| 疾病名称 |
别名 |
|
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
ATMDS
|
Acquired Hemoglobin H Disease
|
|
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic
|
Acquired Hbh Disease
|
|
Alpha-Thalassemia-Myelodysplastic Syndrome
|
Hemoglobin H Disease, Acquired
|
|
Acquired Alpha-Thalassemia With Myelodysplastic Syndrome
|
Hemoglobin H Disease Acquired
|
|
Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic
|
|
|
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Sfms
|
Holmes-Gang Syndrome
|
|
MRXHF1
|
Smith-Fineman-Myers Syndrome 1
|
|
Sfm1
|
Xlmr-Hypotonic Facies Syndrome
|
|
Carpenter-Waziri Syndrome
|
Chudley-Lowry Syndrome
|
|
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked
|
X-Linked Mental Retardation-Hypotonic Facies Syndrome-1
|
|
Smith-Fineman-Myers Syndrome
|
Juberg-Marsidi Syndrome
|
|
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
|
Cws
|
|
Intellectual Disability X-Linked With Growth Retardation Deafness And Microgenitalism
|
Jms
|
|
Mental Retardation Smith Fineman Myers Type
|
|
|
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Atr-X Syndrome
|
ATRX
|
|
Alpha-Thalassemia/Mental Retardation Syndrome
|
Atr-X
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
|
Atr, Nondeletion Type
|
|
Alpha-Thalassemia Mental Retardation Syndrome
|
X-Linked Alpha Thalassemia Mental Retardation Syndrome
|
|
Alpha-Thalassemia/Intellectual Disability Syndrome, X-Linked
|
Atr Nondeletion Type
|
|
Thalassemia, Alpha/Mental Retardation Syndrome
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
|
|
Alpha Thalassemia-Mental Retardation Syndrome
|
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Atr-X Syndrome
|
Atr, Nondeletion Type
|
|
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
|
Atrx Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type
|
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
|
|
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome
|
Xlmr Hypotonic Face Syndrome
|
|
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
|
Alpha Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha Thalassemia/Mental Retardation, X-Linked
|
Alpha-Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
|
X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
|
|
Xlmr-Hypotonic Face Syndrome
|
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
|
|
|
| High-Grade Astrocytoma |
|
|
| Malignant Astrocytoma |
|
Astrocytic Tumor
|
Astrocytoma Of Brain
|
|
Astrocytoma Of Cerebrum
|
Astroglioma
|
|
Cerebral Astrocytoma
|
Astrocytoma
|
|
|
| Anaplastic Astrocytoma |
|
Grade Iii Astrocytoma
|
Astrocytoma, Anaplastic
|
|
Grade Iii Astrocytic Tumor
|
|
|
| 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
|
|
|
| Osteogenic Sarcoma |
|
Osteosarcoma
|
OSRC
|
|
Osteosarcoma, Somatic
|
Neoplasms, Bone Tissue
|
|
Bone Tissue Neoplasm
|
Osteoid Sarcoma
|
|
Skeletal Sarcoma
|
Osteosarcoma Of Bone
|
|
Bone Sarcoma
|
|
|
| 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
|
|
|
| Bone Osteosarcoma |
|
Osteosarcoma Of Bone
|
Primary Osteosarcoma Of Bone
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Thalassemia |
|
Sickle-Cell Thalassemia With Crisis
|
Sickle-Cell Thalassemia Without Crisis
|
|
Thalassemia Hb-S Disease With Crisis
|
Thalassemia Hb-S Disease Without Crisis
|
|
Thalassemias
|
Hereditary Leptocytosis
|
|
Haemoglobin Thalassaemia Disorder
|
Thalassaemia Syndrome
|
|
Thalassaemia Nos
|
Thalassemia Variants
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Gastric Neuroendocrine Neoplasm |
|
Gastric Neuroendocrine Tumor
|
Neuroendocrine Tumor Of The Stomach
|
|
Neuroendocrine Tumor Of Stomach
|
Gnet
|
|
Gastric Net
|
Net Of Stomach
|
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Juberg-Marsidi Syndrome
|
Jms
|
|
Brooks-Wisniewski-Brown Syndrome
|
MRXST
|
|
Mental Retardation, X-Linked, Syndromic, Turner Type
|
Mrxsbwb
|
|
Mental Retardation And Macrocephaly Syndrome
|
Mental Retardation, X-Linked, With Growth Retardation, Deafness, And Microgenitalism
|
|
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type
|
Intellectual Developmental Disorder, X-Linked Syndromic, Turner Type
|
|
Brooks Wisniewski Brown Syndrome
|
X-Linked Intellectual Disability Brooks Type
|
|
Juberg Marsidi Syndrome
|
Intellectual Disability, X-Linked With Growth Delay, Deafness, Microgenitalism
|
|
Intellectual Disability, X-Linked, With Growth Retardation, Deafness, And Microgenitalism
|
Juberg-Marsidi Intellectual Disability Syndrome
|
|
X-Linked Hypogonadism Gynecomastia Intellectual Disability
|
X-Linked Intellectual Disability-Hypotonic Facies Syndrome 1
|
|
|
| Diffuse Astrocytoma |
|
Diffuse Astrocytoma, Low Grade
|
Who Grade Ii Astrocytoma
|
|
Fibrillary Astrocytoma
|
Gemistocytic Astrocytoma
|
|
Low-Grade Diffuse Astrocytoma
|
Protoplasmic Astrocytoma
|
|
|
| Mixed Oligodendroglioma-Astrocytoma |
|
Who Grade Ii Mixed Glioma
|
|
|
| Adult Brainstem Astrocytoma |
|
Adult Brain Stem Astrocytoma
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Idh-Wildtype Glioblastoma |
|
|
| Pleomorphic Xanthoastrocytoma |
|
Pxa
|
Pleomorphic Xantho-Astrocytoma
|
|
|
| Adult Astrocytic Tumour |
|
Adult Astrocytoma
|
Adult Astrocytic Tumors
|
|
|
| Childhood Osteosarcoma |
|
|
| Astrocytoma, Idh-Mutant, Grade 4 |
|
|
| Choroid Plexus Cancer |
|
Choroid Plexus Carcinoma
|
Choroid Plexus Neoplasms
|
|
Choroid Plexus Neoplasm
|
Tumor Of Choroid Plexus
|
|
Tumor Of The Choroid Plexus
|
Choroid Plexus Tumor
|
|
Choroid Plexus Tumors
|
Anaplastic Choroid Plexus Papilloma
|
|
Choroid Plexus Papilloma Nos
|
Papilloma Of Choroid Plexus
|
|
Plexus Choroideus Papilloma
|
Choroid Plexus Papilloma In Fourth Ventricle
|
|
Plexus Choroideus Papilloma In Fourth Ventricle
|
|
|
| Anaplastic Pleomorphic Xanthoastrocytoma |
|
|
| Diffuse Glioma, H3 G34 Mutant |
|
|
| Brain Stem Astrocytic Neoplasm |
|
Brainstem Astrocytoma
|
Astrocytoma Of Brain Stem
|
|
|
| Myelodysplastic Syndrome |
|
Myelodysplastic Syndromes
|
Myelodysplasia
|
|
MDS
|
Myelodysplastic Syndrome Included
|
|
Myelodysplastic Syndrome, Susceptibility To, Included
|
Myelodysplastic Syndrome, Somatic
|
|
Myelodysplastic Syndrome, Susceptibility To
|
|
|
| Gonadal Dysgenesis |
|
Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
|
|
| Low Grade Glioma |
|
|
| Spinal Cord Astrocytoma |
|
Astrocytoma Of Spinal Cord
|
Spinal Astrocytoma
|
|
|
| Adult Brain Stem Glioma |
|
Adult Brainstem Neuroglial Tumor
|
|
|
| Leiomyosarcoma |
|
|
| Paraganglioma |
|
Chemodectoma
|
Glomus Body Tumor
|
|
Paragangliomas
|
Carotid Body Paraganglioma
|
|
Extra-Adrenal Paraganglioma
|
|
|
| Brain Glioma |
|
Lower Grade Glioma
|
Intracranial Glioma
|
|
Glioma Nos
|
|
|
| Childhood Oligodendroglioma |
|
Pediatric Oligodendroglioma
|
Oligodendroglioma, Childhood
|
|
|
| Central Nervous System Benign Neoplasm |
|
Benign Neoplasm Of The Central Nervous System
|
|
|
| Mixed Glioma |
|
Mixed Gliomas
|
Mixed Neuroglial Tumor
|
|
Glioma
|
|
|
| Idh-Mutant Anaplastic Astrocytoma |
|
|
| Spinal Cord Disease |
|
Spinal Cord Diseases
|
Myelopathy
|
|
Bone Marrow Diseases
|
|
|
| Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
|
Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type
|
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
|
|
Atr Syndrome Linked To Chromosome 16
|
Atr Syndrome, Deletion Type
|
|
Atr-16 Syndrome
|
Alpha Thalassemia-Retardation Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type
|
Alpha-Thalassemia/Mental Retardation Syndrome, Type 1
|
|
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
|
|
|
| Spinal Cord Oligodendroglioma |
|
Oligodendroglioma Of Spinal Cord
|
Well Differentiated Spinal Cord Oligodendroglioma
|
|
|
| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
|
Rett Disorder
|
Rts
|
|
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
|
Rett Syndrome, Atypical
|
Rett'S Disorder
|
|
Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
|
Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
|
Rett'S Syndrome
|
Atypical Rtt
|
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
|
Rett Syndrome Preserved Speech Variant
|
|
Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
| Spinal Cord Glioma |
|
Glial Tumor Of Spinal Cord
|
Glial Neoplasm Spinal Cord
|
|
Glioma Of Spinal Cord
|
|
|
| Pancreatic Endocrine Carcinoma |
|
Carcinoma Of Endocrine Pancreas
|
Islet Cell Carcinoma
|
|
Malignant Neoplasm Of Islets Of Langerhans
|
Pancreatic Neuroendocrine Carcinoma
|
|
Carcinoma Islet Cell
|
Carcinoma, Islet Cell
|
|
|
| Gemistocytic Astrocytoma |
|
Gemistocytic Astrocytic Tumor
|
|
|
| Hemoglobin H Disease |
|
HBH
|
Hemoglobin H Disease, Nondeletional
|
|
Hemoglobin H Disease, Deletional
|
Alpha-Thalassemia Intermedia
|
|
Haemoglobin H Disease
|
Alpha-Thalassemia, Hemoglobin H Type
|
|
Hemoglobin H Disease, Deletional And Nondeletional
|
Alpha Thalassemia, Haemoglobin H Type
|
|
Alpha Thalassemia, Hemoglobin H Type
|
Haemoglobin H Disease, Deletional
|
|
Hbh Disease
|
Alpha-Thalassemia Hemoglobin H Type
|
|
Hemoglobin H Disease Deletional
|
Hemoglobin H Disease Non-Deletional
|
|
Alpha-Thalassemia
|
Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia
|
|
Alpha Thalassaemia Intermedia
|
|
|
| Histone Mutated Tumor |
|
|
| Tatton-Brown-Rahman Syndrome |
|
TBRS
|
Dnmt3a Overgrowth Syndrome
|
|
Tatton-Brown-Rahman Overgrowth Syndrome
|
Dos
|
|
Dnmt3a-Related Overgrowth Syndrome
|
Doid:0112339
|
|
Dose
|
|
|
| Idh-Wildtype Anaplastic Astrocytoma |
|
|
| Diffuse Midline Glioma, H3 K27m-Mutant |
|
Diffuse Intrinsic Pontine Glioma
|
Dipg
|
|
Infiltrative Brainstem Glioma
|
|
|
| Adult Oligodendroglioma |
|
Adult Brain Oligodendroglioma
|
Grade Ii Adult Oligodendroglial Tumor
|
|
Oligodendroglioma, Adult
|
|
|
| Atypical Choroid Plexus Papilloma |
|
Atypical Papilloma Of Choroid Plexus
|
Atypical Cpp
|
|
|
| Gliomatosis Cerebri |
|
Astrocytosis Cerebri
|
Neoplasms, Neuroepithelial
|
|
|
| Anaplastic Oligodendroglioma |
|
|
| Spinal Cancer |
|
Spinal Cord Neoplasm
|
Spinal Cord Neoplasms
|
|
Spinal Neoplasms
|
Intraspinal Tumor
|
|
Malignant Tumor Of The Spinal Cord
|
Spinal Cord Cancer
|
|
Spinal Neoplasm
|
Tumor Of The Spinal Cord
|
|
Tumors Spinal Cord
|
Intraspinal Neoplasm
|
|
Spinal Cord--Cancer
|
|
|
| Astroblastoma |
|
|
| Cerebral Ventricle Cancer |
|
Cerebral Ventricle Neoplasms
|
Cerebral Ventricle Neoplasm
|
|
Intraventricular Tumor Of Brain
|
|
|
| Brain Stem Cancer |
|
Brain Stem Neoplasms
|
Malignant Neoplasm Of Brain Stem
|
|
Malignant Neoplasm Of Brainstem
|
Neoplasm Of Adult Brain Stem
|
|
Neoplasm Of Brain Stem
|
Primary Brain Stem Neoplasm
|
|
Primary Brain Stem Tumor
|
Brain Stem Neoplasm
|
|
Brain Stem--Cancer
|
Brain Stem Neoplasms, Primary
|
|
|
| High Grade Ependymoma |
|
Ependymal Neoplasm
|
Ependymal Tumors
|
|
Malignant Ependymoma
|
Ependymal Tumor
|
|
Anaplastic Ependymoma
|
Experimental Organism Malignant Ependymoma
|
|
Ependymoma Of Brain
|
|
|
| Dysembryoplastic Neuroepithelial Tumor |
|
Dysembryoplastic Neuroepithelial Tumour
|
Dysembryoplastic Neuroepithelial Neoplasm
|
|
Dnet
|
|
|
| Cerebrum Cancer |
|
Cerebral Cancer
|
Neoplasm Of Cerebrum
|
|
Tumor Of Cerebrum
|
Malignant Neoplasm Of Cerebrum
|
|
|
| Pilomyxoid Astrocytoma |
|
|
| Pheochromocytoma |
|
Pheochromocytoma, Susceptibility To
|
Phaeochromocytoma
|
|
Adrenal Gland Chromaffin Paraganglioma
|
Adrenal Gland Chromaffinoma
|
|
Adrenal Gland Paraganglioma
|
Adrenal Gland Pheochromocytoma
|
|
Chromaffin Paraganglioma Of The Adrenal Gland
|
Intraadrenal Paraganglioma
|
|
PCC
|
Chromaffin Cell Tumor
|
|
Medullary Chromaffinoma
|
Medullary Paraganglioma
|
|
Pheochromoblastoma
|
Pheochromocytomas
|
|
Chromaffin Cell Neoplasm
|
Pheochromocytoma, Malignant
|
|
|
| Supratentorial Cancer |
|
Supratentorial Neoplasms
|
Brain Neoplasm, Supratentorial
|
|
Malignant Supratentorial Tumor
|
Cancer, Supratentorial
|
|
|
| Supratentorial Ependymoma |
|
|
| Syndromic X-Linked Intellectual Disability Nascimento Type |
|
Mental Retardation, X-Linked Syndromic, Nascimento-Type
|
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
|
|
|
| Multiple Enchondromatosis, Maffucci Type |
|
Maffucci Syndrome
|
Chondrodysplasia With Hemangioma
|
|
Chondroplasia Angiomatosis
|
Enchondromatosis With Hemangiomata
|
|
Hemangiomatosis Chondrodystrophica
|
Kast Syndrome
|
|
Multiple Angiomas And Endochondromas
|
Dyschondrodysplasia With Hemangiomas
|
|
Enchondromatosis Type Ii
|
Enchondromatosis With Multiple Cavernous Hemangiomas
|
|
Dyschondroplasia And Cavernous Hemangioma
|
Hemangiomata With Dyschondroplasia
|
|
|
| Pilocytic Astrocytoma |
|
Juvenile Pilocytic Astrocytoma
|
Grade I Astrocytic Tumor
|
|
Piloid Astrocytoma
|
|
|
| Coffin-Lowry Syndrome |
|
CLS
|
Coffin Syndrome 1
|
|
Coffin Syndrome
|
Intellectual Disability With Osteocartilaginous Abnormalities
|
|
Dwarfism, Lean Spastic Type
|
Lean Spastic Dwarfism
|
|
Mental Retardation With Osteocartilaginous Abnormalities
|
Coffin Lowry Syndrome
|
|
|
| Benign Ependymoma |
|
Ependymoma
|
Epithelial Ependymoma
|
|
Who Grade Ii Ependymal Tumor
|
Myxopapillary Ependymoma
|
|
|
| Islet Cell Tumor |
|
Pancreatic Neuroendocrine Tumor
|
Neuroendocrine Tumor Of Pancreas
|
|
Pnet
|
Pancreatic Net
|
|
Pancreatic Endocrine Tumor
|
Well-Differentiated Nen Of Pancreas
|
|
Well-Differentiated Neuroendocrine Neoplasm Of Pancreas
|
Well-Differentiated Pancreatic Nen
|
|
Well-Differentiated Pancreatic Neuroendocrine Neoplasm
|
Endocrine Pancreas Cancer
|
|
Islet Cell Neoplasm
|
Islet Cell Tumour
|
|
Malignant Pancreatic Endocrine Tumor
|
Malignant Pancreatic Endocrine Tumour
|
|
Malignant Tumor Of Endocrine Pancreas
|
Malignant Tumour Of Endocrine Pancreas
|
|
Pancreatic Endocrine Neoplasm
|
Pancreatic Neuroendocrine Neoplasm
|
|
Adenoma, Islet Cell
|
Well Differentiated Pancreatic Endocrine Tumor
|
|
Malignant Neoplasm Of Endocrine Pancreas
|
Pancreatic Endocrine Carcinoma
|
|
|
| Floating-Harbor Syndrome |
|
FLHS
|
Fhs
|
|
Pelletier-Leisti Syndrome
|
Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes
|
|
Leisti-Hollander-Rimoin Syndrome
|
|
|
| Subependymal Glioma |
|
Mixed Subependymoma-Ependymoma
|
Subependymal Astrocytoma
|
|
Who Grade I Ependymal Tumor
|
Glioma, Subependymal
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 93 |
|
Mrx93
|
X-Linked Mental Retardation With Macrocephaly
|
|
|
| Rela Fusion-Positive Ependymoma |
|
Supratentorial C11orf95-Rela Fused Ependymoma
|
C11orf95 Fusion-Positive Supratentorial Ependymoma
|
|
|
| Helsmoortel-Van Der Aa Syndrome |
|
HVDAS
|
Mrd28
|
|
Adnp Syndrome
|
Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
|
|
Mental Retardation, Autosomal Dominant 28
|
Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
|
|
Mental Retardation, Autosomal Dominant 28, Formerly
|
Mrd28, Formerly
|
|
Autosomal Dominant Mental Retardation 28
|
Adnp-Related Intellectual Disability And Autism Spectrum Disorder
|
|
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
|
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
Icf Syndrome
|
Immunodeficiency Syndrome, Variable
|
|
Ciid
|
Centromeric Instability, Immunodeficiency Syndrome
|
|
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16
|
Icf
|
|
|
| Enchondromatosis, Multiple, Ollier Type |
|
Ollier Disease
|
Enchondromatosis
|
|
Dyschondroplasia
|
Osteochondromatosis
|
|
Multiple Cartilaginous Enchondroses
|
Multiple Enchondromatosis
|
|
Enchondromatosis With Haemangiomata
|
Enchondromatosis, Multiple
|
|
Kast'S Syndrome
|
Ollier'S Syndrome
|
|
Enchondromatosis Multiple
|
ENCHOM
|
|
Maffucci Disease
|
Olliers Disease
|
|
Hereditary Multiple Exostoses
|
Chondromatosis
|
|
|
| Giant Cell Glioblastoma |
|
|
| Specific Developmental Disorder |
|
|
| Weaver Syndrome |
|
Wss
|
Weaver-Smith Syndrome
|
|
WVS
|
Weaver-Like Syndrome
|
|
Weaver-Williams Syndrome
|
Camptodactyly-Overgrowth-Unusual Facies Syndrome
|
|
Camptodactyly - Overgrowth - Unusual Facies
|
Ezh2 Related Overgrowth
|
|
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly
|
Weaver Smith Syndrome
|
|
Weaver Like Syndrome
|
Weaver Williams Syndrome
|
|
Camptodactyly-Overgrowth-Unusual Facies
|
Weaver Syndrome 1
|
|
Weaver Syndrome 2
|
Wvs1
|
|
Wvs2
|
|
|
| Temporal Lobe Neoplasm |
|
Neoplasm Of Temporal Lobe
|
Malignant Neoplasm Of Temporal Lobe
|
|
Tumor Of Temporal Lobe
|
|
|
| Neuroblastoma |
|
Nb
|
Neuroblastoma, Susceptibility To
|
|
Neuroblastomas
|
Central Neuroblastoma
|
|
|
| Multiple Endocrine Neoplasia, Type I |
|
Multiple Endocrine Neoplasia Type 1
|
MEN1
|
|
Wermer Syndrome
|
Multiple Endocrine Neoplasia 1
|
|
Multiple Endocrine Neoplasia, Type 1
|
Men I
|
|
Endocrine Adenomatosis, Multiple
|
Mea I
|
|
Men Type I
|
Wermer'S Syndrome
|
|
Men1 Syndrome
|
Multiple Endocrine Adenomatosis
|
|
Endocrine Adenomatosis Multiple
|
Men 1
|
|
Familial Multiple Endocrine Neoplasia Type I
|
Neoplasia, Endocrine, Multiple, Type 1
|
|
Multiple Endocrine Neoplasia
|
|
|
| Myxofibrosarcoma |
|
Fibromyxosarcoma
|
Fibromyxoid Sarcoma
|
|
Myxoid Malignant Fibrous Histiocytoma
|
Dermatofibrosarcoma Protuberans, Myxoid
|
|
|
| Dedifferentiated Liposarcoma |
|
Ddls
|
Liposarcoma Dedifferentiated
|
|
Liposarcoma, Dedifferentiated
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Hemolytic Anemia |
|
Anemia, Hemolytic
|
Anemia Hemolytic
|
|
Anaemia Due To Other Disorders Of Glutathione Metabolism
|
Chronic Non Spherocytic Anaemia
|
|
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia
|
Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
|
|
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia
|
Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
|
|
Favism Anaemia
|
Haemolytic Anaemia Due Tog6pd Deficiency
|
|
Favism
|
Pentose Phosphate Pathway Disorder Anaemia
|
|
Anaemia Due To Pentose Phosphate Pathway Defect
|
|
|
| Infratentorial Cancer |
|
Infratentorial Neoplasms
|
Brain Neoplasm, Infratentorial
|
|
Malignant Infratentorial Tumors
|
|
|
| Gliosarcoma |
|
Glioblastoma With Sarcomatous Component
|
Sarcomatous Glioblastoma
|
|
|
| Li-Fraumeni Syndrome |
|
Sarcoma Family Syndrome Of Li And Fraumeni
|
Sbla Syndrome
|
|
LFS
|
Li-Fraumeni Familiar Cancer Susceptibility Syndrome
|
|
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome
|
Lfs1
|
|
Li Fraumeni Syndrome
|
Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
|
|
Lfl
|
Sbla Syndrome Li-Fraumeni-Like Syndrome
|
|
Li-Fraumeni Syndrome 1
|
|
|
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Young-Onset Parkinson Disease
|
PARK2
|
|
Pdj
|
Autosomal Recessive Juvenile Parkinson Disease 2
|
|
Epdf
|
Parkinson Disease, Juvenile, Type 2
|
|
Parkinson'S Disease 2
|
Autosomal Recessive Juvenile Parkinson Disease
|
|
Early-Onset Parkinson Disease
|
Parkinson Disease 2
|
|
Parkinson Disease, Juvenile, Autosomal Recessive
|
Parkinsonism, Early-Onset, With Diurnal Fluctuation
|
|
Autosomal Recessive Juvenile Parkinson'S Disease 2
|
Jp
|
|
Juvenile Parkinsonism
|
Parkinson Disease Autosomal Recessive, Early Onset
|
|
Parkinsonism, Early Onset, With Diurnal Fluctuation
|
Yopd
|
|
Autosomal Recessive Early-Onset Parkinson Disease Type 2
|
Chromosome 6-Linked Autosomal Recessive Parkinsonism
|
|
Early-Onset Parkinsonism With Diurnal Fluctuation
|
Parkinsonism Young Adult Onset
|
|
Parkinson Disease, Type 2
|
Parkinsonism, Juvenile
|
|
|
| Sotos Syndrome |
|
Cerebral Gigantism
|
SOTOS
|
|
Chromosome 5q35 Deletion Syndrome
|
Sotos Syndrome 1, Formerly
|
|
Sotos1, Formerly
|
Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
|
|
Sotos Sequence
|
Sotos' Syndrome
|
|
Sotos1
|
Sotos Syndrome 1
|
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Syndromic Intellectual Disability |
|
|
| Deficiency Anemia |
|
Anemia
|
Deficiency Anemias
|
|
Anaemia
|
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
Hereditary Breast And Ovarian Cancer Syndrome
|
Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
|
|
Breast And/Or Ovarian Cancer
|
Breast And Ovarian Cancer Syndrome
|
|
Hboc Syndrome
|
Hereditary Breast And Ovarian Cancer
|
|
Brca1- Brca2-Associated Hboc
|
|
|
| Aplastic Anemia |
|
Aplastic Anemia, Susceptibility To
|
Anemia Aplastic
|
|
Idiopathic Aplastic Anemia
|
Secondary Aplastic Anemia
|
|
Idiopathic Bone Marrow Failure
|
Aplastic Anemia Idiopathic
|
|
AA
|
Anemia, Aplastic
|
|
Aplastic Anemia, Idiopathic
|
Erythroid Aplasia
|
|
Aa - [Aplastic Anaemia]
|
Haematopoietic Aplasia
|
|
Aleukia Haemorrhagica
|
Anaemia Due To Decreased Red Cell Production
|
|
Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
|
Hypoplastic Anaemia Nos
|
Myeloid Bone Marrow Aplasia
|
|
Pancytopenia
|
Panhaematopenia
|
|
Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
|
Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
|
Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
|
Toxic Anaemia
|
Toxic Aplastic Anaemia
|
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
|
|
| 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
|
|
|
| Fanconi Anemia, Complementation Group A |
|
Fanconi Anemia
|
Fanconi Pancytopenia
|
|
Fanconi Anemia Complementation Group A
|
FANCA
|
|
Fa
|
Fanconi Panmyelopathy
|
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
|
X-Linked Non-Specific Intellectual Disability
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
