| 疾病名称 |
别名 |
|
| Culler-Jones Syndrome |
|
Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome
|
CJS
|
|
Pallister-Hall Syndrome 2, Formerly
|
Phs2, Formerly
|
|
Pallister-Hall Syndrome 2
|
Phs2
|
|
|
| Holoprosencephaly 9 |
|
Pituitary Anomalies With Holoprosencephaly-Like Features
|
HPE9
|
|
Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies
|
Holoprosencephaly-9
|
|
Holoprosencephaly, Type 9
|
|
|
| White-Sutton Syndrome |
|
WHSUS
|
Mrd37
|
|
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome
|
Mental Retardation, Autosomal Dominant 37
|
|
Autosomal Dominant Mental Retardation 37
|
Pogz-Related Intellectual Disability Syndrome
|
|
|
| Microform Holoprosencephaly |
|
Hpe, Minor Form
|
Hpe-L
|
|
Holoprosencephaly, Minor Form
|
Holoprosencephaly-Like
|
|
Microform Hpe
|
|
|
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Congenital Hypopituitarism
|
Pituitary Hormone Deficiency, Combined 1
|
|
Congenital Combined Pituitary Hormone Deficiency
|
Non-Acquired Combined Pituitary Hormone Deficiency
|
|
Cphd1
|
Familial Congenital Hypopituitarism
|
|
Multiple Pituitary Hormone Deficiencies, Genetic Forms
|
Combined Pituitary Hormone Deficiencies, Genetic Form
|
|
Hormone Deficiency, Pituitary, Combined, Type 1
|
|
|
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Mih
|
Mih Type Hpe
|
|
Mihf
|
Mihv
|
|
Middle Interhemispheric Fusion Variant
|
Middle Interhemispheric Variant Of Holoprosencephaly
|
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Syntelencephaly
|
|
|
| Septopreoptic Holoprosencephaly |
|
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| Lobar Holoprosencephaly |
|
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| Alobar Holoprosencephaly |
|
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| Semilobar Holoprosencephaly |
|
|
| 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
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Polydactyly |
|
Non-Syndromic Polydactyly
|
Polydactyly, Postaxial
|
|
Postaxial Polydactyly
|
Supernumerary Digit
|
|
Extra Digits
|
Hyperdactyly
|
|
Polydactylia
|
Polydactylism
|
|
Supernumerary Digits
|
|
|
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
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| 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
|
|
|
| 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
|
|
|
| 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
|
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Primary Hypopituitarism
|
Secondary Hypogonadism
|
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Prepubertal Panhypopituitarism
|
Prepubertal Dwarfism
|
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Postpartum Panhypopituitary Syndrome
|
Postpartum Hypopituitarism
|
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Pituitary Short Stature
|
Pituitary Infantilism
|
|
Pituitary Hypogonadism
|
Pituitary Hypoadrenocorticism
|
|
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| Basal Cell Carcinoma |
|
Basal Cell Cancer
|
Basal Cell Neoplasm
|
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Basal Cell Carcinoma Of Skin
|
Malignant Basal Cell Tumor
|
|
Basal Cell Tumor
|
Epithelioma Basal Cell
|
|
Malignant Basal Cell Neoplasm
|
Rodent Ulcer
|
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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
|
|
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Holoprosencephaly 3 |
|
HPE3
|
Hlp3
|
|
Holoprosencephaly-3
|
Holoprosencephaly, Type 3
|
|
|
| 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
|
|
|
| Skin Benign Neoplasm |
|
Neoplasm Of Skin By Site
|
Tumor Of The Skin
|
|
Skin Tumor
|
Benign Neoplasm Of Skin
|
|
Skin Neoplasms
|
|
|
| Infratentorial Cancer |
|
Infratentorial Neoplasms
|
Brain Neoplasm, Infratentorial
|
|
Malignant Infratentorial Tumors
|
|
|
| Adult Medulloblastoma |
|
Adult Brain Medulloblastoma
|
Medulloblastoma, Adult
|
|
|
| Desmoplastic Nodular Medulloblastoma |
|
Medulloblastoma With Extensive Nodularity
|
Nodular Medulloblastoma
|
|
Desmoplastic/Nodular Medulloblastoma
|
Mben
|
|
Medulloblastoma, With Extensive Nodularity
|
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
T-Cell Leukemia
|
Acute T Cell Leukemia
|
|
Precursor T Lymphoblastic Leukemia
|
Precursor T-Lymphoblastic Lymphoma/Leukemia
|
|
T Acute Lymphoblastic Leukemia
|
T-Cell Acute Lymphocytic Leukaemia
|
|
T-Cell Lymphoblastic Leukemia/Lymphoma
|
Leukemia T-Cell
|
|
Leukemia, T-Cell
|
Leukemia, Acute, Lymphoblastic, T-Cell
|
|
Leukemia, T-Cell Acute Lymphoblastic
|
Leukemia, Acute T-Cell
|
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|
Precursor T-Cell Lymphoblastic Lymphoma
|
|
Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma
|
|
|
| Holoprosencephaly 11 |
|
HPE11
|
Holoprosencephaly-11
|
|
Holoprosencephaly, Type 11
|
|
|
| Persistent Moderate Asthma |
|
|
| Tropical Spastic Paraparesis |
|
Tropical Spastic Paraplegia
|
Ham/Tsp
|
|
Htlv-Associated Myelopathy
|
Tropical Spastic Paralysis
|
|
Htlv-1 Associated Myelopathy/Tropical Spastic Paraparesis
|
Human T-Cell Leukemia Virus Type 1 Associated Myelopathy/Tropical Spastic Paraparesis
|
|
Htlv-1-Associated Myelopathy/Tropical Spastic Paraparesis
|
Human T-Lymphotropic Virus Type I-Associated Myelopathy/Tropical Spastic Paraparesis
|
|
Human T-Lymphotropic Virus Type-1-Associated Myelopathy/Tropical Spastic Paraparesis
|
Tsp
|
|
Paraparesis Tropical Spastic
|
Paraparesis, Tropical Spastic
|
|
|
| Childhood Medulloblastoma |
|
Medulloblastoma, Childhood
|
Pediatric Medulloblastoma
|
|
Medulloblastoma Childhood
|
|
|
| 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
|
|
|
| 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
|
|
|
| Joubert Syndrome 8 |
|
JBTS8
|
Joubert Syndrome, Type 8
|
|
|
| Anus, Imperforate |
|
Imperforate Anus
|
Anorectal Malformation
|
|
Anal Atresia
|
Anorectal Malformations
|
|
Congenital Atresia Of Anus
|
Congenital Or Infantile Occlusion Of Anus
|
|
Anal Stenosis
|
Arm
|
|
|
| Holoprosencephaly 7 |
|
HPE7
|
Holoprosencephaly-7
|
|
Holoprosencephaly, Type 7
|
|
|
| Large Cell Medulloblastoma |
|
|
| Vacterl Association |
|
Vater Association
|
Vater Syndrome
|
|
|
| Pituitary Hormone Deficiency, Combined, 2 |
|
Panhypopituitarism
|
Combined Pituitary Hormone Deficiency
|
|
CPHD2
|
Ateliotic Dwarfism With Hypogonadism
|
|
Pituitary Dwarfism Iii
|
Hanhart Dwarfism
|
|
Simmond'S Disease
|
Simmonds' Disease
|
|
Cphd
|
Pituitary Hormone Deficiency, Combined
|
|
Hormone Deficiency, Pituitary, Combined, Type 2
|
Pituitary Dwarfism Type 3
|
|
Sheehan Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Focal Dermal Hypoplasia |
|
Goltz Syndrome
|
Goltz-Gorlin Syndrome
|
|
FDH
|
FODH
|
|
Dhof
|
Goltz Gorlin Syndrome
|
|
Hypoplasia, Dermal, Focal
|
|
|
| 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
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Micronodular Basal Cell Carcinoma |
|
Skin Micronodular Basal Cell Carcinoma
|
Basal Cell Carcinoma, Micronodular
|
|
|
| Joubert Syndrome 32 |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Orofacial Cleft |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| 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
|
|
|
| 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
|
|
|
