Diseases |
Alias |
|
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
|
|
|
Polydactyly, Postaxial, Type A1 |
Postaxial Polydactyly Type A
|
Polydactyly, Postaxial
|
Postaxial Polydactyly
|
PAPA1
|
Postaxial Polydactyly, Type A
|
Papa
|
Polydactyly, Postaxial, Types A1 And B
|
Postaxial Polydactyly Type B
|
Polydactyly Postaxial
|
Polydactyly, Postaxial A1
|
Polydactyly, Postaxial B
|
PAPB
|
Postaxial Polydactyly, Type A1/B
|
Polydactyly, Postaxial, Type A
|
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
|
Postaxial Polydactyly, Type B
|
|
|
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
|
|
|
Polydactyly, Preaxial Iv |
Polysyndactyly
|
PPD4
|
Polydactyly, Preaxial, Type Iv
|
Preaxial Polydactyly Type 4
|
Polysyndactyly, Uncomplicated
|
Polysyndactyly Uncomplicated
|
Crossed Polydactyly Type 1
|
Polydactyly Preaxial 4
|
Preaxial Polydactyly 4
|
Polydactyly, Preaxial 4
|
Type Iv Preaxial Polydactyly
|
Polysyndactyly Syndrome
|
Syndactyly Of Multiple And Unspecified Sites
|
Syndactyly Of Multiple Digits
|
|
|
Tibial Hemimelia |
Tibia, Absence Of
|
Congenital Absence Of Tibia
|
Thm
|
Absence Of Tibia
|
Bilateral Absence Of The Tibia
|
Congenital Aplasia And Dysplasia Of The Tibia With Intact Fibula
|
Congenital Longitudinal Deficiency Of The Tibia
|
Tibial Longitudinal Meromelia
|
Longitudinal Reduction Defect Of Tibia
|
Agenesis Of Tibia
|
Congenital Absence Of Tibia With Or Without Absence Of Some Distal Elements
|
Congenital Absence Of Tibia With Or Without Absence Of Some, But Not All, Distal Elements
|
|
|
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
|
|
|
|
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
|
|
|
Umbilical Hernia |
|
|
Polydactyly |
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
Postaxial Polydactyly
|
Supernumerary Digit
|
Extra Digits
|
Hyperdactyly
|
Polydactylia
|
Polydactylism
|
Supernumerary Digits
|
|
|
Ptosis |
Blepharoptosis
|
Drooping Eyelid
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
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
|
|
|
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
|
|
|
Holzgreve Syndrome |
Holzgreve-Wagner-Rehder Syndrome
|
Holzgreve Wagner Rehder Syndrome
|
Complex Congenital Heart Defect, Renal Agenesis And Cleft Lip And Palate
|
Cleft Palate-Potter Sequence-Congenital Heart Anomalies-Mesoaxial Polydactyly-Multiple Malformations Syndrome
|
|
|
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
|
|
|
Mckusick-Kaufman Syndrome |
MKKS
|
Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation
|
Hmcs
|
Kaufman-Mckusick Syndrome
|
Hydrometrocolpos Syndrome
|
Hydrometrocolpos-Postaxial Polydactyly Syndrome
|
Kaufman Mckusick Syndrome
|
Mckusick Kaufman Syndrome
|
Mks
|
|
|
Culler-Jones Syndrome |
Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome
|
CJS
|
Pallister-Hall Syndrome 2, Formerly
|
Phs2, Formerly
|
Pallister-Hall Syndrome 2
|
Phs2
|
|
|
Anus, Imperforate |
Imperforate Anus
|
Anorectal Malformation
|
Anal Atresia
|
Anorectal Malformations
|
Congenital Atresia Of Anus
|
Congenital Or Infantile Occlusion Of Anus
|
Anal Stenosis
|
Arm
|
|
|
Holoprosencephaly 9 |
Pituitary Anomalies With Holoprosencephaly-Like Features
|
HPE9
|
Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies
|
Holoprosencephaly-9
|
Holoprosencephaly, Type 9
|
|
|
Orofaciodigital Syndrome Vii |
OFD7
|
Whelan Syndrome
|
Ofds Vii
|
Oral-Facial-Digital Syndrome, Type Vii
|
|
|
Holoprosencephaly |
Holoprosencephaly Sequence
|
Hpe
|
Hpe - [Holoprosencephaly]
|
|
|
Carpenter Syndrome 1 |
Carpenter Syndrome
|
Acrocephalopolysyndactyly Type Ii
|
Acps Ii
|
CRPT1
|
Acrocephalopolysyndactyly Type 2
|
Acrocephalosyndactyly, Type Ii
|
Acrocephalopolysyndactyly 2
|
Acps2
|
Acps 2
|
Type Ii Acrocephalosyndactyly
|
Carpenter Syndrome, Type 1
|
Apert-Crouzon Disease
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Holoprosencephaly 3 |
HPE3
|
Hlp3
|
Holoprosencephaly-3
|
Holoprosencephaly, Type 3
|
|
|
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
|
|
|
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
|
|
|
Vacterl Association |
Vater Association
|
Vater Syndrome
|
|
|
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
|
|
|
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
|
|
|
Infratentorial Cancer |
Infratentorial Neoplasms
|
Brain Neoplasm, Infratentorial
|
Malignant Infratentorial Tumors
|
|
|
Rectal Disease |
Rectal Diseases
|
Rectal Disorders
|
|
|
Bardet-Biedl Syndrome |
Bbs
|
Biedl-Bardet Syndrome
|
|
|
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
|
|
|
Bone Development Disease |
|
|
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
|
|
|
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
|
|
|
Synostosis |
|
|
Hypertelorism |
Eyes Wide Apart
|
Eyes Widely Set
|
Hypertelorism Of Orbit
|
Ocular Hypertelorism
|
Orbital Separation Excessive
|
|
|
Synpolydactyly |
Syndactyly Type 2
|
Syndactyly, Type 2
|
Spd
|
|
|
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
|
|
|
Orofaciodigital Syndrome |
Oral-Facial-Digital Syndrome
|
Orofaciodigital Syndromes
|
Ofd
|
Oral Facial Digital Syndromes
|
Oral-Facial-Digital Syndromes
|
Dysplasia Linguofacialis
|
Ofds
|
Oro-Facio-Digital Syndrome
|
Orodigitofacial Dysostosis
|
Orodigitofacial Syndrome
|
Oral Facial Digital Syndrome
|
Orofaciodigital Syndrome I
|
|
|
Acrocapitofemoral Dysplasia |
ACFD
|
Dysplasia, Acrocapitofemoral
|
|
|
Skin Tag |
Fibroepithelial Polyp
|
Fibroepithelial Polyp Of Skin
|
Soft Fibroma
|
Skin Tags
|
Cutaneous Tag
|
Gardner Fibroma
|
Acrochordon
|
Fibroma Molle
|
|
|
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
|
|
|
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
|
|
|
Ulnar-Mammary Syndrome |
Schinzel Syndrome
|
UMS
|
Pallister Ulnar-Mammary Syndrome
|
Ulnar-Mammary Syndrome Of Pallister
|
|
|
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
Kallmann Syndrome 2
|
Kal2
|
HH2
|
Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
|
|
|
Dysostosis |
|
|
Ellis-Van Creveld Syndrome |
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
EVC
|
Ellis Van Creveld Syndrome
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
Brachydactyly, Type A1 |
Brachydactyly Type A1
|
BDA1
|
Farabee-Type Brachydactyly
|
Farabee Type Brachydactyly
|
Brachydactyly Farabee Type
|
Brachydactyly, Farabee Type
|
Brachydactyly A1
|
Brachydactyly
|
|
|
Focal Dermal Hypoplasia |
Goltz Syndrome
|
Goltz-Gorlin Syndrome
|
FDH
|
FODH
|
Dhof
|
Goltz Gorlin Syndrome
|
Hypoplasia, Dermal, Focal
|
|
|
Joubert Syndrome 32 |
|
|
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
|
|
|
Physical Disorder |
|
|
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
|
|
|
Ohdo Syndrome |
Young Simpson Syndrome
|
Ohdo Blepharophimosis Syndrome
|
Blepharophimosis Syndrome Ohdo Type
|
Blepharophimosis Intellectual Disability Syndromes
|
Bmrs
|
Blepharophimosis-Intellectual Disability Syndrome
|
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth
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Sbbys Syndrome
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Say Barber Biesecker Young-Simpson Syndrome
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Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
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Bmrs, Ohdo Type
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Blepharophimosis Syndrome, Ohdo Type
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Ohdo-Madokoro-Sonoda Syndrome
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Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
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Blepharophimosis - Intellectual Disability Syndrome
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Cleft Palate, Isolated |
Cleft Palate
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Isolated Cleft Palate
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CPI
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Cp
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Palatoschisis
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Cleft Palate Isolated
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Uranostaphyloschisis
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Congenital Fissure Of Palate
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Cleft Of Secondary Palate
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Opitz-Kaveggia Syndrome |
Fg Syndrome
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Fgs1
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Fgs
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Keller Syndrome
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OKS
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Fg Syndrome 1
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Fg Syndrome Type 1
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Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
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Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
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Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
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Cranioectodermal Dysplasia |
Sensenbrenner Syndrome
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Levin Syndrome 1
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Ced
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Levin Syndrome
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Dysplasia, Cranioectodermal
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Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
Majewski Syndrome
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SRTD6
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Srps2a
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Short Rib-Polydactyly Syndrome, Majewski Type
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Polydactyly With Neonatal Chondrodystrophy, Type Ii
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Short Rib-Polydactyly Syndrome Type Iia
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Short Rib-Polydactyly Syndrome Type 2
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Short Rib-Polydactyly Syndrome Type Ii
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Short Rib-Polydactyly Syndrome, Type Ii
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Srps, Type Ii
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Short Rib-Polydactyly Syndrome, Type Iia
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Polydactyly With Neonatal Chondrodystrophy Type 2
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Srps Type 2
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Short Rib-Polydactyly Syndrome Majewski Type
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Polydactyly With Neonatal Chondrodystrophy Type Ii
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Short Rib-Polydactyly Syndrome 2a
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Srps Type Ii
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Chromosomal Duplication Syndrome |
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Meningioma, Familial |
Meningioma
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Familial Meningioma
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Meningioma, Familial, Susceptibility To
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Meningeal Neoplasm
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Meningeal Neoplasms
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Meningiomas
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Meningioma, Nf2-Related, Somatic
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Meningioma, Sis-Related
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Meningothelial Cell Tumor
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Neoplasm Of The Meninges
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Primary Meningeal Tumor
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Familial Multiple Meningioma
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MNGMA
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Meningioma, Benign, No Icd-O Subtype
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Intracranial Meningioma
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Meningothelial Cell Neoplasm
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Supratentorial Meningioma
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Primary Neoplasm Of Spinal Meninges
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Benign Intracranial Meningioma
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Benign Meningioma
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Meningeal Tumours
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Meningeal Sarcoma Of Unspecified Site
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Meningothelial Sarcoma Of Unspecified Site
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Orofaciodigital Syndrome Vi |
OFD6
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Varadi-Papp Syndrome
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Varadi Syndrome
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Joubert Syndrome With Orofaciodigital Defect
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Orofaciodigital Syndrome Type 6
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Orofaciodigital Syndrome 6
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Oral-Facial-Digital Syndrome, Type Vi
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Ofds Vi
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Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation
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Polydactyly Cleft Lip Palate Psychomotor Retardation
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Oral-Facial-Digital Syndrome Type 6
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Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
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Polydactyly - Cleft Lip/Palate - Psychomotor Retardation
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Váradi Syndrome
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Váradi-Papp Syndrome
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Joubert Syndrome With Oral-Facial-Digital Syndrome
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Oral-Facial-Digital Syndrome 6
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Joubert-Orofaciodigital Syndrome
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Orofaciodigital Syndrome, Type Vi
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Charge Syndrome |
Charge Association
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Hall-Hittner Syndrome
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Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
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Hhs
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Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
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Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
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CHARGES
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Orofacial Cleft |
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Asphyxiating Thoracic Dystrophy |
Jeune Thoracic Dystrophy
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Jeune Syndrome
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Asphyxiating Thoracic Dysplasia
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Short-Rib Thoracic Dysplasia With Or Without Polydactyly
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Thoracic Pelvic Phalangeal Dystrophy
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Asphyxiating Thoracic Chondrodystrophy
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Atd
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Chondroectodermal Dysplasia-Like Syndrome
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Infantile Thoracic Dystrophy
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Jeune Thoracic Dysplasia
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Thoracic Asphyxiant Dystrophy
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Thoracic-Pelvic-Phalangeal Dystrophy
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Short-Rib Thoracic Dysplasia Without Polydactyly
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Asphyxiating Thoracic Dystrophy Of The Newborn
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Asphyxiating Thorax Dystrophy
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Tooth Agenesis |
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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Joubert Syndrome 1 |
Joubert Syndrome
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Jbts
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Cerebellooculorenal Syndrome 1
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JBTS1
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Joubert-Boltshauser Syndrome
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Cerebelloparenchymal Disorder Iv
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Cpd4
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Cors1
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Joubert Syndrome And Related Disorders
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Jsrd
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Familial Aplasia Of The Vermis
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Joubert Syndrome Related Disorders
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Js
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Cerebellar Vermis Agenesis
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Cerebelloparenchymal Disorder 4
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Agenesis Of Cerebellar Vermis
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Cerebello-Oculo-Renal Syndrome
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Cors
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Joubert-Bolthauser Syndrome
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Cpd Iv
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Classic Joubert Syndrome
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Joubert Syndrome Type A
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Pure Joubert Syndrome
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Cerebello-Oculo-Renal Syndrome 1
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Joubert Syndrome-1
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Joubert Syndrome, Type 1
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Joubert'S Syndrome
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Cryptorchidism, Unilateral Or Bilateral |
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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Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
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Nephronophthisis |
Medullary Cystic Disease
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Medullary Cystic Kidney
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Nph
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Nphp
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Kidney Disease, Cystic, Medullary
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Visceral Heterotaxy |
Situs Ambiguus
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Heterotaxia
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Heterotaxy Syndrome
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Heterotaxy
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Lateralization Defect
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Situs Ambiguous
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Left Isomerism
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Htx
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Ivemark Syndrome
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Right Isomerism
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Situs Ambiguus Viscerum
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Incomplete Situs Inversus
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Partial Situs Inversus
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Heterotaxy, Visceral
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Asplenia Syndrome
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Bilateral Left-Sidedness
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Polysplenia Syndrome
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Moller Syndrome
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