| 疾病名称 |
别名 |
|
| Treacher Collins Syndrome 1 |
|
Treacher Collins Syndrome
|
Mandibulofacial Dysostosis
|
|
Treacher Collins-Franceschetti Syndrome
|
Tcof
|
|
Tcs
|
Mfd1
|
|
Franceschetti-Klein Syndrome
|
TCS1
|
|
Franceschetti Syndrome
|
Franceschetti-Zwahlen-Klein Syndrome
|
|
Zygoauromandibular Dysplasia
|
Treacher-Collins Syndrome
|
|
Mandibulofacial Dysostosis Without Limb Anomalies
|
Bilateral And Symmetric Oto-Mandibular Dysplasia
|
|
|
| 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
|
|
|
| Microtia |
|
Congenital Small Ears
|
Hypoplasia Of Ear
|
|
|
| Dysostosis |
|
|
| Treacher Collins Syndrome 2 |
|
|
| Acrofacial Dysostosis, Cincinnati Type |
|
Acrofacial Dysostosis Cincinnati Type
|
AFDCIN
|
|
Dysostosis, Acrofacial, Cincinnati Type
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Postaxial Acrofacial Dysostosis |
|
Miller Syndrome
|
POADS
|
|
Genee-Wiedemann Syndrome
|
Postaxial Acrodysostosis
|
|
Genee-Wiedemann Acrofacial Dysostosis
|
Acrofacial Dysostosis, Genee-Wiedmann Type
|
|
Mandibulfacial Dysostosis With Postaxial Limb Anomalies
|
Gwafd
|
|
Poads Syndrome
|
Postaxial Acrofacial Dysostosis Syndrome
|
|
Wildervanck-Smith Syndrome
|
Acrofacial Dysostosis, Genee-Wiedemann Type
|
|
Mandibulofacial Dysostosis With Postaxial Limb Anomalies
|
Genée-Wiedemann Syndrome
|
|
Chromosome 11p Deletion Syndrome
|
|
|
| Craniofacial Microsomia |
|
Goldenhar Syndrome
|
Hemifacial Microsomia
|
|
Oculoauriculovertebral Spectrum
|
Oavs
|
|
Oculo-Auriculo-Vertebral Spectrum
|
CFM
|
|
Oav Dysplasia
|
Facioauriculovertebral Sequence
|
|
Fav Sequence
|
First And Second Branchial Arch Syndrome
|
|
Otomandibular Dysostosis
|
Hfm
|
|
Oculoauriculovertebral Dysplasia
|
Facio-Auriculo-Vertebral Spectrum
|
|
Facioauriculovertebral Dysplasia
|
Oculo-Auriculo-Vertebral Dysplasia
|
|
First Arch Syndrome
|
Oav Dysplasia
|
|
Goldenhar Disease
|
Expanded Spectrum Hemifacial Microsomia
|
|
Expanded Spectrum Of Hemifacial Microsomia
|
Oculoauriculovertebral Syndrome
|
|
Oavd
|
Asymmetric Hypoplasia Of Facial Structures
|
|
Auriculobranchiogenic Dysplasia
|
Fav
|
|
First And Second Pharyngeal Arch Syndromes
|
Goldenhar-Gorlin Syndrome
|
|
Lateral Facial Dysplasia
|
Oav Complex
|
|
Oral-Mandibular-Auricular Syndrome
|
Unilateral Intrauterine Facial Necrosis
|
|
Unilateral Mandibulofacial Dysostosis
|
Oav Spectrum
|
|
Oculoauricular Vertebral Dysplasia
|
Microsomia, Hemifacial
|
|
Goldenhar Syndrome With Ipsilateral Radial Defect
|
|
|
| Acrofacial Dysostosis 1, Nager Type |
|
Nager Syndrome
|
Nager Acrofacial Dysostosis
|
|
AFD1
|
Preaxial Acrofacial Dysostosis
|
|
Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies
|
Afd, Nager Type
|
|
Nager Acrofacial Dysostosis Syndrome
|
Nafd
|
|
Acrofacial Dysostosis, Nager Type
|
Afd
|
|
Preaxial Manibulofacial Dysostosis
|
Split Hand Deformity-Mandibulofacial Dysostosis
|
|
Preaxial Mandibulofacial Dysostosis
|
Mandibulofacial Dysostosis With Preaxial Limb Anomalies
|
|
Preaxial Acrodysostosis
|
Afd Nager Type
|
|
Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
|
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Acrofacial Dysostosis |
|
|
| 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
|
|
|
| Achard Syndrome |
|
Arachnodactyly, Receding Lower Jaw And Joint Laxity Of Hands/Feet
|
|
|
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
HH5
|
Kallmann Syndrome 5
|
|
Kal5
|
Hypogonadotropic Hypogonadism 5 Without Anosmia
|
|
Hypogonadism, Hypogonadotropic, Type 5 With/Without Anosmia
|
|
|
| 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
|
|
|
| Fraser Syndrome 1 |
|
Fraser Syndrome
|
Cryptophthalmos With Other Malformations
|
|
Cryptophthalmos Syndrome
|
FRASRS1
|
|
Cryptophthalmos-Syndactyly Syndrome
|
Fraser-Francois Syndrome
|
|
Cyclopism
|
Meyer-Schwickerath'S Syndrome
|
|
Ulrich-Feichtiger Syndrome
|
Cryptophthalmos Syndactyly Syndrome
|
|
Fraser'S Syndrome
|
Meyer-Schwickerath Syndrome
|
|
Ullrich-Feichtiger Syndrome
|
|
|
| Bowen-Conradi Syndrome |
|
BWCNS
|
Bowen Hutterite Syndrome
|
|
Bowen-Conradi Hutterite Syndrome
|
Bowen Syndrome, Hutterite Type
|
|
Bowen Hutterite Syndrome, Formerly
|
Hutterite Syndrome
|
|
Bowen Syndrome Hutterite Type
|
Fetal Growth Retardation
|
|
|
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Mandibulofacial Dysostosis With Microcephaly
|
Mandibulofacial Dysostosis-Microcephaly Syndrome
|
|
MFDGA
|
MFDM
|
|
Mfdm Syndrome
|
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate
|
|
Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate
|
Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome
|
|
Dysostosis, Mandibulofacial, Guion-Almeida Type
|
|
|
| Dyskeratosis Congenita, X-Linked |
|
DKCX
|
X-Linked Dyskeratosis Congenita
|
|
Zinsser-Cole-Engman Syndrome
|
Hoyeraal-Hreidarsson Syndrome
|
|
Dyskeratosis Congenita X-Linked
|
HHS
|
|
Cerebellar Hypoplasia With Pancytopenia
|
Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia
|
|
Dyskeratosis Congenita
|
|
|
| Shwachman-Diamond Syndrome 1 |
|
Shwachman-Diamond Syndrome
|
Shwachman Syndrome
|
|
Shwachman-Bodian-Diamond Syndrome
|
Sds
|
|
Pancreatic Insufficiency And Bone Marrow Dysfunction
|
Shwachman-Bodian Syndrome
|
|
SDS1
|
Lipomatosis Of Pancreas, Congenital
|
|
Congenital Lipomatosis Of Pancreas
|
Shwachman-Diamond Type Metaphyseal Dysplasia
|
|
Metaphyseal Chondrodysplasia, Shwachman Type
|
Shwachman-Diamond-Oski Syndrome
|
|
|
| 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
|
|
|
| Orofacial Cleft |
|
|
| Cartilage-Hair Hypoplasia |
|
Metaphyseal Chondrodysplasia, Mckusick Type
|
CHH
|
|
Mckusick Type Metaphyseal Chondrodysplasia
|
Metaphyseal Dysplasia Without Hypotrichosis
|
|
Cartilage Hair Hypoplasia Like Syndrome
|
Metaphyseal Chondrodysplasia Mckusick Type
|
|
Chhv
|
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
|
|
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency
|
Cartilage-Hair Syndrome
|
|
Mckusick'S Metaphyseal Chondrodysplasia Syndrome
|
Metaphyseal Chondrodysplasia, Recessive Type
|
|
Autosomal Recessive Metaphyseal Chondrodysplasia
|
|
|
| Anauxetic Dysplasia 1 |
|
Anauxetic Dysplasia
|
Spondylometaepiphyseal Dysplasia, Menger Type
|
|
Spondylometaepiphyseal Dysplasia, Anauxetic Type
|
Spondyloepimetaphyseal Dysplasia, Anauxetic Type
|
|
ANXD1
|
Anxd
|
|
Spondylometaepiphyseal Dysplasia Anauxetic Type
|
Spondylometaepiphyseal Dysplasia Menger Type
|
|
Ad
|
Spondyloepimetaphyseal Dysplasia, Menger Type
|
|
Dysplasia, Anauxetic, Type 1
|
|
|
| Branchiootic Syndrome |
|
Bo Syndrome
|
Branchiootic Dysplasia
|
|
Bor
|
Bo Syndrome 1
|
|
Bos1
|
Branchiootic Syndrome 1
|
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Waardenburg'S Syndrome |
|
Waardenburg Syndrome
|
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
|
|
Van Der Hoeve Halbertsona Waardenburg Syndrome
|
Waardenburg Shah Syndrome
|
|
Waardenburg, Types I And/Or Ii
|
Mende Syndrome
|
|
Waardenburgs Syndrome
|
Waardenburg Syndrome, Type 4a
|
|
|
| Diamond-Blackfan Anemia |
|
Congenital Pure Red Cell Aplasia
|
Aase Syndrome
|
|
Erythrogenesis Imperfecta
|
Anemia, Diamond-Blackfan
|
|
Congenital Hypoplastic Anemia
|
Aase-Smith Ii Syndrome
|
|
Bds
|
Blackfan-Diamond Anemia
|
|
Congenital Prca
|
Congenital Hypoplastic Anemia, Blackfan-Diamond Type
|
|
Dba
|
Blackfan - Diamond Syndrome
|
|
Chronic Constitutional Pure Red Cell Anaemia
|
Anemia Diamond Blackfan Type
|
|
Anemia Congenital Erythroid Hypoplastic
|
Aregenerative Anemia Chronic Congenital
|
|
Blackfan Diamond Syndrome
|
Red Cell Aplasia, Pure Hereditary
|
|
Aase-Smith Syndrome Ii
|
Bda
|
|
Blackfan Diamond Anemia
|
Blackfan-Diamond Disease
|
|
Blackfan-Diamond Syndrome
|
Chronic Congenital Agenerative Anemia
|
|
Congenital Erythroid Hypoplastic Anemia
|
Congenital Hypoplastic Anemia Of Blackfan And Diamond
|
|
Congenital Pure Red Cell Anemia
|
Hypoplastic Congenital Anemia
|
|
Inherited Erythroblastopenia
|
Pure Hereditary Red Cell Aplasia
|
|
Anemia, Hypoplastic, Congenital
|
Anemia Hypoplastic Congenital
|
|
Fanconi Anemia
|
Constitutional Aplastic Anemia
|
|
Diamond-Blackfan Anemia 1
|
Aase Smith Syndrome 2
|
|
Congenital Red Cell Aplasia
|
Red Cell Aplasia Of Infants
|
|
Pure Red Cell Aplasia Of Infants
|
Congenital Red Cell Aplastic Anaemia
|
|
Congenital Pure Red Cell Anaemia
|
Congenital Erythroid Hypoplasia
|
|
Pearson Marrow-Pancreas Syndrome
|
|
|
| Mowat-Wilson Syndrome |
|
MOWS
|
Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
|
|
Hirschsprung Disease-Mental Retardation Syndrome
|
Mowat-Wilson Syndrome Due To Monosomy 2q22
|
|
Hirschsprung Disease Mental Retardation Syndrome
|
Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
|
|
Hirschsprung Disease - Intellectual Disability Syndrome
|
Hirschsprung Disease Intellectual Disability Syndrome
|
|
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease
|
Mws
|
|
Hirschsprung Disease-Intellectual Disability Syndrome
|
Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
|
|
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)
|
Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
|
|
Mowat-Wilson Syndrome Due To 2q22 Microdeletion
|
Mowat-Wilson Syndrome Due To Del(2)Q(22)
|
|
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
|
Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Dyskeratosis Congenita |
|
Dyskeratosis Congenita Autosomal Dominant
|
Dc
|
|
Dkc
|
Zinsser-Engman-Cole Syndrome
|
|
Dyskeratosis Congenita, Autosomal Dominant
|
Autosomal Dominant Dyskeratosis Congenita
|
|
Dkca
|
Dyskeratosis Congenita Scoggins Type
|
|
Zinsser-Cole-Engman Syndrome
|
X-Linked Dyskeratosis Congenita
|
|
Hoyeraal-Hreidarsson 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
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
