| Diseases |
Alias |
|
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Epileptic Encephalopathy, Early Infantile, 85, With Or Without Midline Brain Defects
|
DEE85
|
|
Eiee85
|
Developmental And Epileptic Encephalopathy, 85, With Or Without Midline Brain Defects
|
|
Developmental And Epileptic Encephalopathy 85, With Or Without Midline Brain Defects
|
|
|
| Cornelia De Lange Syndrome 2 |
|
CDLS2
|
Cornelia De Lange Syndrome, X-Linked
|
|
Cdls, X-Linked
|
Cornelia De Lange Syndrome X-Linked
|
|
Cornelia De Lange Syndrome, Type 2
|
Congenital Muscular Hypertrophy-Cerebral Syndrome
|
|
|
| Hypertonia |
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Wiedemann-Steiner Syndrome |
|
WDSTS
|
Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
|
|
Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome
|
Wiedemann Grosse Dibbern Syndrome
|
|
Kmt2a-Related Neurodevelopmental Disorder
|
Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay
|
|
Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay
|
Wss
|
|
Growth Deficiency And Mental Retardation With Facial Dysmorphism
|
|
|
| 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
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Semilobar Holoprosencephaly |
|
|
| Cornelia De Lange Syndrome 1 |
|
De Lange Syndrome
|
CDLS1
|
|
Cdl
|
Cdls
|
|
Typus Degenerativus Amstelodamensis
|
Brachmann-De Lange Syndrome
|
|
Bdls
|
Amstelodamensis Typus Degenerativus
|
|
Cornelia De Lange Syndrome, Type 1
|
|
|
| Ataxia-Telangiectasia |
|
Ataxia Telangiectasia
|
Louis-Bar Syndrome
|
|
AT
|
At1
|
|
Ataxia-Telangiectasia Syndrome
|
Ataxia - Telangiectasia Variant
|
|
Boder-Sedgwick Syndrome
|
Louis Bar Syndrome
|
|
Cerebello-Oculocutaneous Telangiectasia
|
Immunodeficiency With Ataxia Telangiectasia
|
|
A-T
|
Ataxia Telangiectasia Syndrome
|
|
Atm
|
Telangiectasia, Cerebello-Oculocutaneous
|
|
Ataxia-Telangiectasia Variant
|
|
|
| Familial Isolated Trichomegaly |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Roberts-Sc Phocomelia Syndrome |
|
Roberts Syndrome
|
Sc Phocomelia Syndrome
|
|
RBS
|
Long Bone Deficiencies Associated With Cleft Lip-Palate
|
|
Sc Pseudothalidomide Syndrome
|
Appelt-Gerken-Lenz Syndrome
|
|
Pseudothalidomide Syndrome
|
Tetraphocomelia-Cleft Palate Syndrome
|
|
Hypomelia Hypotrichosis Facial Hemangioma Syndrome
|
Roberts Syndrome/Sc Phocomelia
|
|
Roberts Tetraphocomelia Syndrome
|
Sc Syndrome
|
|
Sc Phocomelia
|
Sc Disease
|
|
Sc
|
Hemoglobin Sc Disease
|
|
|
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Cornelia De Lange Syndrome 3
|
CDLS3
|
|
Cornelia De Lange Syndrome, Type 3
|
|
|
| Nijmegen Breakage Syndrome |
|
Berlin Breakage Syndrome
|
NBS
|
|
Microcephaly, Normal Intelligence And Immunodeficiency
|
Ataxia-Telangiectasia Variant
|
|
Ataxia-Telangiectasia Variant V1
|
Seemanova Syndrome Ii
|
|
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome
|
Seemanova Syndrome Type 2
|
|
At-V1
|
Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
|
|
Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence
|
Immunodeficiency, Microcephaly, And Chromosomal Instability
|
|
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome
|
Microcephaly Immunodeficiency Lymphoreticuloma
|
|
Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies
|
Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
|
|
Seemanova Syndrome 2
|
Ataxia-Telangiectasia Variant 1
|
|
Seemanova Syndrome
|
At V1
|
|
Ataxia-Telangiectasia, Variant 1
|
Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
|
|
V-At
|
Ataxia Telangiectasia Variant V1
|
|
|
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cornelia De Lange Syndrome 4
|
CDLS4
|
|
Cornelia De Lange Syndrome, Type 4
|
|
|
| Chronic Atrial And Intestinal Dysrhythmia |
|
CAID
|
Caid Syndrome
|
|
Cohesinopathy Affecting Heart And Gut Rhythm
|
Chronic Atrial Intestinal Dysrhythmia Syndrome
|
|
Chronic Atrial And Intestinal Dysrhythmia Syndrome
|
Chronic Atrial Dysrhythmia-Intestinal Motility Disorder
|
|
Dysrhythmia, Atrial And Intestinal, Chronic
|
|
|
| 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
|
|
|
| Glass Syndrome |
|
Chromosome 2q32-Q33 Deletion Syndrome
|
Satb2-Associated Syndrome
|
|
2q33.1 Microdeletion Syndrome
|
Sas
|
|
2q32-Q33 Microdeletion Syndrome
|
2q32q33 Microdeletion Syndrome
|
|
Monosomy 2q32
|
Monosomy 2q32-Q33
|
|
Monosomy 2q32q33
|
2q32 Deletion Syndrome
|
|
Del(2)(Q32)
|
Del(2)(Q32q33)
|
|
GLASS
|
2q32q33 Microdeletion Syndromes
|
|
Satb2 Syndrome
|
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
|
|
Del(2)(Q33.1)
|
Monosomy 2q33.1
|
|
Satb2-Associated Syndrome Due To A Pathogenic Variant
|
Satb2-Associated Syndrome Due To A Point Mutation
|
|
Satb2 Associated Disorder
|
|
|
| Eyelid Disease |
|
Eyelid Diseases
|
Eyelid Disorders
|
|
|
| Warsaw Breakage Syndrome |
|
|
| Autosomal Dominant Intellectual Developmental Disorder 31 |
|
Autosomal Dominant Non-Syndromic Intellectual Disability 31
|
Autosomal Dominant Mental Retardation 31
|
|
Mrd31
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Developmental And Epileptic Encephalopathy |
|
Encephalopathy, Developmental And Epileptic
|
|
|
| Trichorhinophalangeal Syndrome, Type Ii |
|
Langer-Giedion Syndrome
|
Lgs
|
|
Trichorhinophalangeal Syndrome Type Ii
|
Trichorhinophalangeal Syndrome Type 2
|
|
TRPS2
|
Monosomy 8q24.1
|
|
Chromosome 8q24.1 Deletion Syndrome
|
Deletion 8q24.1
|
|
Giedion-Langer Syndrome
|
Trichorhinophalangeal Dysplasia Type Ii
|
|
Langer Giedion Syndrome
|
Trps 2
|
|
Tricho-Rhino-Phalangeal Syndrome Type Ii
|
Trichorhinophalangeal Syndrome With Exostosis
|
|
Trps Ii
|
Tricho-Rhino-Phalangeal Syndrome 2
|
|
8q24.1 Microdeletion Syndrome
|
8q24.1 Deletion Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Pitt-Hopkins Syndrome |
|
PTHS
|
Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
|
|
Mental Retardation, Syndromal, With Intermittent Hyperventilation
|
Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
|
|
Pitt Hopkins Syndrome
|
Phs
|
|
Encephalopathy Severe Epileptic With Autonomic Dysfunction
|
|
|
| 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
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Hypertrichosis |
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Orofacial Cleft |
|
|
| Leukemia, Acute Myeloid |
|
Acute Myeloid Leukemia
|
Leukemia, Acute Myelogenous
|
|
Acute Myelogenous Leukemia
|
AML
|
|
Leukemia, Acute Myeloid, Susceptibility To
|
Acute Myeloblastic Leukemia
|
|
Leukemia, Acute Myeloid, Reduced Survival In, Somatic
|
Acute Myeloid Leukaemia
|
|
Leukemia, Myelocytic, Acute
|
Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
|
|
Secondary Aml
|
Acute Myelocytic Leukemia
|
|
Acute Myeloid Leukemia, Somatic
|
Leukemia, Acute Myeloid, Somatic
|
|
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic
|
Acute Myeloblastic Leukaemia
|
|
Acute Myelogenous Leukaemia
|
Aml - Acute Myeloid Leukemia
|
|
Acute Myeloid Leukemia With Cebpa Somatic Mutations
|
Aml With Cebpa Somatic Mutations
|
|
Inherited Acute Myeloid Leukemia
|
Familial Aml
|
|
Inherited Aml
|
Pure Familial Aml
|
|
Pure Familial Acute Myeloid Leukemia
|
Secondary Acute Myeloid Leukemia
|
|
Therapy-Related Aml And Myelodysplastic Syndrome
|
Acute Myeloid Leukemia, Secondary
|
|
Acute Non-Lymphoblastic Leukemia
|
Acute Non-Lymphocytic Leukemia
|
|
Acute Biphenotypic Leukemia
|
Acute Undifferentiated Leukemia
|
|
Acute Myeloblastic Leukaemia With Multilineage Dysplasia
|
Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
|
|
Acute Myeloid Leukaemia With Myelodysplasia-Related Features
|
|
|
