| Diseases |
Alias |
|
| 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
|
|
|
| Sotos Syndrome 1 |
|
Sotos1
|
Sotos Syndrome, Type 1
|
|
Sotos' Syndrome
|
|
|
| Beckwith-Wiedemann Syndrome |
|
Wiedemann-Beckwith Syndrome
|
BWS
|
|
Exomphalos-Macroglossia-Gigantism Syndrome
|
Emg Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation
|
Emg Abnormality
|
|
Wbs
|
Exomphalos Macroglossia Gigantism Syndrome
|
|
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation
|
Macroglossia Exomphalos Gigantism
|
|
|
| Hypertelorism |
|
Eyes Wide Apart
|
Eyes Widely Set
|
|
Hypertelorism Of Orbit
|
Ocular Hypertelorism
|
|
Orbital Separation Excessive
|
|
|
| Uvula, Bifid |
|
Bifid Uvula
|
Uvular Cleft
|
|
Uvula, Cleft
|
Bifidity Of The Uvula
|
|
|
| Scoliosis |
|
|
| Farsightedness |
|
Hypermetropia
|
Hyperopia
|
|
Far-Sightedness
|
Farsighted
|
|
Long-Sighted
|
Long-Sightedness
|
|
|
| Pectus Carinatum |
|
Carinatum Deformity Of The Chest
|
|
|
| Patent Foramen Ovale |
|
Atrial Septal Defect Within Oval Fossa
|
Foramen Ovale Patent
|
|
Ostium Secundum Atrial Septal Defect
|
Atrial Septal Defect, Ostium Secundum Type
|
|
Foramen Ovale, Patent
|
Defect, Patent Or Persistent, Ostium Secundum
|
|
Ostium Secundum Type Atrial Septal Defect
|
Persistent Ostium Secundum
|
|
Asd Ostium Secundum Type
|
Ostium Secundum Asd
|
|
Osasd
|
Asd, Ostium Secundum Type
|
|
Pfo - [Patent Foramen Ovale]
|
Open Foramen Ovale
|
|
Open Oval Foramen
|
Persistent Foramen Ovale
|
|
Secundum Atrial Septal Defect
|
|
|
| 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
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Hydrops Fetalis, Nonimmune |
|
Hydrops Fetalis
|
Non-Immune Hydrops Fetalis
|
|
NIHF
|
Familial Non-Immune Hydrops Fetalis
|
|
Hydrops Fetalis Nonimmune
|
Idiopathic Hydrops Fetalis
|
|
Hb Bart'S Hydrops Fetalis
|
Alpha-Thalassemia Hydrops Fetalis
|
|
Alpha-Thalassemia Major
|
Hemoglobin Bart'S Hydrops Fetalis
|
|
Homozygous Alpha0-Thalassemia
|
Fetal Anasarca
|
|
Fetal Hydrops
|
Generalized Fetal Edema
|
|
Hf
|
Non-Immune Hf
|
|
Non-Immune Fetal Edema
|
Non-Immune Fetal Hydrops
|
|
Hydrops Fetalis, Non-Immune
|
Hemoglobin Bart'S Hydrops Syndrome
|
|
|
| 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
|
|
|
| Childhood Acute Myeloid Leukemia |
|
Childhood Acute Myeloid Leukaemia
|
Paediatric Acute Myeloid Leukaemia
|
|
Pediatric Acute Myeloid Leukemia
|
|
|
| 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
|
|
|
| 5q35 Microduplication Syndrome |
|
|
| Overgrowth Syndrome |
|
Overgrowth
|
Congenital Malformation Syndromes Involving Early Overgrowth
|
|
|
| Holoprosencephaly 2 |
|
HPE2
|
Holoprosencephaly-2
|
|
Holoprosencephaly, Type 2
|
|
|
| Deletion 5q35 |
|
Del (5)(Q35)
|
Del (5)(Qter)
|
|
Distal 5q Deletion
|
Monosomy 5q35
|
|
Telomeric Deletion 5q
|
Chromosome 5, Monosomy 5q35
|
|
|
| Myeloid Leukemia |
|
Myeloid Leukaemia
|
Leukaemia Myelogenous
|
|
Leukemia Myelogenous
|
Myeloid Granulocytic Leukaemia
|
|
Myeloid Granulocytic Leukemia
|
Non-Lymphocytic Leukemia
|
|
Leukemia, Myeloid
|
Granulocytic Leukaemia
|
|
Myelogenous Leukaemia
|
Myeloid Leukaemia, Unspecified, Without Mention Of Remission
|
|
|
| Sotos Syndrome 2 |
|
Sotos2
|
Sotos Syndrome, Type 2
|
|
|
| Pre-Eclampsia |
|
Preeclampsia
|
Gestational Hypertension
|
|
Hypertension Induced By Pregnancy
|
Pre-Eclamptic Toxaemia
|
|
Pregnancy Associated Hypertension
|
Proteinuric Hypertension Of Pregnancy
|
|
Hypertension, Pregnancy-Induced, Susceptibility To
|
Preeclampsia/Eclampsia
|
|
Pregnancy Toxemia
|
Toxaemia Of Pregnancy
|
|
Gestational Proteinuric Hypertension
|
Pregnancy-Induced Hypertension
|
|
Toxemia Of Pregnancy
|
Preeclampsia, Susceptibility To
|
|
Transient Hypertension Of Pregnancy
|
Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria
|
|
Gestational Hypertension Nos
|
Mild Proteinuric Hypertension Of Pregnancy
|
|
Pih - [Pregnancy-Induced Hypertension]
|
Pregnancy-Induced Hypertension Nos
|
|
Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria
|
Pe - [Pre-Eclampsia]
|
|
Pre-Eclampsia Nos
|
Pre-Eclamptic Nos
|
|
Pregnancy Pre-Eclampsia
|
Puerperal Pre-Eclampsia
|
|
Pre-Eclampsia Toxaemia
|
Toxaemia In Pregnancy
|
|
Pet - [Pre-Eclamptic Toxaemia]
|
Maternal Toxaemia
|
|
|
| Marshall-Smith Syndrome |
|
MRSHSS
|
Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome
|
|
Mss
|
|
|
| Omphalocele |
|
Omphalocoele
|
Congenital Omphalocele
|
|
Exomphalos
|
Exumbilication
|
|
|
| Tatton-Brown-Rahman Syndrome |
|
TBRS
|
Dnmt3a Overgrowth Syndrome
|
|
Tatton-Brown-Rahman Overgrowth Syndrome
|
Dos
|
|
Dnmt3a-Related Overgrowth Syndrome
|
Doid:0112339
|
|
Dose
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
MRD1
|
Autosomal Dominant Non-Syndromic Intellectual Disability 1
|
|
Mental Retardation, Autosomal Dominant 1
|
Autosomal Dominant Intellectual Developmental Disorder 1
|
|
|
| Lung Squamous Cell Carcinoma |
|
Squamous Cell Carcinoma Of Lung
|
Squamous Cell Lung Carcinoma
|
|
Epidermoid Cell Carcinoma Of The Lung
|
Squamous Cell Lung Cancer
|
|
|
| Ganglioglioma |
|
Childhood Ganglioglioma
|
Adult Ganglioglioma
|
|
Cns Ganglioglioma
|
Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Sotos Syndrome 3 |
|
Sotos3
|
Sotos Syndrome, Type 3
|
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Laryngeal Benign Neoplasm |
|
Laryngeal Tumor
|
Larynx Neoplasm
|
|
Neoplasm Of Larynx
|
Laryngeal Cancer
|
|
Laryngeal Carcinoma
|
Cancer Of Larynx
|
|
|
| Subglottis Benign Neoplasm |
|
|
| Macroglossia |
|
Congenital Macroglossia
|
Enlarged Tongue
|
|
Giant Tongue
|
Acquired Macroglossia Nos
|
|
Congenital Hypertrophy Of Tongue
|
|
|
| Cornelia De Lange Syndrome 5 |
|
CDLS5
|
Cornelia De Lange Syndrome, Type 5
|
|
|
| Childhood Leukemia |
|
|
| Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
Catshl Syndrome
|
Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome
|
|
|
| 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
|
|
|
| Wolf-Hirschhorn Syndrome |
|
Pitt-Rogers-Danks Syndrome
|
WHS
|
|
Chromosome 4p16.3 Deletion Syndrome
|
Wittwer Syndrome
|
|
4p- Syndrome
|
Pitt Syndrome
|
|
4p Deletion Syndrome
|
Distal Deletion 4p
|
|
Distal Monosomy 4p
|
Telomeric Deletion 4p
|
|
Prds
|
4p Syndrome
|
|
Chromosome 4p Syndrome
|
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
|
Wolf Syndrome
|
Chromosome 4p Deletion Syndrome
|
|
Chromosome 4p Monosomy
|
Del Syndrome
|
|
Monosomy 4p
|
Partial Monosomy 4p
|
|
Chromosome 4 Short Arm Deletion
|
|
|
| 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
|
|
|
| Cowden Syndrome 1 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
Pten Hamartoma Tumor Syndrome
|
|
Lhermitte-Duclos Disease
|
Bannayan-Zonana Syndrome
|
|
Phts
|
Riley-Smith Syndrome
|
|
Bzs
|
Ruvalcaba-Myhre-Smith Syndrome
|
|
Multiple Hamartoma Syndrome
|
Rmss
|
|
Brrs
|
Dysplastic Gangliocytoma Of The Cerebellum
|
|
CWS1
|
Cs
|
|
Cd
|
Mham
|
|
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
Macrocephaly Multiple Lipomas And Hemangiomata
|
|
Bannayan-Ruvalcaba-Riley Syndrome
|
Myhre-Riley-Smith Syndrome
|
|
LDD
|
Cerebelloparenchymal Disorder Vi
|
|
Hamartoma Syndrome, Multiple
|
Bbrs
|
|
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
|
Macrocephaly, Multiple Lipomas, And Hemangiomata
|
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomas
|
Ruvalcaba -Myhre-Smith Syndrome
|
|
Ruvalcaba-Myhre Syndrome
|
Cowden Disease
|
|
Macrocephaly Pseudopapilledema And Multiple Hemangiomata
|
Cerebellar Granule Cell Hypertrophy And Megalencephaly
|
|
Cpd6
|
Pten Hamartoma Tumor Syndromes
|
|
Cowden Syndrome, Type 1
|
|
|
| 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
|
|
|
| Myelodysplastic Syndrome |
|
Myelodysplastic Syndromes
|
Myelodysplasia
|
|
MDS
|
Myelodysplastic Syndrome Included
|
|
Myelodysplastic Syndrome, Susceptibility To, Included
|
Myelodysplastic Syndrome, Somatic
|
|
Myelodysplastic Syndrome, Susceptibility To
|
|
|
| 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
|
|
|
| Heart Disease |
|
Heart Failure
|
Congenital Heart Disease
|
|
Heart Diseases
|
Congenital Heart Defects
|
|
Congenital Heart Defect
|
Heart Malformation
|
|
Congenital Anomaly Of Heart
|
Heart Defect
|
|
Heart-Congenital Defect
|
Congenital Heart Disorder
|
|
Heart Defects Congenital
|
Heart Defects, Congenital
|
|
Heart Defects
|
Heart Disease, Congenital
|
|
Disease, Heart, Congenital
|
Congestive Heart Failure
|
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
HSN1E
|
Hsn Ie
|
|
Hereditary Sensory Neuropathy Type 1e
|
Hereditary Sensory Neuropathy Type Ie
|
|
Hsan 1
|
Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
|
|
Hereditary Sensory Neuropathy Type 1
|
Hsn1
|
|
Hereditary Sensory And Autonomic Neuropathy Type 1
|
Neuropathy Hereditary Sensory And Autonomic Type 1
|
|
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant
|
Neuropathy, Hereditary Sensory, 1e
|
|
Neuropathy Hereditary Sensory With Hearing Loss And Dementia
|
Neuropathy, Hereditary Sensory, Type I
|
|
Neuropathy, Sensory, Hereditary, Type Ie
|
Hereditary Sensory And Autonomic Neuropathy Type Ie
|
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
|
|
| Learning Disability |
|
Learning Disabilities
|
Learning Disorders
|
|
Academic Skill Disorder
|
Learning Disorder
|
|
|
| Syndromic Intellectual Disability |
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| 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
|
|
|
| Patent Ductus Arteriosus 1 |
|
Patent Ductus Arteriosus
|
PDA1
|
|
Pda
|
Ductus Arteriosus, Patent
|
|
Patent Ductus Arteriosus, Susceptibility To
|
Patent Ductus Botalli
|
|
Patency Of The Ductus Arteriosus
|
Patent Ductus Arteriosus Familial
|
|
Ductus Arteriosus Patent
|
Patent Ductus Arteriosus - Persisting Type
|
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Atrial Heart Septal Defect |
|
Atrial Septal Defect
|
Atrial Septal Defects
|
|
Atrioseptal Defect
|
Auricular Septal Defect
|
|
Congenital Atrial Septal Defect
|
Interatrial Septal Defect
|
|
Interauricular Septal Defect
|
Heart Septal Defects, Atrial
|
|
Septal Defect, Atrial
|
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
