| Diseases |
Alias |
|
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
HH6
|
Kallmann Syndrome 6
|
|
Kal6
|
Hypogonadotropic Hypogonadism, Type 6 With/Without Anosmia
|
|
|
| Kallmann Syndrome 6 |
|
|
| Holoprosencephaly 1 |
|
Arhinencephaly
|
HPE1
|
|
Cyclopia
|
Holoprosencephaly, Familial Alobar
|
|
Hpe, Familial
|
Hpec
|
|
Demyer Sequence
|
Holoprosencephaly-1
|
|
|
| Semilobar Holoprosencephaly |
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Normosmic Idiopathic Hypogonadotropic Hypogonadism
|
Nihh
|
|
|
| Septopreoptic Holoprosencephaly |
|
|
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Mih
|
Mih Type Hpe
|
|
Mihf
|
Mihv
|
|
Middle Interhemispheric Fusion Variant
|
Middle Interhemispheric Variant Of Holoprosencephaly
|
|
Syntelencephaly
|
|
|
| Kallmann Syndrome |
|
Hypogonadism With Anosmia
|
Kallman'S Syndrome
|
|
Anosmic Hypogonadism
|
Anosmic Idiopathic Hypogonadotropic Hypogonadism
|
|
Hypogonadotropic Hypogonadism And Anosmia
|
Hypogonadotropic Hypogonadism-Anosmia Syndrome
|
|
Olfacto-Genital Pathological Sequence
|
Familial Hypogonadism With Anosmia
|
|
Kallman Syndrome
|
Dysplasia Olfactogenitalis Of De Morsier
|
|
Kallmann'S Syndrome
|
Congenital Hypogonadotropic Hypogonadism With Anosmia
|
|
|
| Microform Holoprosencephaly |
|
Hpe, Minor Form
|
Hpe-L
|
|
Holoprosencephaly, Minor Form
|
Holoprosencephaly-Like
|
|
Microform Hpe
|
|
|
| Lobar Holoprosencephaly |
|
|
| Alobar Holoprosencephaly |
|
|
| Caronte |
|
|
| 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
|
|
|
| Hypoplastic Femurs And Pelvis |
|
|
| 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
|
|
|
| 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
|
|
|
| Hypospadias |
|
Hypospadias Familial
|
Familial Hypospadias
|
|
|
| Syngnathia |
|
Cleft Palate-Lateral Synechia Syndrome
|
Cpls Syndrome
|
|
Cleft Palate Lateral Synechia Syndrome
|
|
|
| Hypogonadism |
|
|
| Teratocarcinoma |
|
Mixed Embryonal Carcinoma And Teratoma
|
|
|
| Deafness, Autosomal Recessive 51 |
|
DFNB51
|
Autosomal Recessive Nonsyndromic Deafness 51
|
|
Autosomal Recessive Deafness 51
|
|
|
| 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
|
|
|
| Choanal Atresia, Posterior |
|
Choanal Atresia
|
Atresia Of Nares
|
|
Posterior Choanal Atresia
|
PCA
|
|
Imperforate Nares
|
Choanal Fusion
|
|
Congenital Stenosis Of Nares
|
Congenital Stenosis Of Choanae
|
|
Nasal Atresia Nos
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Jackson-Weiss Syndrome |
|
JWS
|
Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities
|
|
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome
|
Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
|
|
|
| Thanatophoric Dysplasia, Type I |
|
Thanatophoric Dysplasia
|
Thanatophoric Dwarfism
|
|
Thanatophoric Dysplasia Type 1
|
TD1
|
|
Td
|
Thanatophoric Short Stature
|
|
Thanatophoric Dwarfism Type 1
|
Thanatophoric Dysplasia Type I
|
|
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
|
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
|
|
Skeletal Dysplasia, San Diego Type
|
Plsd San Diego Type
|
|
Thanatophoric Dwarfism 1
|
Dwarfism Thanatophoric
|
|
Dwarf, Thanatophoric
|
Thanatophoric Dysplasia 1
|
|
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type
|
Platyspondylic Lethal Skeletal Dysplasia San Diego Type
|
|
Thanatophoric Dwarf
|
Thanatophoric Dwarfism Or Short Stature
|
|
Thanatophoric Dwarfism Syndrome
|
Td - [Thanatophoric Dwarfism]
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Fertile Eunuch Syndrome
|
Pasqualini Syndrome
|
|
HH23
|
46,Xy Disorder Of Sex Development Due To Lhb Deficiency
|
|
46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Subunit Beta Deficiency
|
46,Xy Dsd Due To Lhb Deficiency
|
|
46,Xy Dsd Due To Luteinizing Hormone Subunit Beta Deficiency
|
Leydig Cell Hypoplasia Due To Lhb Deficiency
|
|
Leydig Cell Hypoplasia Due To Luteinizing Hormone Subunit Beta Deficiency
|
Eunuchoidism With Spermatogenesis, Normal Fsh And Low Or Normal Interstitial Cell-Stimulating Hormone
|
|
Hypogonadism, Hypogonadotropic, Type 23, With/Without Anosmia
|
|
|
| Holoprosencephaly 4 |
|
HPE4
|
Holoprosencephaly-4
|
|
Holoprosencephaly, Type 4
|
|
|
| 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
|
|
|
| Parkinson Disease, Late-Onset |
|
Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
|
Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
| 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
|
|
|
| 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
|
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Pallister-Hall Syndrome |
|
PHS
|
Hypothalamic Hamartomas
|
|
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly
|
Hypothalamic Hamartoblastoma Syndrome
|
|
Hamartoma Of The Hypothalamus
|
Pallister Hall Syndrome
|
|
Hall-Pallister Syndrome
|
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
|
|
Hamartoma, Hypothalamic
|
|
|
| Treacher Collins Syndrome 1 |
|
Treacher Collins Syndrome
|
Mandibulofacial Dysostosis
|
|
Treacher Collins-Franceschetti Syndrome
|
Tcof
|
|
Tcs
|
Mfd1
|
|
Franceschetti-Klein Syndrome
|
TCS1
|
|
Franceschetti Syndrome
|
Franceschetti-Zwahlen-Klein Syndrome
|
|
Zygoauromandibular Dysplasia
|
Treacher-Collins Syndrome
|
|
Mandibulofacial Dysostosis Without Limb Anomalies
|
Bilateral And Symmetric Oto-Mandibular Dysplasia
|
|
|
| Orofacial Cleft |
|
|
| Vacterl Association |
|
Vater Association
|
Vater Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Metacarpal 4-5 Fusion |
|
Syndactyly Type 8
|
MF4
|
|
Fusion Of Metacarpals 4 And 5
|
Metacarpals 4 And 5 Fusion
|
|
Metacarpal 4 5 Fusion
|
|
|
| Septooptic Dysplasia |
|
Septo-Optic Dysplasia
|
De Morsier Syndrome
|
|
Growth Hormone Deficiency With Pituitary Anomalies
|
SOD
|
|
Pituitary Hormone Deficiency, Combined, 5
|
Septo-Optic Dysplasia Spectrum
|
|
Septo-Optic Dysplasia With Growth Hormone Deficiency
|
Pituitary Hormone Deficiency, Combined 5
|
|
Hypopituitarism And Septooptic 'Dysplasia'
|
GHDPA
|
|
CPHD5
|
Dysplasia, Septo-Optic
|
|
Kallmann Syndrome
|
|
|
| Split Hand-Foot Malformation |
|
Ectrodactyly
|
Split-Hand/Foot Malformation
|
|
Lobster-Claw Deformity
|
Split-Hand Deformity
|
|
Split Hand Foot Malformation
|
Shfm
|
|
Split Hand Foot Deformity
|
Split Hand Foot Deformity 1
|
|
|
| Solitary Median Maxillary Central Incisor |
|
SMMCI
|
Fused Incisors
|
|
Single Upper Central Incisor
|
Single Central Maxillary Incisor
|
|
Single Median Maxillary Central Incisor
|
Solitary Median Maxillary Central Incisor Syndrome
|
|
Incisors Fused
|
Incisors, Fused
|
|
|
| Anus, Imperforate |
|
Imperforate Anus
|
Anorectal Malformation
|
|
Anal Atresia
|
Anorectal Malformations
|
|
Congenital Atresia Of Anus
|
Congenital Or Infantile Occlusion Of Anus
|
|
Anal Stenosis
|
Arm
|
|
|
| Synostosis |
|
|
| 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
|
|
Familial Prostate Carcinoma
|
Malignant Tumor Of Prostate
|
|
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
|
|
|
| Syndactyly, Type Iv |
|
Syndactyly Type 4
|
Polysyndactyly, Haas Type
|
|
SDTY4
|
Haas Type Syndactyly
|
|
Sd4
|
Polysyndactyly Type Haas
|
|
Syndactyly 4
|
Polysyndactyly Haas Type
|
|
Syndactyly Type Iv
|
|
|
| Renal Hypoplasia |
|
|
| 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
|
|
|
| Greig Cephalopolysyndactyly Syndrome |
|
GCPS
|
Polysyndactyly With Peculiar Skull Shape
|
|
Polysyndactyly With Peculiars Skull Shape
|
Greig Syndrome
|
|
Cephalopolysyndactyly Syndrome
|
Greig Cephalo-Poly-Syndactyly Syndrome
|
|
Cephalopolysyndactyly, Greig Syndrome
|
Aarskog Syndrome
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
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| Sacral Defect With Anterior Meningocele |
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Caudal Regression Syndrome
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Caudal Regression Sequence
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Sacral Agenesis
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Caudal Dysgenesis Syndrome
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SDAM
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Caudal Dysplasia Sequence
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Caudal Dysplasia
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Sacral Agenesis Syndrome
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Sacral Regression Syndrome
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Sacral Defect And Anterior Sacral Meningocele
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Rudd Klimek Syndrome
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Sirenomelia
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| Physical Disorder |
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| Agnathia-Otocephaly Complex |
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Otocephaly
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Holoprosencephaly-Agnathia
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Dysgnathia Complex Agnathia-Holoprosencephaly
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AGOTC
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Agnathia-Holoprosencephaly-Situs Inversus Syndrome
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Dysgnathia Complex
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Agnathia-Holoprosencephaly
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Cervical Auricle
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| Van Der Woude Syndrome |
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Lip-Pit Syndrome
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Vws
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Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip
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Vdws
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Lps
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Lip Pit Syndrome
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Cleft Lip/Palate With Mucous Cysts Of Lower Lip
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Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
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| Velocardiofacial Syndrome |
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Shprintzen Syndrome
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VCFS
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Chromosome 22q11.2 Deletion Syndrome
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Vcf Syndrome
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Shprintzen Vcf Syndrome
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Vcf-Velocardiofacial Syndrome
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Velo-Cardio-Facial Syndrome
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Digeorge Syndrome
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22q11 Deletion Syndrome
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Conotruncal Anomaly Face Syndrome
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| Hand-Foot-Genital Syndrome |
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Hand-Foot-Uterus Syndrome
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Hfgs
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Hfg Syndrome
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Hfu Syndrome
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HFG
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Hfu
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Hand Foot Uterus Syndrome
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Hand Foot Genital Syndrome
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| Dysostosis |
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| Bone Development Disease |
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| Parietal Foramina |
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Enlarged Parietal Foramina
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Hereditary Cranium Bifidum
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Symmetric Parietal Foramina
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Catlin Marks
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Foramina Parietalia Permagna
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Caitlin Marks
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Cranium Bifidum
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Cranium Bifidum Occultum
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Fenestrae Parietals Symmetricae
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Fpp
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Giant Parietal Foramina
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Pfm
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Fenestrae Parietales Symmetricae
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Foramina, Parietal
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| Coloboma Of Macula |
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Coloboma
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Congenital Ocular Coloboma
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Microphthalmia, Isolated, With Coloboma
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Agenesis Of Macula
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Hereditary Macular Coloboma
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Ocular Coloboma
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Coloboma Of Eye
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Macular Coloboma
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Uveoretinal Coloboma
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| Heart Septal Defect |
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Septal Defect
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Heart Septal Defects
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Cardiac Septal Defects
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Congenital Septal Defect Of Heart
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| Neural Tube Defects |
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Spina Bifida
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Neural Tube Defect
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NTD
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Neural Tube Defects, Susceptibility To
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Spinal Dysraphism
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Spina Bifida, Susceptibility To
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Rachischisis
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Cleft Spine
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Open Spine
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Hydrocele Spinalis
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Neural Tube Defect Nos
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Sb - [Spina Bifida]
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Spinal Hernia Nos
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Spinal Fissure Nos
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| Branchiooculofacial Syndrome |
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Branchio-Oculo-Facial Syndrome
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BOFS
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Bof Syndrome
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Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
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Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
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Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
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Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging
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Bofs Syndrome
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Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
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| Townes-Brocks Syndrome |
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Townes Syndrome
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Renal-Ear-Anal-Radial Syndrome
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Anus, Imperforate, With Hand, Foot And Ear Anomalies
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Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome
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Rear Syndrome
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Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs
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Tbs
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Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs
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Imperforate Anus With Hand, Foot And Ear Anomalies
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Anal-Ear-Renal-Radial Malformation Syndrome
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Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome
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Imperforate Anus-Hand And Foot Anomalies Syndrome
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Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome
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Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
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| Ventricular Septal Defect |
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Ventricular Septal Defects
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Interventricular Septal Defect
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Heart Septal Defects, Ventricular
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Ventricular Septal Abnormality
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Interventricular Septum Defect
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Ventricular Septum Defect
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Vsd - [Ventricular Septum Defect]
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Congenital Ventricular Septal Defect
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Single Ventricular Septal Defect
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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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| Tooth Agenesis |
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Oligodontia
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Hypodontia
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Selective Tooth Agenesis
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Tooth Agenesis, Selective
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Familial Tooth Agenesis
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Anodontia
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Congenital Absence Of One Tooth
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| Chromosomal Duplication Syndrome |
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| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
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Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss
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SHFM1D
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Deafness, Congenital, With Split Hands And Feet
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Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss
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Congenital Deafness With Split Hands And Feet
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Split Hand-Split Foot-Deafness Syndrome
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Split Hand-Split Foot-Hearing Loss Syndrome
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Congenital Deafness And Split Hands And Feet
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Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss
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Split-Hand-Foot Malformation With Sensorineural Hearing Loss
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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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| Chromosomal Disease |
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Chromosomal Disorders
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Congenital Chromosomal Disease
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| Aortic Valve Disease 1 |
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Aortic Valve Disease
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Bicuspid Aortic Valve
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Aortic Valve Disorder
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AOVD1
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Bav
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Bicuspid Aortic Valve Disease
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Familial Bicuspid Aortic Valve
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Aortic Valve Calcification
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Aovd
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Aortic Valve, Bicuspid
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Aortic Valve, Calcification Of
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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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| Robinow Syndrome |
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Acral Dysostosis With Facial And Genital Abnormalities
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Fetal Face Syndrome
|
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Robinow Dwarfism
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Mesomelic Dwarfism-Small Genitalia Syndrome
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Robinow-Silverman-Smith Syndrome
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Costovertebral Segmentation Defect With Mesomelia
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Covesdem Syndrome
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Robinow'S Syndrome
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Robinow-Silverman Syndrome
|
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| Disorder Of Sexual Development |
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Disorder Of Sex Development
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Disorders Of Sex Development
|
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Sex Development Disorder
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Sex Differentiation Disease
|
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Dsd
|
Sex Differentiation Disorders
|
|
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| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
22q11.2 Deletion Syndrome
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Autosomal Dominant Opitz G/Bbb Syndrome
|
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Catch22
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Cayler Cardiofacial Syndrome
|
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Conotruncal Anomaly Face Syndrome
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Digeorge Syndrome
|
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Sedlackova Syndrome
|
Shprintzen Syndrome
|
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Velocardiofacial Syndrome
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22q11.2 Distal Deletion Syndrome
|
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Distal 22q11.2 Microdeletion Syndrome
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22q11.2ds
|
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Vcfs
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Velo-Cardio-Facial Syndrome
|
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Distal Chromosome 22q11.2 Deletion Syndrome
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Chromosome 22q11.2 Deletion Syndrome Distal
|
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Chromosome 22q11.2 Deletion Syndrome
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Deletion 22q11.2 Syndrome
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22q11ds
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Catch 22
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Digeorge Sequence
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Microdeletion 22q11.2
|
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Monosomy 22q11
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Takao Syndrome
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Distal Del(22)(Q11.2)
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Distal Monosomy 22q11.2
|
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Catch 22 Syndrome
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Chromosome Deletion Syndrome 22q11.2, Distal
|
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| Vesicoureteral Reflux |
|
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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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| 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
|
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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| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
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Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
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| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
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