| 疾病名称 |
别名 |
|
| 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
|
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| Brachydactyly, Type A1 |
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Brachydactyly Type A1
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BDA1
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Farabee-Type Brachydactyly
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Farabee Type Brachydactyly
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Brachydactyly Farabee Type
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Brachydactyly, Farabee Type
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Brachydactyly A1
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Brachydactyly
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| Focal Dermal Hypoplasia |
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Goltz Syndrome
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Goltz-Gorlin Syndrome
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FDH
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FODH
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Dhof
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Goltz Gorlin Syndrome
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Hypoplasia, Dermal, Focal
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| Joubert Syndrome 32 |
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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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| Physical Disorder |
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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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| Ohdo Syndrome |
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Young Simpson Syndrome
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Ohdo Blepharophimosis Syndrome
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Blepharophimosis Syndrome Ohdo Type
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Blepharophimosis Intellectual Disability Syndromes
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Bmrs
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Blepharophimosis-Intellectual Disability Syndrome
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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 |
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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 |
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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 |
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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 |
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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 |
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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
|
Meningeal Sarcoma Of Unspecified Site
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Meningothelial Sarcoma Of Unspecified Site
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|
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| Orofaciodigital Syndrome Vi |
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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
|
Joubert Syndrome With Oral-Facial-Digital Syndrome
|
|
Oral-Facial-Digital Syndrome 6
|
Joubert-Orofaciodigital Syndrome
|
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Orofaciodigital Syndrome, Type Vi
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|
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| Charge Syndrome |
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Charge Association
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Hall-Hittner Syndrome
|
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Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
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Hhs
|
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Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
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Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
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CHARGES
|
|
|
| Orofacial Cleft |
|
|
| Asphyxiating Thoracic Dystrophy |
|
Jeune Thoracic Dystrophy
|
Jeune Syndrome
|
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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
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| 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
|
|
|
| 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
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| 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
|
|
|
