| 疾病名称 |
别名 |
|
| Holoprosencephaly 3 |
|
HPE3
|
Hlp3
|
|
Holoprosencephaly-3
|
Holoprosencephaly, Type 3
|
|
|
| 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
|
|
|
| Microphthalmia, Isolated, With Coloboma 5 |
|
MCOPCB5
|
Microphthalmia With Coloboma 5
|
|
Microphthalmia, Isolated, With Coloboma, 5
|
Isolated Colobomatous Microphthalmia 5
|
|
Microphthalmia, Isolated, With Coloboma, Type 5
|
|
|
| Schizencephaly |
|
Familial Schizencephaly
|
Acquired Schizencephaly
|
|
SCHZC
|
Schizencephalia
|
|
|
| Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome |
|
|
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
X-Linked Complicated Corpus Callosum Dysgenesis
|
Corpus Callosum, Partial Agenesis Of
|
|
Partial Agenesis Of The Corpus Callosum
|
Partial Agenesis Of Corpus Callosum
|
|
Agenesis Of The Corpus Callosum, X-Linked, Partial
|
ACCPX
|
|
Agenesis, Corpus Callosum, Partial
|
|
|
| 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
|
|
|
| Radial Hemimelia |
|
Radial Clubhand
|
Congenital Longitudinal Deficiency Of The Radius
|
|
Radial Longitidinal Meromelia
|
Radial Ray Agenesis
|
|
Radial Club Hand
|
Longitudinal Reduction Defect Of Radius
|
|
Agenesis Of Radial Ray
|
Agenesis Of Radius
|
|
Congenital Absence Of Radius
|
Congenital Absence Of Radius With Or Without Absence Of Some Distal Elements
|
|
Congenital Absence Of Radius With Or Without Absence Of Some, But Not All, Distal Elements
|
Congenital Club Hand
|
|
Congenital Clubhand
|
Congenital Short Radius
|
|
Manus Vara
|
Talipomanus
|
|
Total Radial Absence
|
|
|
| Semilobar Holoprosencephaly |
|
|
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Hypoplastic Or Aplastic Tibia With Polydactyly
|
Absence Of Tibia With Polydactyly
|
|
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
|
THYP
|
|
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia
|
Absent Tibia-Polydactyly Syndrome
|
|
Werner Mesomelic Syndrome
|
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
|
|
Polydactyly With Absent Tibia
|
Werner Mesomelic Spectrum
|
|
Hypoplasia Or Aplasia Of Tibia With Polydactyly
|
Wms
|
|
Tibia, Hypoplasia Of, With Polydactyly
|
|
|
| Polydactyly, Preaxial Ii |
|
PPD2
|
Polydactyly Of A Triphalangeal Thumb
|
|
Polydactyly, Preaxial Type Ii
|
Triphalangeal Thumb, Type I
|
|
Preaxial Polydactyly Type 2
|
Triphalangeal Thumb-Polysyndactyly Syndrome
|
|
Polydactyly Of Triphalangeal Thumb
|
Triphalangeal Thumb-Polydactyly Syndrome
|
|
Preaxial Polydactyly 2
|
TPTPS
|
|
Polydactyly, Preaxial, Type Ii
|
|
|
| Microform Holoprosencephaly |
|
Hpe, Minor Form
|
Hpe-L
|
|
Holoprosencephaly, Minor Form
|
Holoprosencephaly-Like
|
|
Microform Hpe
|
|
|
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Mih
|
Mih Type Hpe
|
|
Mihf
|
Mihv
|
|
Middle Interhemispheric Fusion Variant
|
Middle Interhemispheric Variant Of Holoprosencephaly
|
|
Syntelencephaly
|
|
|
| Lobar Holoprosencephaly |
|
|
| Septopreoptic Holoprosencephaly |
|
|
| Colobomatous Microphthalmia |
|
Anophthalmia-Microphthalmia Syndrome
|
Mac
|
|
Microphthalmia With Colobomatous Cyst
|
Microphthalmia-Anophthalmia-Coloboma Syndrome
|
|
Microphthalmia-Anophthalmia-Coloboma
|
Microphthalmia And Mental Deficiency
|
|
|
| Alobar Holoprosencephaly |
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Laurin-Sandrow Syndrome |
|
Sandrow Syndrome
|
Tetramelic Mirror-Image Polydactyly
|
|
Mirror-Image Polydactyly
|
Mirror Hands And Feet With Nasal Defects
|
|
Tmip
|
LSS
|
|
Mip
|
Mirror Hands And Feets-Nasal Defects Syndrome
|
|
Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius
|
Miccor Hands And Feet With Nasal Defects
|
|
Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius
|
Fibula Ulna Duplication Tibia Radius Absence
|
|
Laurin Sandrow Syndrome
|
Duplication Of Fibula And Ulna With Absence Of Tibia And Radius
|
|
Segmental Laurin-Sandrow Syndrome
|
Laurin-Sandrow Syndrome, Segmental
|
|
|
| Smith-Lemli-Opitz Syndrome |
|
SLOS
|
Rsh Syndrome
|
|
7-Dehydrocholesterol Reductase Deficiency
|
Slo Syndrome
|
|
Rutledge Lethal Multiple Congenital Anomaly Syndrome
|
Lethal Acrodysgenital Syndrome
|
|
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
|
Smith-Opitz-Inborn Syndrome
|
|
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung
|
Smith Lemli Opitz Syndrome
|
|
Smith-Lemli-Opitz Syndrome, Type Ii
|
|
|
| Large Cell Medulloblastoma |
|
|
| Cerebellar Medulloblastoma |
|
|
| Basal Cell Carcinoma |
|
Basal Cell Cancer
|
Basal Cell Neoplasm
|
|
Basal Cell Carcinoma Of Skin
|
Malignant Basal Cell Tumor
|
|
Basal Cell Tumor
|
Epithelioma Basal Cell
|
|
Malignant Basal Cell Neoplasm
|
Rodent Ulcer
|
|
Carcinoma Basal Cell
|
Neoplasms, Basal Cell
|
|
Basal Cell Carcinomas
|
Experimental Organism Basal Cell Carcinoma
|
|
Nodulo-Ulcerative Basal Cell Carcinoma
|
Basalioma
|
|
Basal Cell Epithelioma Of Skin
|
Bcc - [Basal Cell Carcinoma] Of Skin
|
|
Rodent Ulcer Of Skin
|
Rodent Ulcer Of Unspecified Site
|
|
Basal Cell Epithelioma Of Unspecified Site
|
|
|
| Brain Stem Ependymoma |
|
Ependymoma Of The Brainstem
|
|
|
| Brain Stem Medulloblastoma |
|
|
| Adult Medulloblastoma |
|
Adult Brain Medulloblastoma
|
Medulloblastoma, Adult
|
|
|
| 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
|
|
|
| Desmoplastic Nodular Medulloblastoma |
|
Medulloblastoma With Extensive Nodularity
|
Nodular Medulloblastoma
|
|
Desmoplastic/Nodular Medulloblastoma
|
Mben
|
|
Medulloblastoma, With Extensive Nodularity
|
|
|
| Infratentorial Cancer |
|
Infratentorial Neoplasms
|
Brain Neoplasm, Infratentorial
|
|
Malignant Infratentorial Tumors
|
|
|
| Cerebellar Vermis Medulloblastoma |
|
|
| Cerebellum Cancer |
|
Cerebellar Neoplasms
|
Cerebellar Cancer
|
|
Malignant Tumor Of Cerebellum
|
Malignant Neoplasm Of Cerebellum
|
|
|
| Esophageal Atresia |
|
Tracheoesophageal Fistula
|
Congenital Atresia Of Esophagus
|
|
Congenital Imperforate Esophagus
|
Imperforate Esophagus
|
|
Oesophageal Atresia
|
Te Fistula
|
|
Tef
|
Tracheoesophageal Fistula With Or Without Esophageal Atresia
|
|
|
| Holoprosencephaly 1 |
|
Arhinencephaly
|
HPE1
|
|
Cyclopia
|
Holoprosencephaly, Familial Alobar
|
|
Hpe, Familial
|
Hpec
|
|
Demyer Sequence
|
Holoprosencephaly-1
|
|
|
| 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
|
|
|
| Melanotic Medulloblastoma |
|
Medulloblastoma, Melanotic
|
|
|
| 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
|
|
|
| Blastoma |
|
|
| Anencephaly |
|
Aprosencephaly
|
Anencephalus
|
|
Congenital Absence Of Brain
|
Absence Of A Large Part Of The Brain And The Skull
|
|
Anencephalia
|
Anencephalic Monster
|
|
Brain Absence
|
Brain Agenesis
|
|
Brain Aplasia
|
Absent Brain
|
|
Anencephalic
|
Congenital Absence Of Cerebrum
|
|
Congenital Hemicrania
|
Incomplete Anencephaly
|
|
|
| Medulloblastoma Wnt Activated |
|
|
| Medulloblastoma Shh Activated |
|
|
| 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
|
|
|
| Choroid Plexus Cancer |
|
Choroid Plexus Carcinoma
|
Choroid Plexus Neoplasms
|
|
Choroid Plexus Neoplasm
|
Tumor Of Choroid Plexus
|
|
Tumor Of The Choroid Plexus
|
Choroid Plexus Tumor
|
|
Choroid Plexus Tumors
|
Anaplastic Choroid Plexus Papilloma
|
|
Choroid Plexus Papilloma Nos
|
Papilloma Of Choroid Plexus
|
|
Plexus Choroideus Papilloma
|
Choroid Plexus Papilloma In Fourth Ventricle
|
|
Plexus Choroideus Papilloma In Fourth Ventricle
|
|
|
| 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
|
|
|
| Basal Cell Nevus Syndrome |
|
Nevoid Basal Cell Carcinoma Syndrome
|
Gorlin Syndrome
|
|
Nbccs
|
BCNS
|
|
Gorlin-Goltz Syndrome
|
Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
|
|
Cerebral Gigantism Jaw Cysts
|
Cramer Niederdellmann Syndrome
|
|
Gorlin Syndrome Or Gorlin-Goltz Syndrome
|
Naevoid Basal Cell Carcinoma Syndrome
|
|
|
| Skin Carcinoma |
|
Skin Cancer
|
Carcinoma Of Skin
|
|
Ca - Skin Cancer
|
Cancer Of Skin
|
|
Malignant Neoplasm Of Skin
|
Melanoma And Non-Melanoma Skin Cancer
|
|
Skin Cancers
|
Cancer, Skin
|
|
|
| Teratoma |
|
|
| Medullomyoblastoma |
|
|
| Currarino Syndrome |
|
Currarino Triad
|
Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation
|
|
CURRAS
|
|
|
| Hypospadias |
|
Hypospadias Familial
|
Familial Hypospadias
|
|
|
| Acrocapitofemoral Dysplasia |
|
ACFD
|
Dysplasia, Acrocapitofemoral
|
|
|
| Adamantinous Craniopharyngioma |
|
Adamantinous Rathke'S Pouch Tumor
|
Craniopharyngioma, Adamantinomatous
|
|
Adamantinomatous Craniopharyngioma
|
|
|
| Holoprosencephaly 4 |
|
HPE4
|
Holoprosencephaly-4
|
|
Holoprosencephaly, Type 4
|
|
|
| Vacterl Association |
|
Vater Association
|
Vater Syndrome
|
|
|
| Hypopituitarism |
|
Pituitary Hypofunction
|
Pituitary Insufficiency
|
|
Pituitary Hormone Deficiency
|
Subpituitarism
|
|
Hypophyseal Dystrophy
|
Hypohypophysism
|
|
Anterior Pituitary Insufficiency
|
Deficient Secretion Of One Or More Pituitary Hormones
|
|
Hypopituitarism Syndrome
|
Pituitary Deficiency
|
|
Pituitary Failure
|
Pituitary Insufficiency Nos
|
|
Anterior Pituitary Hypofunction
|
Deficient Secretion Of All Pituitary Hormones
|
|
Hypopituitary Dwarfism
|
Hyposomatotropic Dwarfism
|
|
Hypophyseal Dwarfism
|
Hypopituitary Cachexia
|
|
Hypophyseal Short Stature
|
Panhypopituitarism Syndrome
|
|
Pituitary Cachexia
|
Juvenile Hypopituitarism
|
|
Pituitary Dwarfism
|
Pituitary Gland Hypofunction
|
|
Primary Hypopituitarism
|
Secondary Hypogonadism
|
|
Prepubertal Panhypopituitarism
|
Prepubertal Dwarfism
|
|
Postpartum Panhypopituitary Syndrome
|
Postpartum Hypopituitarism
|
|
Pituitary Short Stature
|
Pituitary Infantilism
|
|
Pituitary Hypogonadism
|
Pituitary Hypoadrenocorticism
|
|
|
| Focal Dermal Hypoplasia |
|
Goltz Syndrome
|
Goltz-Gorlin Syndrome
|
|
FDH
|
FODH
|
|
Dhof
|
Goltz Gorlin Syndrome
|
|
Hypoplasia, Dermal, Focal
|
|
|
| Adult Central Nervous System Primitive Neuroectodermal Neoplasm |
|
Adult Cns Pnet
|
Adult Central Nervous System Primitive Neuroectodermal Tumor
|
|
|
| Culler-Jones Syndrome |
|
Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome
|
CJS
|
|
Pallister-Hall Syndrome 2, Formerly
|
Phs2, Formerly
|
|
Pallister-Hall Syndrome 2
|
Phs2
|
|
|
| Astigmatism |
|
|
| Acrocallosal Syndrome |
|
ACLS
|
Schinzel Acrocallosal Syndrome
|
|
Joubert Syndrome 12
|
Schinzel Syndrome 1
|
|
Acrocallosal Syndrome, Schinzel Type
|
Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
|
|
Acs
|
Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly
|
|
Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum
|
JBTS12
|
|
Acrocallosal Syndrome
|
|
|
|
| Childhood Medulloblastoma |
|
Medulloblastoma, Childhood
|
Pediatric Medulloblastoma
|
|
Medulloblastoma Childhood
|
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
Rhabdoid Tumor Predisposition Syndrome
|
Rtps
|
|
Atypical Teratoid/Rhabdoid Tumor
|
Rhabdoid Predisposition Syndrome
|
|
Familial Posterior Fossa Brain Tumor Of Infancy
|
Familial Rhabdoid Tumor
|
|
At/Rt
|
Atypical Teratoid Rhabdoid Tumour
|
|
Atypical Teratoid/Rhabdoid Tumour
|
Rhabdoid Tumor Of The Cns
|
|
Rhabdoid Tumour Of The Cns
|
Familial Posterior Fossa Brain Tumor Syndrome
|
|
Hereditary Swi/Snf Deficiency Syndrome
|
Atrt
|
|
|
| Anus, Imperforate |
|
Imperforate Anus
|
Anorectal Malformation
|
|
Anal Atresia
|
Anorectal Malformations
|
|
Congenital Atresia Of Anus
|
Congenital Or Infantile Occlusion Of Anus
|
|
Anal Stenosis
|
Arm
|
|
|
| Brachydactyly |
|
|
| Hypertrichosis |
|
|
| Medulloblastoma Shh Activated And Tp53 Wild-Type |
|
Medulloblastoma Shh-Activated Tp53-Wildtype
|
|
|
| Supratentorial Primitive Neuroectodermal Tumor |
|
Supratentorial Pnet
|
Supratentorial Embryonal Tumor, Not Otherwise Specified
|
|
Ewings Sarcoma-Primitive Neuroectodermal Tumor
|
|
|
| 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
|
|
|
| Childhood Infratentorial Neoplasm |
|
Pediatric Infratentorial Tumor
|
|
|
| Acheiropody |
|
Acheiropodia
|
ACHP
|
|
Acheiropody, Brazilian Type
|
Horn-Kolb Syndrome
|
|
Horn Kolb Syndrome
|
Acheiropody Brazilian Type
|
|
|
| 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
|
|
|
| Donnai-Barrow Syndrome |
|
Faciooculoacousticorenal Syndrome
|
Dbs/Foar Syndrome
|
|
Foar Syndrome
|
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
|
|
Facio-Oculo-Acoustico-Renal Syndrome
|
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
|
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome
|
Holmes-Schepens Syndrome
|
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness
|
DBS
|
|
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria
|
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
|
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
|
|
Donnai Barrow Syndrome
|
|
|
| Alopecia |
|
|
| Urethral Syndrome |
|
Urethral Disease
|
Urethral Diseases
|
|
Urethra Disease
|
Abnormality Of The Urethra
|
|
Urethral Disorders
|
|
|
| Physical Disorder |
|
|
| Pancreas, Annular |
|
Annular Pancreas
|
Pancreas Annulare
|
|
Congenital Annular Pancreas
|
|
|
| Fetal Alcohol Spectrum Disorder |
|
Fetal Alcohol Spectrum Disorders
|
Fetal Alcohol Syndrome
|
|
|
| Holoprosencephaly 9 |
|
Pituitary Anomalies With Holoprosencephaly-Like Features
|
HPE9
|
|
Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies
|
Holoprosencephaly-9
|
|
Holoprosencephaly, Type 9
|
|
|
| Medulloblastoma Shh Activated And Tp53 Mutant |
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Patau Syndrome |
|
Trisomy 13
|
Complete Trisomy 13 Syndrome
|
|
Trisomy 13 Syndrome
|
D1 Trisomy
|
|
Patau'S Syndrome
|
Complete Trisomy 13
|
|
Chromosome 13, Trisomy 13 Complete
|
D Trisomy Syndrome
|
|
Bartholin-Patau Syndrome
|
Chromosome 13 Duplication
|
|
D1 Trisomy Syndrome
|
D>1< Trisomy Syndrome
|
|
Patau
|
Chromosome 13 Trisomy
|
|
Abnormal Autosomes 13
|
|
|
| Rela Fusion-Positive Ependymoma |
|
Supratentorial C11orf95-Rela Fused Ependymoma
|
C11orf95 Fusion-Positive Supratentorial Ependymoma
|
|
|
| Pancreatic Cancer |
|
Pancreatic Carcinoma
|
Carcinoma Of Pancreas
|
|
Familial Pancreatic Carcinoma
|
Pancreatic Neoplasm
|
|
Pancreatic Carcinoma, Familial
|
Malignant Neoplasm Of Pancreas
|
|
Pancreatic Acinar Carcinoma
|
Pancreatic Tumor
|
|
Familial Pancreatic Cancer
|
Neoplasm Of The Pancreas
|
|
Cancer Of The Pancreas
|
Pancreatic Carcinoma, Somatic
|
|
Pancreatic Cancer, Somatic
|
Ca Body Of Pancreas
|
|
Ca Head Of Pancreas
|
Ca Tail Of Pancreas
|
|
Malignant Neoplasm Of Body Of Pancreas
|
Malignant Neoplasm Of Head Of Pancreas
|
|
Malignant Neoplasm Of Tail Of Pancreas
|
Pancreas Neoplasm
|
|
Exocrine Cancer
|
Exocrine Pancreas Carcinoma
|
|
Hereditary Pancreatic Cancer
|
Hereditary Pancreatic Carcinoma
|
|
PNCA
|
Pancreatic Cancer, Susceptibility To
|
|
Carcinoma Of Head Of Pancreas
|
Pancreatic Neoplasms
|
|
Pancreatic Tumors
|
Cancer, Pancreatic
|
|
Cancer Of Pancreas
|
Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
|
|
|
| Holoprosencephaly 6 |
|
|
| Sacral Defect With Anterior Meningocele |
|
Caudal Regression Syndrome
|
Caudal Regression Sequence
|
|
Sacral Agenesis
|
Caudal Dysgenesis Syndrome
|
|
SDAM
|
Caudal Dysplasia Sequence
|
|
Caudal Dysplasia
|
Sacral Agenesis Syndrome
|
|
Sacral Regression Syndrome
|
Sacral Defect And Anterior Sacral Meningocele
|
|
Rudd Klimek Syndrome
|
Sirenomelia
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Primary Ovarian Insufficiency 6 |
|
|
| Agnathia-Otocephaly Complex |
|
Otocephaly
|
Holoprosencephaly-Agnathia
|
|
Dysgnathia Complex Agnathia-Holoprosencephaly
|
AGOTC
|
|
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
|
Dysgnathia Complex
|
|
Agnathia-Holoprosencephaly
|
Cervical Auricle
|
|
|
| Brain Cancer |
|
Adult Brain Tumor
|
Malignant Neoplasm Of Brain
|
|
Brain Neoplasms
|
Brain Neoplasm
|
|
Neoplasm Of Brain
|
Primary Malignant Neoplasm Of Brain
|
|
Brain Tumors
|
Adult Malignant Brain Neoplasm
|
|
Brain Neoplasm, Adult
|
Bt - Brain Tumour
|
|
Malignant Brain Tumour
|
Malignant Primary Brain Neoplasm
|
|
Malignant Primary Brain Tumor
|
Malignant Tumor Of Adult Brain
|
|
Malignant Tumor Of Brain
|
Primary Brain Neoplasm
|
|
Primary Brain Tumor
|
Tumor Of The Brain
|
|
Brain Tumor, Adult
|
Brain Tumor Primary
|
|
Malignant Primary Brain Tumors
|
Primary Brain Tumors
|
|
Cancer, Brain
|
Brain Tumor, Primary
|
|
|
| Obstructive Hydrocephalus |
|
|
| Fetal Alcohol Syndrome |
|
Fetal Alcohol Spectrum Disorders
|
Arbd
|
|
Arnd
|
Alcohol-Related Birth Defects
|
|
Alcohol-Related Neurodevelopmental Disorder
|
Fas
|
|
Fasd
|
Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk
|
|
Alcohol Related Birth Defect
|
Alcohol Related Neurodevelopmental Disorder
|
|
Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk
|
Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk
|
|
Dysmorphism Due To Alcohol
|
Fetal Etoh Syndrome
|
|
|
| Hemangioma |
|
|
| Embryonal Tumor With Multilayered Rosettes, C19mc-Altered |
|
|
| Glioblastoma |
|
Glioblastoma Multiforme
|
Gbm
|
|
Adult Glioblastoma Multiforme
|
Grade Iv Adult Astrocytic Tumor
|
|
Primary Glioblastoma Multiforme
|
Spongioblastoma Multiforme
|
|
Adult Glioblastoma
|
Primary Glioblastoma
|
|
|
| Holoprosencephaly 11 |
|
HPE11
|
Holoprosencephaly-11
|
|
Holoprosencephaly, Type 11
|
|
|
| Orofacial Cleft |
|
|
| 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
|
|
|
| Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
|
Exstrophy-Epispadias Complex
|
Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex
|
|
Beec
|
Eec
|
|
Exstrophy Of The Bladder
|
Bladder Exstrophy
|
|
Bladder Exstrophy And Epispadias Complex
|
|
|
| Cloacal Exstrophy |
|
Oeis Complex
|
Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome
|
|
Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl
|
Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex
|
|
Cloacal Exstrophy Sequence
|
Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect
|
|
Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects
|
Omphalocele Exstrophy Imperforate Anus
|
|
|
| Brachydactyly, Type A1 |
|
Brachydactyly Type A1
|
BDA1
|
|
Farabee-Type Brachydactyly
|
Farabee Type Brachydactyly
|
|
Brachydactyly Farabee Type
|
Brachydactyly, Farabee Type
|
|
Brachydactyly A1
|
Brachydactyly
|
|
|
| Rhabdomyosarcoma |
|
|
| Cerebral Ventricle Cancer |
|
Cerebral Ventricle Neoplasms
|
Cerebral Ventricle Neoplasm
|
|
Intraventricular Tumor Of Brain
|
|
|
| Supratentorial Cancer |
|
Supratentorial Neoplasms
|
Brain Neoplasm, Supratentorial
|
|
Malignant Supratentorial Tumor
|
Cancer, Supratentorial
|
|
|
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Fuhrmann Syndrome
|
Bowing Of The Femurs, Aplasia Or Hypoplasia Of The Fibula, And Digital Anomalies
|
|
Fibular Hypoplasia Or Aplasia-Femoral Bowing-Oligodactyly Syndrome
|
Fuhrmann-Rieger-De Sousa Syndrome
|
|
FUHRS
|
Fibular Aplasia
|
|
Hypoplasia Femoral Bowing And Poly- Syn- And Oligodactyly
|
|
|
| Central Nervous System Primitive Neuroectodermal Neoplasm |
|
|
| Pineoblastoma |
|
Pineal Pnet
|
Pinealoma
|
|
Pineal Gland Neoplasm
|
Pineocytoma
|
|
Tumor Of The Pineal Region
|
|
|
| Cerebrum Cancer |
|
Cerebral Cancer
|
Neoplasm Of Cerebrum
|
|
Tumor Of Cerebrum
|
Malignant Neoplasm Of Cerebrum
|
|
|
| Micronodular Basal Cell Carcinoma |
|
Skin Micronodular Basal Cell Carcinoma
|
Basal Cell Carcinoma, Micronodular
|
|
|
| Chromosomal Duplication Syndrome |
|
|
| Anus Disease |
|
Anal Fissure
|
Ulcer Of Anus
|
|
Anus Diseases
|
Anal Disease
|
|
Anal Fissure And Fistula
|
Anal Ulcer
|
|
Fissure In Ano
|
Nontraumatic Tear Of Anus
|
|
Solitary Anal Ulcer
|
Abnormality Of The Anus
|
|
Anal Disorders
|
Ulcer Of Anus And Rectum
|
|
Solitary Ulcer Of Anus
|
Stercoral Ulcer Of Anus
|
|
|
| Duodenal Atresia |
|
Duodenal Stenosis
|
Familial Duodenal Atresia
|
|
|
| Androgenic Alopecia |
|
Androgenetic Alopecia
|
Alopecia Androgenetica, Male Pattern Baldness
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Cerebrovascular Benign Neoplasm |
|
|
| Pineal Gland Cancer |
|
Tumor Of The Pineal Region
|
Malignant Pineal Region Tumor
|
|
Malignant Tumor Of Pineal Gland
|
Neoplasm Of Pineal Gland
|
|
Neoplasm Of The Pineal Region
|
Pineal Body Neoplasm
|
|
Pineocytic Tumor
|
Malignant Neoplasm Of Pineal Gland
|
|
Pineal Gland Neoplasm
|
Pineocytoma
|
|
|
| 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
|
|
|
| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
|
Pervasive Development Disorder
|
Autistic Behavior
|
|
Autistic Disorder
|
Autistic
|
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
|
Childhood Autism
|
Kanner Syndrome
|
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
| Vulva Basal Cell Carcinoma |
|
Basal Cell Carcinoma Of Vulva
|
Basal Cell Carcinoma Of The Vulva
|
|
|
| Omphalocele |
|
Omphalocoele
|
Congenital Omphalocele
|
|
Exomphalos
|
Exumbilication
|
|
|
| Synostosis |
|
|
| Tracheomalacia |
|
Congenital Tracheomalacia
|
Congenital Major Airway Collapse
|
|
Tracheomalacia, Congenital
|
Type 1 Tracheomalacia
|
|
|
| Microphthalmia, Syndromic 3 |
|
MCOPS3
|
Aeg Syndrome
|
|
Microphthalmia And Esophageal Atresia Syndrome
|
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
|
|
Anophthalmia-Esophageal-Genital Syndrome
|
Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System
|
|
Syndromic Microphthalmia 3
|
Sox2 Anophthalmia Syndrome
|
|
Anophthalmia Clinical With Associated Anomalies
|
Anophthalmia Esophageal Genital Syndrome
|
|
Anophthalmia Microphthalmia Esophageal Atresia
|
Syndromic Microphthalmia Type 3
|
|
Sox2-Related Eye Disorders
|
Anophthalmia, Clinical, With Associated Anomalies
|
|
Syndromic Microphthalmia, Type 3
|
Microphthalmia, Syndromic, 3
|
|
Anophthalmia/Microphthalmia-Esophageal Atresia
|
Microphthalmia Syndromic, Type 3
|
|
|
| Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Hypohidrotic Ectodermal Dysplasia
|
Hed
|
|
Anhidrotic Ectodermal Dysplasia
|
Ectodermal Dysplasia, Hypohidrotic
|
|
Eda
|
Christ-Siemens-Touraine Syndrome
|
|
ECTD10B
|
Ectodermal Dysplasia Anhidrotic
|
|
Ectodermal Dysplasia, Anhidrotic
|
Cst Syndrome
|
|
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive
|
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
|
|
Dysplasia, Ectodermal, Hypohidrotic
|
Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
|
|
Ectodermal Dysplasia 3, Anhidrotic
|
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
|
|
|
| Bone Development Disease |
|
|
| 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
|
|
|
| Townes-Brocks Syndrome |
|
Townes Syndrome
|
Renal-Ear-Anal-Radial Syndrome
|
|
Anus, Imperforate, With Hand, Foot And Ear Anomalies
|
Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome
|
|
Rear Syndrome
|
Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs
|
|
Tbs
|
Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs
|
|
Imperforate Anus With Hand, Foot And Ear Anomalies
|
Anal-Ear-Renal-Radial Malformation Syndrome
|
|
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome
|
Imperforate Anus-Hand And Foot Anomalies Syndrome
|
|
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome
|
Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
|
|
|
| Meningocele |
|
Isolated Spina Bifida
|
Spina Bifida
|
|
Cleft Spine
|
Open Spine
|
|
Rachischisis
|
Spinal Dysraphism
|
|
Spinal Meningocele
|
Congenital Meningocele
|
|
|
| Rhabdoid Cancer |
|
Rhabdoid Tumor
|
Malignant Rhabdoid Tumor
|
|
Malignant Rhabdoid Tumour
|
Rhabdoid Sarcoma
|
|
Rhabdoid Tumor Predisposition Syndrome 1
|
Rhabdoid Tumor Predisposition Syndrome 2
|
|
Atypical Teratoid Rhabdoid Tumor
|
Brain Tumor, Posterior Fossa, Of Infancy, Familial
|
|
Atypical Teratoid/Rhabdoid Tumor
|
|
|
| Mutism |
|
|
| Synpolydactyly |
|
Syndactyly Type 2
|
Syndactyly, Type 2
|
|
Spd
|
|
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Orofaciodigital Syndrome Viii |
|
Edwards Syndrome
|
Trisomy 18
|
|
Complete Trisomy 18 Syndrome
|
OFD8
|
|
Orofaciodigital Syndrome 8
|
Trisomy 18 Syndrome
|
|
Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis
|
E3 Trisomy
|
|
Oral-Facial-Digital Syndrome Type 8
|
Orofaciodigital Syndrome Type 8
|
|
Ofds Viii
|
Oral-Facial-Digital Syndrome, Type Viii
|
|
Ofd Syndrome 8
|
Ofds 8
|
|
Oral Facial Digital Syndrome 8
|
Oral Facial Digital Syndrome Type 8
|
|
18 Trisomy
|
Chromosome 18 Trisomy
|
|
Trisomy 16-18
|
Trisomy E
|
|
Trisomy E Syndrome
|
Chromosome 18 Duplication
|
|
Oral-Facial-Digital Syndrome, Edwards Type
|
Orofaciodigital Syndrome, Edwards Type
|
|
Chromosome 18, Trisomy
|
Cleft Lip/Palate With Abnormal Thumbs And Microcephaly
|
|
Trisomy 18 Chromosome
|
Abnormal Autosomes 18
|
|
|
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Christ-Siemens-Touraine Syndrome
|
XHED
|
|
Ectodermal Dysplasia 1
|
Xlhed
|
|
Ed1
|
Cst Syndrome
|
|
Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked
|
Ectd1
|
|
Ectodermal Dysplasia, Anhidrotic, X-Linked
|
Eda
|
|
Eda1
|
Hed1
|
|
Ectodermal Dysplasia 1, Anhidrotic
|
X-Linked Anhidrotic Ectodermal Dysplasia
|
|
X-Linked Hypohidrotic Ectodermal Dysplasia
|
Hypohidrotic X-Linked Ectodermal Dysplasia
|
|
Ectodermal Dysplasia, Hypohidrotic, 1
|
Hypohidrotic Ectodermal Dysplasia, X-Linked
|
|
Anhidrotic Ectodermal Dysplasia X-Linked
|
Hypohidrotic Ectodermal Dysplasia X-Linked
|
|
Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked
|
Ectodermal Dysplasia Anhidrotic
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Diaphragm Disease |
|
Abnormality Of The Diaphragm
|
Disease Of Diaphragm
|
|
Diaphragmatic Disorder
|
Disorder Of Diaphragm
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| Dysostosis |
|
|
| Tracheal Disease |
|
Tracheal Diseases
|
Tracheal Anomaly
|
|
Tracheal Disorders
|
|
|
| Rectal Disease |
|
Rectal Diseases
|
Rectal Disorders
|
|
|
| Feingold Syndrome 1 |
|
Feingold Syndrome
|
Oculodigitoesophagoduodenal Syndrome
|
|
Oded Syndrome
|
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome
|
|
Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum
|
FGLDS1
|
|
Mmt Syndrome
|
Brunner-Winter Syndrome
|
|
Feingold Syndrome Type 1
|
Oded
|
|
Moded
|
Fglds
|
|
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome
|
Moded Syndrome
|
|
Oculo-Digito-Esophageal-Duodenal Syndrome
|
Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome
|
|
Microcephaly And Digital Abnormalities With Normal Intelligence
|
Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus, Or Duodenum
|
|
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome
|
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome
|
|
Oculo-Digito-Esophagoduodental Syndrome
|
Fs
|
|
Mmt
|
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome
|
|
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome
|
Brunner-Winter Syndrome Type 1
|
|
Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Type 1
|
Fs1
|
|
Mmt Type 1
|
Moded Syndrome Type 1
|
|
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1
|
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1
|
|
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1
|
Oded Syndrome Type 1
|
|
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1
|
Feingold Syndrome, Type 1
|
|
|
| Diffuse Midline Glioma, H3 K27m-Mutant |
|
Diffuse Intrinsic Pontine Glioma
|
Dipg
|
|
Infiltrative Brainstem Glioma
|
|
|
| Skeletal Muscle Cancer |
|
Malignant Tumor Of Skeletal Muscle
|
Skeletal Muscle Neoplasm
|
|
|
| Atrioventricular Septal Defect |
|
AVSD
|
Atrioventricular Canal Defect
|
|
Avcd
|
Endocardial Cushion Defect
|
|
Ecd
|
Avc Defect
|
|
Atrioventricular Septal Defect, Susceptibility To, 1
|
Atrioventricular Septal Defect 1
|
|
Endocardial Cushion Defects
|
Septal Defect, Atrioventricular
|
|
Atrioventricular Defect With Atrial Shunting Only
|
Incomplete Atrioventricular Septal Defect With Isolated Atrial Component
|
|
Incomplete Atrioventricular Canal Defect With Isolated Atrial Component
|
Primum Atrial Septal Defect
|
|
Partial Atrioventricular Canal Defect With Isolated Atrial Component
|
Partial Atrioventricular Septal Defect, Ostium Primum Type
|
|
Ostium Primum Atrial Septal Defect
|
Partial Atrioventricular Canal Defect
|
|
Partial Atrioventricular Septal Defect
|
Atrial Septum Primum Defect
|
|
Atrioventricular Canal Defect With Isolated Ventricular Component
|
Atrioventricular Canal Defect With Isolated Ventricular Communication
|
|
Atrioventricular Septal Defect With Isolated Ventricular Component
|
Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting
|
|
Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve
|
Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves
|
|
Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect
|
Intermediate Atrioventricular Canal Defect
|
|
Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices
|
Intermediate Atrioventricular Septal Defect
|
|
Transitional Atrioventricular Canal Defect
|
Transitional Atrioventricular Septal Defect
|
|
Complete Atrioventricular Canal With Atrial And Ventricular Components
|
Complete Atrioventricular Canal Defect
|
|
Complete Atrioventricular Septal Defect
|
|
|
| Joubert Syndrome 8 |
|
JBTS8
|
Joubert Syndrome, Type 8
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Li-Fraumeni Syndrome |
|
Sarcoma Family Syndrome Of Li And Fraumeni
|
Sbla Syndrome
|
|
LFS
|
Li-Fraumeni Familiar Cancer Susceptibility Syndrome
|
|
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome
|
Lfs1
|
|
Li Fraumeni Syndrome
|
Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
|
|
Lfl
|
Sbla Syndrome Li-Fraumeni-Like Syndrome
|
|
Li-Fraumeni Syndrome 1
|
|
|
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies
|
CPCMR
|
|
Cleft Palate, Cardiac Defects, And Intellectual Disabillity
|
Cleft Palate, Cardiac Defects, And Intellectual Disability
|
|
Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies
|
|
|
| Fanconi Renotubular Syndrome 1 |
|
Renal Fanconi Syndrome
|
Adult Fanconi Syndrome
|
|
FRTS1
|
Fanconi Renotubular Syndrome
|
|
Frts
|
Rfs
|
|
Fanconi Syndrome Without Cystinosis
|
Luder-Sheldon Syndrome
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Diaphragmatic Hernia, Congenital |
|
Congenital Diaphragmatic Hernia
|
Diaphragmatic Hernia
|
|
Cdh
|
Congenital Diaphragmatic Defect
|
|
Hernia, Diaphragmatic
|
Dih
|
|
Hernia, Congenital Diaphragmatic
|
Hcd
|
|
Diaphragmatic Defect, Congenital
|
Diaphragm, Unilateral Agenesis Of
|
|
Hemidiaphragm, Agenesis Of
|
Diaphragmatic Hernia 1
|
|
Agenesis Of Hemidiaphragm
|
Unilateral Agenesis Of Diaphragm
|
|
Hernia Diaphragmatic
|
Hernia Diaphragmatic Congenital
|
|
Hernia, Diaphragmatic, Type 1
|
Hiatus Hernia
|
|
Oesophageal Hiatus Hernia
|
Paraoesophageal Hernia
|
|
Sliding Hiatus Hernia
|
Congenital Diaphragm Hernia
|
|
Congenital Diaphragm Defect With Hernia
|
Gross Congenital Diaphragm Defect
|
|
|
| Chromosomal Disease |
|
Chromosomal Disorders
|
Congenital Chromosomal Disease
|
|
|
| Spastic Paraplegia 76, Autosomal Recessive |
|
SPG76
|
Autosomal Recessive Spastic Paraplegia Type 76
|
|
Hereditary Spastic Paraplegia 76
|
Autosomal Recessive Spastic Paraplegia 76
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 76
|
|
|
| Neuroblastoma |
|
Nb
|
Neuroblastoma, Susceptibility To
|
|
Neuroblastomas
|
Central Neuroblastoma
|
|
|
| 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
|
|
|
| Gastric Cancer |
|
Stomach Cancer
|
Gastric Carcinoma
|
|
Stomach Carcinoma
|
Gastric Cancer, Somatic
|
|
Gastric Neoplasm
|
Carcinoma Of Stomach
|
|
Stomach Neoplasms
|
Malignant Neoplasm Of Stomach
|
|
Gastric Cancer Risk After H. Pylori Infection
|
Cancer Of The Stomach
|
|
Adult Stomach Cancer
|
Adult Stomach Carcinoma
|
|
GASC
|
Gastric Cancer Intestinal
|
|
Gastric Cancers
|
Gastric Carcinomas
|
|
Cancer, Gastric
|
Stomach Neoplasm
|
|
Malignant Neoplasm Of Body Of Stomach
|
Malignant Tumor Of Lesser Curve Of Stomach
|
|
Gastrocarcinoma Of Unspecified Site
|
Leather Bottle Stomach
|
|
Carcinoma Of Fundus Of Stomach
|
Cancer Of Fundus Of Stomach
|
|
Primary Malignant Neoplasm Of Body Of Stomach
|
Cancer Of Body Of Stomach
|
|
Primary Malignant Neoplasm Of Pyloric Antrum
|
Pyloric Antrum Cancer
|
|
Malignant Tumour Of Stomach
|
|
|
| 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
|
|
|
| Trachea Leiomyoma |
|
Tracheal Neoplasms
|
Leiomyoma Of The Trachea
|
|
Tracheal Neoplasm
|
Tracheal Leiomyoma
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| 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
|
|
|
| Joubert Syndrome 32 |
|
|
| Visceral Heterotaxy |
|
Situs Ambiguus
|
Heterotaxia
|
|
Heterotaxy Syndrome
|
Heterotaxy
|
|
Lateralization Defect
|
Situs Ambiguous
|
|
Left Isomerism
|
Htx
|
|
Ivemark Syndrome
|
Right Isomerism
|
|
Situs Ambiguus Viscerum
|
Incomplete Situs Inversus
|
|
Partial Situs Inversus
|
Heterotaxy, Visceral
|
|
Asplenia Syndrome
|
Bilateral Left-Sidedness
|
|
Polysplenia Syndrome
|
Moller Syndrome
|
|
|
| Aniridia 1 |
|
Aniridia
|
Congenital Aniridia
|
|
AN1
|
An
|
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
|
Absent Iris
|
Irideremia
|
|
Aniridia Ii, Formerly
|
An2, Formerly
|
|
An2
|
Aniridia Type Ii
|
|
Aniridia, Type 1
|
An-1
|
|
Absence Of Iris
|
Agenesis Of Iris
|
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
|
Sporadic Aniridia
|
|
|
| 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
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| 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
|
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| Cystic Kidney Disease |
|
Renal Cyst
|
Simple Renal Cyst
|
|
Kidney Cysts
|
Kidney Diseases, Cystic
|
|
Renal Cysts
|
Kidney Cyst
|
|
Cystic Kidney
|
Congenital Cystic Kidney Disease
|
|
Cystic Kidney Diseases
|
Bosniak 1 Cyst
|
|
|
| Asphyxiating Thoracic Dystrophy |
|
Jeune Thoracic Dystrophy
|
Jeune Syndrome
|
|
Asphyxiating Thoracic Dysplasia
|
Short-Rib Thoracic Dysplasia With Or Without Polydactyly
|
|
Thoracic Pelvic Phalangeal Dystrophy
|
Asphyxiating Thoracic Chondrodystrophy
|
|
Atd
|
Chondroectodermal Dysplasia-Like Syndrome
|
|
Infantile Thoracic Dystrophy
|
Jeune Thoracic Dysplasia
|
|
Thoracic Asphyxiant Dystrophy
|
Thoracic-Pelvic-Phalangeal Dystrophy
|
|
Short-Rib Thoracic Dysplasia Without Polydactyly
|
Asphyxiating Thoracic Dystrophy Of The Newborn
|
|
Asphyxiating Thorax Dystrophy
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Hirschsprung Disease 1 |
|
Hirschsprung Disease
|
Aganglionic Megacolon
|
|
Hscr
|
Hirschsprung'S Disease
|
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
|
Mgc
|
Pelvirectal Achalasia
|
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
|
Macrocolon
|
Hscr 1
|
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
|
Hirschsprung Megacolon
|
|
|
| Situs Inversus |
|
Situs Inversus Viscerum
|
Laterality Sequence
|
|
Complete Transposition
|
Siv
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Polycystic Kidney Disease |
|
Polycystic Kidney Diseases
|
Pkd
|
|
Polycystic Renal Disease
|
Kidney Disease, Polycystic
|
|
Polycystic Kidney, Autosomal Dominant
|
|
|
| Meningioma, Familial |
|
Meningioma
|
Familial Meningioma
|
|
Meningioma, Familial, Susceptibility To
|
Meningeal Neoplasm
|
|
Meningeal Neoplasms
|
Meningiomas
|
|
Meningioma, Nf2-Related, Somatic
|
Meningioma, Sis-Related
|
|
Meningothelial Cell Tumor
|
Neoplasm Of The Meninges
|
|
Primary Meningeal Tumor
|
Familial Multiple Meningioma
|
|
MNGMA
|
Meningioma, Benign, No Icd-O Subtype
|
|
Intracranial Meningioma
|
Meningothelial Cell Neoplasm
|
|
Supratentorial Meningioma
|
Primary Neoplasm Of Spinal Meninges
|
|
Benign Intracranial Meningioma
|
Benign Meningioma
|
|
Meningeal Tumours
|
Meningeal Sarcoma Of Unspecified Site
|
|
Meningothelial Sarcoma Of Unspecified Site
|
|
|
| Tetralogy Of Fallot |
|
TOF
|
Fallot Tetralogy
|
|
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
|
Tetrad Of Fallot
|
|
Fallot Tetrad
|
Fallot Disease
|
|
Fallot Complex
|
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
|
|
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
|
Interventricular Septal Defect, In Tetralogy Of Fallot
|
|
Ventricular Septal Defect With Obstructed Right Ventricular Outflow
|
Tof - [Tetralogy Of Fallot]
|
|
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
|
Pulmonary Atresia, Ventricular Septal Defect And Mapcas
|
|
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
|
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
|
Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
|
Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
|
Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
|
Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
|
Bilateral Ectopic Testes
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Rasopathy |
|
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
| Primary Ciliary Dyskinesia |
|
Immotile Cilia Syndrome
|
Kartagener Syndrome
|
|
Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
|
Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
|
Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
|
Ics
|
Polynesian Bronchiectasis
|
|
Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
|
Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
|
Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
