
|
| Synostosis |
|
|
| Crouzon Syndrome |
|
Crouzon Craniofacial Dysostosis
|
Craniofacial Dysostosis
|
|
Cfd1
|
Craniofacial Dysostosis Type 1
|
|
Crouzon Disease
|
Crouzon'S Disease
|
|
Craniofacial Dysostosis, Type I
|
Craniofacial Dysarthrosis
|
|
Craniofacial Dysostosis Syndrome
|
CS
|
|
Craniofacial Dysostosis Type I
|
Vogt Cephalosyndactyly
|
|
|
| Dentin Dysplasia |
|
Dentinal Dysplasia
|
Dd
|
|
Dysplasia, Dentin
|
Shell Teeth
|
|
|
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Hmc Syndrome
|
Bixler Christian Gorlin Syndrome
|
|
Bixler-Christian-Gorlin Syndrome
|
Hypertelorism-Microtia-Facial Clefting Syndrome
|
|
Bixler Syndrome
|
Hypertelorism-Microtia-Clefting Syndrome
|
|
Hypertelorism Microtia Facial Clefting Syndrome
|
|
|
| Headache |
|
|
| Jackson-Weiss Syndrome |
|
JWS
|
Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities
|
|
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome
|
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
|
|
|
| Muenke Syndrome |
|
Muenke Nonsyndromic Coronal Craniosynostosis
|
Fgfr3-Related Craniosynostosis
|
|
Fgfr3-Associated Coronal Synostosis
|
Coronal Craniosynostosis
|
|
MNKES
|
Syndrome Of Coronal Craniosynostosis
|
|
MNKS
|
Fgfr3-Related Isolated Coronal Synostosis
|
|
Muenke Non-Syndromic Coronal Craniosynostosis
|
|
|
| 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
|
|
|
| Amelogenesis Imperfecta |
|
Ai
|
Congenital Enamel Hypoplasia
|
|
Al - [Amelogenesis Imperfecta]
|
|
|
| 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
|
|
|
| Frontonasal Dysplasia 1 |
|
Frontorhiny
|
Frontonasal Dysplasia
|
|
Fnd
|
Frontonasal Malformation
|
|
Fnm
|
Median Facial Cleft Syndrome
|
|
Midline Facial Cleft
|
FND1
|
|
Median Cleft Face Syndrome
|
Median Cleft Syndrome
|
|
Frontonasal Dysplasia Sequence
|
Median Facial Cleft
|
|
Tessier Number 0-14 And 30 Facial Cleft
|
Alx3-Related Frontonasal Dysplasia
|
|
Frontonasal Dysplasia Type 1
|
Isolated Median Cleft Face Syndrome
|
|
Doid:0081044
|
Doid:0081045
|
|
Dysplasia, Frontonasal, Type
|
|
|
| Achondroplasia |
|
Achondroplastic Dwarfism
|
ACH
|
|
Osteosclerosis Congenita
|
Achondroplastic Physique
|
|
Chondrodystrophia
|
Dwarf, Achondroplastic
|
|
Achondroplastic Short Stature
|
Congenital Osteosclerosis
|
|
|
| Bone Development Disease |
|
|
| Apert Syndrome |
|
Acrocephalosyndactyly Type I
|
Acs1
|
|
Acrocephalosyndactylia
|
Acrocephalosyndactyly
|
|
Acs I
|
Apert-Crouzon Disease
|
|
Acrocephalosyndactyly Type 1
|
Acrocephalosyndactyly, Type I
|
|
Acs 1
|
Acrocephalo-Syndactyly Type 1
|
|
Syndactylic Oxycephaly
|
Apert'S Syndrome
|
|
Type I Acrocephalosyndactyly
|
APRS
|
|
|
| Baastrup'S Syndrome |
|
Kissing Spine
|
Baastrup Syndrome
|
|
Kissing Spine, Site Unspecified
|
Osteoarthrosis Interspinalis
|
|
Overriding Of Dorsal Spinous Processes
|
Localised Idiopathic Skeletal Hyperostosis
|
|
Baastrup Disease
|
|
|
| Trichodentoosseous Syndrome |
|
Tricho-Dento-Osseous Syndrome
|
Tdo Syndrome
|
|
Trichodontoosseous Syndrome
|
TDO
|
|
Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
|
|
|
| Craniofrontonasal Syndrome |
|
Craniofrontonasal Dysplasia
|
CFNS
|
|
Cfnd
|
Craniofrontonasal Dysostosis
|
|
Craniofrontonasal Dystosis
|
Dysplasia, Craniofrontonasal
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Brachydactyly, Type A2 |
|
Brachydactyly Type A2
|
BDA2
|
|
Mohr-Wriedt Type Brachydactyly
|
Brachymesophalangy Ii
|
|
Brachymesophalangy Type 2
|
Brachymesophalangy 2
|
|
Brachydactyly, Mohr-Wriedt Type
|
Brachydactyly A2
|
|
|
| Dysostosis |
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Craniofacial Microsomia |
|
Goldenhar Syndrome
|
Hemifacial Microsomia
|
|
Oculoauriculovertebral Spectrum
|
Oavs
|
|
Oculo-Auriculo-Vertebral Spectrum
|
CFM
|
|
Oav Dysplasia
|
Facioauriculovertebral Sequence
|
|
Fav Sequence
|
First And Second Branchial Arch Syndrome
|
|
Otomandibular Dysostosis
|
Hfm
|
|
Oculoauriculovertebral Dysplasia
|
Facio-Auriculo-Vertebral Spectrum
|
|
Facioauriculovertebral Dysplasia
|
Oculo-Auriculo-Vertebral Dysplasia
|
|
First Arch Syndrome
|
Oav Dysplasia
|
|
Goldenhar Disease
|
Expanded Spectrum Hemifacial Microsomia
|
|
Expanded Spectrum Of Hemifacial Microsomia
|
Oculoauriculovertebral Syndrome
|
|
Oavd
|
Asymmetric Hypoplasia Of Facial Structures
|
|
Auriculobranchiogenic Dysplasia
|
Fav
|
|
First And Second Pharyngeal Arch Syndromes
|
Goldenhar-Gorlin Syndrome
|
|
Lateral Facial Dysplasia
|
Oav Complex
|
|
Oral-Mandibular-Auricular Syndrome
|
Unilateral Intrauterine Facial Necrosis
|
|
Unilateral Mandibulofacial Dysostosis
|
Oav Spectrum
|
|
Oculoauricular Vertebral Dysplasia
|
Microsomia, Hemifacial
|
|
Goldenhar Syndrome With Ipsilateral Radial Defect
|
|
|
| Pfeiffer Syndrome |
|
Infectious Mononucleosis
|
Acs5
|
|
Craniofacial-Skeletal-Dermatologic Dysplasia
|
Acs V
|
|
Noack Syndrome
|
Gammaherpesviral Mononucleosis
|
|
Acrocephalosyndactyly Type 5
|
Pfeiffer Syndrome Type 3
|
|
Acrocephalosyndactyly, Type V
|
Glandular Fever
|
|
Pfeiffer Type Acrocephalosyndactyly
|
Pfeiffer Syndrome Type 2
|
|
Acrocephalosyndactylia Type V
|
Filatov'S Disease
|
|
Monocytic Angina
|
Mononucleosis
|
|
Pfeiffer'S Disease
|
Acsv
|
|
Acrocephalosyndactyly, Type 5
|
Craniofacial-Skeletal-Dermatologic Syndrome
|
|
Pfeiffer Syndrome Type 1
|
Classic Pfeiffer Syndrome
|
|
PS
|
Pfeiffer Syndrome Variant
|
|
Dysplasia, Craniofacial-Skeletal-Dermatologic
|
Pfeiffer
|
|
Kissing Disease
|
Infectious Adenitis
|
|
Pfeiffer Disease
|
|
|
| Arterial Calcification Of Infancy |
|
Idiopathic Infantile Arterial Calcification
|
Generalized Arterial Calcification Of Infancy
|
|
Iiac
|
Occlusive Infantile Arteriopathy
|
|
Infantile Arteriosclerosis
|
Gaci
|
|
Idiopathic Obliterative Arteriopathy
|
Generalized Arterial Calcification In Infancy
|
|
Arteriopathia Calcificans Infantum
|
Diffuse Arterial Calcifying Elastopathy Of Infancy
|
|
Infantile Calcifying Arteriopathy
|
Medial Coronary Sclerosis Of Infancy
|
|
Coronary Sclerosis, Medial, Of Infancy
|
Calcification, Arterial, Generalized, Infancy
|
|
|
| Orofacial Cleft |
|
|
| 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
|
|
|
| Carpenter Syndrome 1 |
|
Carpenter Syndrome
|
Acrocephalopolysyndactyly Type Ii
|
|
Acps Ii
|
CRPT1
|
|
Acrocephalopolysyndactyly Type 2
|
Acrocephalosyndactyly, Type Ii
|
|
Acrocephalopolysyndactyly 2
|
Acps2
|
|
Acps 2
|
Type Ii Acrocephalosyndactyly
|
|
Carpenter Syndrome, Type 1
|
Apert-Crouzon Disease
|
|
|
| Robinow Syndrome |
|
Acral Dysostosis With Facial And Genital Abnormalities
|
Fetal Face Syndrome
|
|
Robinow Dwarfism
|
Mesomelic Dwarfism-Small Genitalia Syndrome
|
|
Robinow-Silverman-Smith Syndrome
|
Costovertebral Segmentation Defect With Mesomelia
|
|
Covesdem Syndrome
|
Robinow'S Syndrome
|
|
Robinow-Silverman Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
