| Diseases |
Alias |
|
| Kabuki Syndrome 1 |
|
Kabuki Syndrome
|
Niikawa-Kuroki Syndrome
|
|
Kabuki Make-Up Syndrome
|
Kms
|
|
KABUK1
|
Kabuki Make Up Syndrome
|
|
Nks
|
Kabuki Makeup Syndrome
|
|
Kabuki Syndrome, Type 1
|
|
|
| Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome |
|
Kmt2d-Related Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome
|
|
|
| Dandy-Walker Syndrome |
|
Dandy-Walker Malformation
|
DWS
|
|
Atresia Of Foramina Of Magendie And Luschka
|
Dandy-Walker Complex
|
|
Dandy-Walker Cyst
|
Dandy-Walker Deformity
|
|
Dandy Walker Cyst
|
Dw Complex
|
|
Dandy-Walker Syndrome Or Malformation
|
Dandy-Walker Variant
|
|
Mega Cisterna Magna
|
Dwm
|
|
Hydrocephalus, Internal, Dandy-Walker Type
|
Hydrocephalus, Noncommunicating, Dandy-Walker Type
|
|
Luschka-Magendie Foramina Atresia
|
Isolated Dandy-Walker Malformation
|
|
Mega-Cisterna Magna
|
Dandy Walker Variant
|
|
Atresia Of Foramen Of Luschka
|
Atresia Of Foramen Of Magendie
|
|
Congenital Blockage Of Foramen Magendie
|
|
|
| Complement Component C1s Deficiency |
|
|
| 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
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Cavernous Sinus Meningioma |
|
Meningioma Of The Cavernous Sinus
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
MRD26
|
Autism Spectrum Disorder Due To Auts2 Deficiency
|
|
Mental Retardation, Autosomal Dominant 26
|
Autosomal Dominant Intellectual Developmental Disorder 26
|
|
Autosomal Dominant Mental Retardation 26
|
Autosomal Dominant Non-Syndromic Intellectual Disability 26
|
|
Asd Due To Auts2 Deficiency
|
Auts2 Syndrome
|
|
Mental Retardation, Autosomal Dominant, Type 26
|
|
|
| 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
|
|
|
| Rubinstein Taybi Like Syndrome |
|
Broad Terminal Phalanges Of The Thumbs And Great Toes, Antimongoloid Slant Of The Palpebral Fissures, And Characteristic Beaked Noses
|
|
|
| Lymphoma |
|
Lymphoid Cancer
|
Lymphomas
|
|
Lymphoid Cancers
|
Lymphoid Neoplasm
|
|
Lymphoma Nos
|
Nhl - [Non-Hodgkin Lymphoma]
|
|
Non-Hodgkin Lymphoma
|
Non-Hodgkin Lymphoma, Nos
|
|
Non-Hodgkin Malignant Lymphoma Nos
|
|
|
| Plasma Cell Neoplasm |
|
Plasma Cell Dyscrasia
|
Paraproteinemias
|
|
Plasma Cell Tumour
|
Plasmacytic Tumor
|
|
Multiple Myeloma
|
Plasmacytoma
|
|
Plasma Cell Tumours
|
Plasma Cells Dyscrasia
|
|
|
| Histiocytic Sarcoma |
|
|
| Myeloma, Multiple |
|
Multiple Myeloma
|
Plasma Cell Myeloma
|
|
Kahler Disease
|
Myelomatosis
|
|
Medullary Plasmacytoma
|
Multiple Myeloma, Resistance To
|
|
Myeloma
|
Plasma Cell Dyscrasia
|
|
Kahler'S Disease
|
Multiple Myeloma, Susceptibility To
|
|
Myeloma - Multiple
|
Kahler-Bozzolo Disease
|
|
Plasma Cell Myelomas
|
MM
|
|
Plasma Cell Neoplasm
|
Primary Systemic Amyloidosis
|
|
Primary Amyloidosis
|
Immunoglobulin Deposition Disease
|
|
Plasmacytic Myeloma
|
Multiple Myelomata
|
|
Multiple Myeloma Nos
|
Multiple Myeloma Without Mention Of Remission
|
|
Monostotic Plasma Cell Myeloma
|
Mm - [Multiple Myeloma]
|
|
|
| Diffuse Large B-Cell Lymphoma |
|
Dlbcl
|
Diffuse Large B-Cell Lymphoma, Not Otherwise Specified
|
|
Large B-Cell Diffuse Lymphoma
|
Lymphoma, Large B-Cell, Diffuse
|
|
Dlbcl - [Diffuse Large B-Cell Lymphoma]
|
Diffuse Large Beta Cell Lymphoma
|
|
|
| Endocervical Adenocarcinoma |
|
|
| B-Cell Lymphoma |
|
Lymphoma, B-Cell
|
B-Cell Lymphomas
|
|
B-Cell Lymphocytic Neoplasm
|
Lymphoma B-Cell
|
|
B-Cell Lymphoma Nos
|
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Lung Squamous Cell Carcinoma |
|
Squamous Cell Carcinoma Of Lung
|
Squamous Cell Lung Carcinoma
|
|
Epidermoid Cell Carcinoma Of The Lung
|
Squamous Cell Lung Cancer
|
|
|
| Corneal Staphyloma |
|
Staphyloma Of Cornea
|
Congenital Staphyloma
|
|
|
| Leukemia |
|
Leukemias
|
Leukaemia, Unspecified, Without Mention Of Remission
|
|
Aleukemic Leukaemia
|
Chronic Leukaemia
|
|
Subacute Leukaemia
|
Leukaemia Disorder
|
|
Leukaemia Nos
|
|
|
| Ezb Diffuse Large B-Cell Lymphoma |
|
|
| Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood |
|
Ebv-Positive T-Cell Lymphoproliferative Disorder Of Childhood
|
Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood
|
|
Systemic Ebv-Positive T-Cell Lymphoma Of Childhood
|
Systemic Ebv+ T-Cell Lymphoma Of Childhood
|
|
|
| Bladder Small Cell Carcinoma |
|
Small Cell Bladder Cancer
|
Small Cell Carcinoma Of The Bladder
|
|
Poorly Differentiated Neuroendocrine Carcinoma Of The Bladder
|
Sccb
|
|
Small Cell Bladder Carcinoma
|
Small Cell Carcinoma Of The Urinary Bladder
|
|
|
| Kleefstra Syndrome |
|
9q34.3 Microdeletion Syndrome
|
9q Subtelomeric Deletion Syndrome
|
|
9q- Syndrome
|
Chromosome 9q Deletion Syndrome
|
|
9q34.3 Deletion Syndrome
|
9qstds
|
|
Chromosome 9q34.3 Deletion Syndrome
|
Chromosome 9, Trisomy 9q
|
|
|
| Lung Cancer |
|
Lung Carcinoma
|
Non-Small Cell Lung Carcinoma
|
|
Lung Cancer, Susceptibility To
|
Lung Cancer, Protection Against
|
|
Adenocarcinoma Of Lung, Somatic
|
Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
|
|
Nonsmall Cell Lung Cancer
|
Lung Neoplasm
|
|
Carcinoma Of Lung
|
Lung Non-Small Cell Carcinoma
|
|
Non-Small Cell Lung Cancer
|
Nsclc
|
|
Lung Neoplasms
|
Malignant Neoplasm Of Lung
|
|
Alveolar Cell Carcinoma
|
Nonsmall Cell Lung Cancer, Somatic
|
|
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In
|
Nonsmall Cell Lung Cancer, Susceptibility To
|
|
Lung Cancer, Somatic
|
Lung Cancer, Resistance To
|
|
Cancer Of Lung
|
Cancer Of Bronchus
|
|
Cancer Of The Lung
|
Lung Malignancies
|
|
Lung Malignant Tumors
|
Malignant Lung Tumor
|
|
Malignant Tumor Of Lung
|
Pulmonary Cancer
|
|
Pulmonary Carcinoma
|
Pulmonary Neoplasms
|
|
Respiratory Carcinoma
|
LNCR
|
|
Adenocarcinoma Of Lung
|
Neoplasm Of Lung
|
|
Cancer Lung
|
Carcinoma Non-Small Cell Lung
|
|
Carcinoma, Non-Small-Cell Lung
|
Lung Cancers
|
|
Lung Carcinomas
|
Cancer, Lung
|
|
Cancer, Lung, Non-Small Cell
|
Primary Malignant Neoplasm Of Lung
|
|
Bronchioloalveolar Adenocarcinoma
|
|
|
| Immunodeficiency 27a |
|
IMD27A
|
Autosomal Recessive Ifngr1 Deficiency
|
|
Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis
|
Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency
|
|
Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency
|
Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency
|
|
Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency
|
Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive
|
|
Ifngr1 Deficiency, Autosomal Recessive
|
Immunodeficiency 27a, Mycobacteriosis, Ar
|
|
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency
|
Msmd Due To Complete Ifngammar1 Deficiency
|
|
Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency
|
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency
|
|
Familial Disseminated Atypical Mycobacterial Infection
|
Interferon Gamma, Receptor 1, Deficiency
|
|
Immunodeficiency, Type 27a, Mycobacteriosis, Ar
|
Mycobacterial Disease, Mendelian Susceptibility To
|
|
|
| Cervical Squamous Cell Carcinoma |
|
Squamous Cell Carcinoma Of The Cervix Uteri
|
Squamous Cell Carcinoma Of Cervix
|
|
|
| Squamous Cell Carcinoma |
|
Epidermoid Carcinoma
|
Squamous Cell Cancer
|
|
Carcinoma, Squamous Cell
|
Squamous Cell Skin Cancer
|
|
Malignant Squamous Cell Tumor
|
Squamous Carcinoma
|
|
Squamous Cell Epithelioma
|
Carcinoma Squamous Cell
|
|
Neoplasms, Squamous Cell
|
Squamous Cell Carcinoma - Category
|
|
Malignant Squamous Cell Neoplasm
|
Squamous Cell Carcinoma Of Skin
|
|
|
| Bladder Urothelial Carcinoma |
|
Bladder Transitional Cell Carcinoma
|
Transitional Cell Carcinoma Of Bladder
|
|
Transitional Cell Carcinoma Of The Bladder
|
Urinary Bladder Urothelial Carcinoma
|
|
Urothelial Bladder Carcinoma
|
Carcinoma Transitional Cell Bladder
|
|
Tcc - [Transitional Cell Carcinoma] Of Bladder
|
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
Rubinstein-Taybi Syndrome
|
Broad Thumb-Hallux Syndrome
|
|
Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
|
Rubinstein Syndrome
|
Broad Thumbs-Halluces Syndrome
|
|
Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
|
Rsts Deletion Syndrome
|
Proximal Chromosome 16p13.3 Deletion Syndrome
|
|
16p13.3 Deletion Syndrome
|
Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
|
|
Rts
|
|
|
| Otitis Media |
|
Opsoclonus-Myoclonus Syndrome
|
OMS
|
|
Otitis Media, Susceptibility To
|
Kinsbourne Syndrome
|
|
Otitis Media, Chronic/Recurrent
|
Come/Rom
|
|
Ataxo-Opso-Myoclonus Syndrome
|
Dancing Eye Syndrome
|
|
Dancing Eye-Dancing Feet Syndrome
|
Oma Syndrome
|
|
Opsoclonus Myoclonus Syndrome
|
Opsoclonus-Myoclonus-Ataxia Syndrome
|
|
Poma Syndrome
|
Paraneoplastic Opsoclonus-Myoclonus
|
|
Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome
|
Opsoclonus Myoclonus
|
|
OM
|
{Otitis Media, Susceptibility To}
|
|
Infectious Otitis Media
|
|
|
| High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit |
|
Hgbl-Dh/Th
|
High Grade B-Cell Lymphoma With Myc And Bcl2 Or Bcl6 Rearrangements
|
|
High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement
|
|
|
| Coffin-Siris Syndrome 1 |
|
Coffin-Siris Syndrome
|
Fifth Digit Syndrome
|
|
Css
|
CSS1
|
|
Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
|
Hhid
|
Dwarfism-Onychodysplasia
|
|
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
|
Autosomal Dominant Mental Retardation 12
|
|
Short Stature-Onychodysplasia.
|
Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
|
|
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
|
Short Stature-Onychodysplasia
|
|
Coffin-Siris Syndrome, Type 1
|
Mental Retardation, Autosomal Dominant, Type 12
|
|
|
| Paraganglioma |
|
Chemodectoma
|
Glomus Body Tumor
|
|
Paragangliomas
|
Carotid Body Paraganglioma
|
|
Extra-Adrenal Paraganglioma
|
|
|
| Hyperinsulinism |
|
|
| Breast Malignant Phyllodes Tumor |
|
Malignant Cystosarcoma Phyllodes
|
Malignant Phyllodes Tumor Of Breast
|
|
Malignant Phyllodes Tumour Of Breast
|
Phyllodes Breast Tumor
|
|
Phyllodes Tumor Of The Breast
|
Breast Malignant Phyllodes Tumour
|
|
Malignant Mammary Phyllodes Tumor
|
Malignant Mammary Phyllodes Tumour
|
|
Malignant Phyllodes Neoplasm
|
Malignant Phyllodes Tumor
|
|
Malignant Phyllodes Tumour
|
Phyllodes Breast Neoplasm
|
|
Phyllodes Breast Tumour
|
Phyllodes Tumor, Malignant
|
|
Cystosarcoma Phyllodes
|
Cystosarcoma Phyllodes Of The Breast
|
|
Phylloides Tumor
|
Malignant Breast Phyllodes Tumor
|
|
Breast Phyllodes Tumor
|
Phyllodes Tumor
|
|
Malignant Phyllodes Cystosarcoma Of Unspecified Site
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| 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
|
|
|
| Anus Basaloid Carcinoma |
|
Basaloid Carcinoma Of The Anus
|
Anal Basaloid Carcinoma
|
|
|
| Familial Isolated Trichomegaly |
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| 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
|
|
|
| Hypoplastic Left Heart Syndrome |
|
Hlhs
|
Heart, Hypoplastic Left, Syndrome
|
|
Hypoplasia Of The Left Heart
|
Left Heart Hypoplasia Syndrome
|
|
Hlhs - [Hypoplastic Left Heart Syndrome]
|
Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
|
|
Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome
|
Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
|
|
Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia
|
Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
|
|
Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Childhood Medulloblastoma |
|
Medulloblastoma, Childhood
|
Pediatric Medulloblastoma
|
|
Medulloblastoma Childhood
|
|
|
| Kbg Syndrome |
|
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
|
|
|
| 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
|
|
|
| Scoliosis |
|
|
| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
|
Pervasive Development Disorder
|
Autistic Behavior
|
|
Autistic Disorder
|
Autistic
|
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
|
Childhood Autism
|
Kanner Syndrome
|
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
| Autosomal Dominant Intellectual Developmental Disorder 31 |
|
Autosomal Dominant Non-Syndromic Intellectual Disability 31
|
Autosomal Dominant Mental Retardation 31
|
|
Mrd31
|
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Mental Retardation, X-Linked 3
|
Methylmalonic Acidemia With Homocystinuria, Type Cblx
|
|
MAHCX
|
Intellectual Developmental Disorder, X-Linked 3
|
|
Xlid3
|
Mrx3
|
|
Methylmalonic Acidemia And Homocysteinemia Cblx Type
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx
|
|
Methylmalonic Aciduria With Homocystinuria, Type Cblx
|
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
|
|
Methylmalonic Aciduria And Homocysteinemia, Cblx Type
|
Methylmalonic Aciduria And Homocysteinemia , Cblx Type
|
|
Mental Retardation, X-Linked, Type 3
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Syndromic X-Linked Intellectual Disability Nascimento Type |
|
Mental Retardation, X-Linked Syndromic, Nascimento-Type
|
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 93 |
|
Mrx93
|
X-Linked Mental Retardation With Macrocephaly
|
|
|
| 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
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Fanconi Anemia Estren-Dameshek Variant
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Fanconis Anemia
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| Autism |
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Autistic Disorder
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Autism Susceptibility 1
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Childhood Autism
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Autistic Disorder Of Childhood Onset
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Infantile Autism
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Kanner'S Syndrome
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Autistic
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| Li-Fraumeni Syndrome |
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Sarcoma Family Syndrome Of Li And Fraumeni
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Sbla Syndrome
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LFS
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Li-Fraumeni Familiar Cancer Susceptibility Syndrome
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Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome
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Lfs1
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Li Fraumeni Syndrome
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Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
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Lfl
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Sbla Syndrome Li-Fraumeni-Like Syndrome
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Li-Fraumeni Syndrome 1
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| Mantle Cell Lymphoma |
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Lymphoma, Mantle Cell
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Lcm
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Mcl
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Mantle Zone Lymphoma
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Lymphoma Mantle-Cell
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Lymphoma, Mantle-Cell
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Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse
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Malignant Lymphoma - Lymphocytic, Intermediate Differentiation
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Diffuse Small Cleaved-Cell Lymphoma
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Diffuse Small Cleaved Cell Malignant Lymphoma
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Small Cleaved Cell Non-Hodgkin Lymphoma
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Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma
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Malignant Lymphomatous Polyposis
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Malignant Small Cell, Noncleaved, Diffuse Lymphoma
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Malignant Undifferentiated Cell, Non-Burkitt Lymphoma
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Cleaved Cell Lymphoma
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Small Cell Mantle Cell Lymphoma
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Small Cleaved Cell Malignant Lymphoma
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| Atrial Heart Septal Defect |
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Atrial Septal Defect
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Atrial Septal Defects
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Atrioseptal Defect
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Auricular Septal Defect
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Congenital Atrial Septal Defect
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Interatrial Septal Defect
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Interauricular Septal Defect
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Heart Septal Defects, Atrial
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Septal Defect, Atrial
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| Rasopathy |
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Ras/Mitogen-Activated Protein Kinase Syndrome
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| Orofacial Cleft |
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| Coloboma Of Macula |
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Coloboma
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Congenital Ocular Coloboma
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Microphthalmia, Isolated, With Coloboma
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Agenesis Of Macula
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Hereditary Macular Coloboma
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Ocular Coloboma
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Coloboma Of Eye
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Macular Coloboma
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Uveoretinal Coloboma
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| Tooth Agenesis |
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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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| Tetralogy Of Fallot |
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TOF
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Fallot Tetralogy
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Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle
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Tetrad Of Fallot
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Fallot Tetrad
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Fallot Disease
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Fallot Complex
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Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
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Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle
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Interventricular Septal Defect, In Tetralogy Of Fallot
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Ventricular Septal Defect With Obstructed Right Ventricular Outflow
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Tof - [Tetralogy Of Fallot]
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Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]
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Pulmonary Atresia, Ventricular Septal Defect And Mapcas
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Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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| Leukemia, Acute Myeloid |
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Acute Myeloid Leukemia
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Leukemia, Acute Myelogenous
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Acute Myelogenous Leukemia
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AML
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Leukemia, Acute Myeloid, Susceptibility To
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Acute Myeloblastic Leukemia
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Leukemia, Acute Myeloid, Reduced Survival In, Somatic
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Acute Myeloid Leukaemia
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Leukemia, Myelocytic, Acute
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Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
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Secondary Aml
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Acute Myelocytic Leukemia
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Acute Myeloid Leukemia, Somatic
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Leukemia, Acute Myeloid, Somatic
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Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
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Acute Myeloblastic Leukaemia
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Acute Myelogenous Leukaemia
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Aml - Acute Myeloid Leukemia
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Acute Myeloid Leukemia With Cebpa Somatic Mutations
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Aml With Cebpa Somatic Mutations
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Inherited Acute Myeloid Leukemia
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Familial Aml
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Inherited Aml
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Pure Familial Aml
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Pure Familial Acute Myeloid Leukemia
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Secondary Acute Myeloid Leukemia
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Therapy-Related Aml And Myelodysplastic Syndrome
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Acute Myeloid Leukemia, Secondary
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Acute Non-Lymphoblastic Leukemia
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Acute Non-Lymphocytic Leukemia
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Acute Biphenotypic Leukemia
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Acute Undifferentiated Leukemia
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Acute Myeloblastic Leukaemia With Multilineage Dysplasia
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Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
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Acute Myeloid Leukaemia With Myelodysplasia-Related Features
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