| Diseases |
Alias |
|
| Brain Germinoma |
|
Intracranial Germinoma
|
Germinoma Of The Brain
|
|
|
| Chromosome 16p11.2 Deletion Syndrome |
|
Distal 16p11.2 Microdeletion Syndrome
|
16p11.2 Deletion Syndrome
|
|
Del(16)(P11.2)
|
Microdeletion 16p11.2
|
|
Monosomy 16p11.2
|
Autism, Susceptibility To, 14a
|
|
Auts14a
|
Distal Del(16)(P11.2)
|
|
Distal Monosomy 16p11.2
|
|
|
| Waardenburg Syndrome, Type 2d |
|
Waardenburg Syndrome Type 2d
|
WS2D
|
|
Waardenburg Syndrome, Type Iid
|
Waardenburg Syndrome Type Iid
|
|
Waardenburg Syndrome 2d
|
|
|
| Microcephaly 11, Primary, Autosomal Recessive |
|
MCPH11
|
Primary Autosomal Recessive Microcephaly 11
|
|
Microcephaly, Type 11, Primary, Autosomal Recessive
|
|
|
| Core Binding Factor Acute Myeloid Leukemia |
|
Cbf Acute Myeloid Leukemia
|
Cbf-Aml
|
|
Core-Binding Factor Aml
|
|
|
| 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
|
|
|
| Developmental Coordination Disorder |
|
|
| 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
|
|
|
| Central Nervous System Germ Cell Tumor |
|
Central Nervous System Germ Cell Tumour
|
Germ Cell Tumor Of The Cns
|
|
Germ Cell Tumour Of The Cns
|
|
|
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dysplasia, Spondyloepimetaphyseal, With Joint Laxity
|
Semdjl
|
|
Spondyloepimetaphyseal Dysplasia Joint Laxity
|
Semd-Jl
|
|
Semdjl1
|
Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
|
|
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
|
|
|
| Kleefstra Syndrome 1 |
|
9q Subtelomeric Deletion Syndrome
|
KLEFS1
|
|
Chromosome 9q34.3 Deletion Syndrome
|
9q- Syndrome
|
|
9q34 Deletion Syndrome
|
Kleefstra Syndrome Due To 9q34 Microdeletion
|
|
Kleefstra Syndrome
|
9q-Syndrome
|
|
9qstds
|
Kleefstra Syndrome Due To 9q Subtelomeric Deletion
|
|
Kleefstra Syndrome Due To Del(9)(Q34)
|
Kleefstra Syndrome Due To Monosomy 9q34
|
|
Chromosome 9q Subtelomeric Deletion Syndrome
|
Kleefstra Syndrome, Type 1
|
|
|
| Hair Follicle Neoplasm |
|
Hair Matrix Neoplasm
|
Hair Matrix Tumour
|
|
|
| Childhood Brain Stem Glioma |
|
Pediatric Glioma Of The Brainstem
|
|
|
| Familial Isolated Trichomegaly |
|
|
| Lissencephaly 1 |
|
LIS1
|
Classic Lissencephaly
|
|
Ils
|
Subcortical Laminar Heterotopia
|
|
Lissencephaly Due To Lis1 Mutation
|
Lissencephaly Sequence, Isolated
|
|
Lissencephaly, Classic
|
Pafah1b1-Related Lissencephaly
|
|
Classical Lissencephaly
|
Lissencephaly Type 1
|
|
Lissencephaly-1
|
Subcortical Band Heterotopia
|
|
Double Cortex
|
Lissencephaly Classic
|
|
Lissencephaly Sequence Isolated
|
Isolated Lissencephaly Sequence
|
|
Type 1 Lissencephaly
|
Lissencephaly Syndrome Type 1
|
|
SBH
|
Sclh
|
|
Lissencephaly, Type 1
|
Type I Lissencephaly
|
|
|
| Glycogen Storage Disease Ia |
|
Von Gierke Disease
|
Glycogen Storage Disease Type I
|
|
Glycogen Storage Disease I
|
Hepatorenal Form Of Glycogen Storage Disease
|
|
Hepatorenal Glycogenosis
|
Glucose-6-Phosphatase Deficiency
|
|
Glycogen Storage Disease, Type I
|
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia
|
|
GSD1A
|
Gsd1
|
|
Von Gierke'S Disease
|
Glycogen Storage Disease Type 1a
|
|
Glycogen Storage Disease 1a
|
Glucose-6-Phosphate Transport Defect
|
|
Gsd Ia
|
Deficiency Of Glucose-6-Phosphatase
|
|
Glycogenosis Type I
|
Glucose-6-Phosphatase Deficiency Glycogen Storage Disease
|
|
Glycogenosis Type 1
|
Glucose-6-Phosphate Deficiency
|
|
Gsd I
|
Gsd Type I
|
|
G6p Deficiency Type 1a
|
Gsd Due To G6p Deficiency Type 1a
|
|
Gsd Due To G6p Deficiency Type Ia
|
Gsd Type 1a
|
|
Gsdia
|
Glycogen Storage Disease Due To G6p Deficiency Type Ia
|
|
Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a
|
Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia
|
|
Glycogenosis Type Ia
|
Gsd-Ia
|
|
Storage Disease, Glycogen, Type 1a
|
Glycogen Storage Disease Type Ia
|
|
|
| Sporadic Breast Cancer |
|
Sporadic Breast Carcinoma
|
|
|
| Chromosomal Deletion Syndrome |
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Velocardiofacial Syndrome |
|
Shprintzen Syndrome
|
VCFS
|
|
Chromosome 22q11.2 Deletion Syndrome
|
Vcf Syndrome
|
|
Shprintzen Vcf Syndrome
|
Vcf-Velocardiofacial Syndrome
|
|
Velo-Cardio-Facial Syndrome
|
Digeorge Syndrome
|
|
22q11 Deletion Syndrome
|
Conotruncal Anomaly Face Syndrome
|
|
|
| Pilomatrixoma |
|
Pilomatricoma
|
PTR
|
|
Epithelioma Calcificans Of Malherbe
|
Benign Pilomatricoma
|
|
Calcifying Epithelioma Of Malherbe
|
Pilomatricoma, Somatic
|
|
Benign Pilomatrixoma
|
Malherbe Calcifying Epithelioma
|
|
|
| Cutaneous Fibrous Histiocytoma |
|
Dermatofibroma
|
Fibrohistiocytic Tumor
|
|
Benign Cutaneous Fibrous Histiocytoma
|
Fibrous Histiocytoma Of Skin
|
|
Fibrous Xanthoma Of Skin
|
Pleomorphic Fibroma
|
|
Sclerosing Angioma
|
Sclerosing Angioma Of Skin
|
|
Fibrous Histiocytoma
|
|
|
| Specific Developmental Disorder |
|
|
| 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
|
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
MDC1A
|
Lama2-Related Muscular Dystrophy
|
|
Atrophie Blanche
|
Muscular Dystrophy, Congenital Merosin-Deficient
|
|
Congenital Merosin-Deficient Muscular Dystrophy 1a
|
Merosin-Negative Congenital Muscular Dystrophy
|
|
Muscular Dystrophy White Matter Spongiosis
|
Merosin Deficient Congenital Muscular Dystrophy
|
|
Muscular Dystrophy Congenital, Merosin Negative
|
Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
|
|
Cmd1a
|
Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
|
|
Congenital Muscular Dystrophy Type 1a
|
Laminin Alpha-2 Deficiency
|
|
Merosin-Deficient Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital, Merosin-Deficient
|
|
Lama2 Md
|
Laminin Alpha 2 Deficiency
|
|
Laminin Alpha-2 Deficient Muscular Dystrophy
|
Merosin-Deficient Muscular Dystrophy
|
|
Muscular Dystrophy Due To Lama2 Deficiency
|
Merosin-Deficient Congenital Muscular Dystrophy 1a
|
|
Cardiomyopathy, Familial Idiopathic
|
|
|
| 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
|
|
|
| Articulation Disorder |
|
Phonological Disorder
|
Articulation Disorders
|
|
Articulation Impairment
|
Speech Sound Disorders
|
|
|
| Physical Disorder |
|
|
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-Onset Diabetes Of The Young Type 3
|
MODY3
|
|
Mody, Type Iii
|
Mody Type 3
|
|
Mody, Type 3
|
Maturity-Onset Diabetes Of The Young 3
|
|
Mody-3
|
Diabetes Of The Young, Maturity-Onset, Type 3
|
|
|
| Maple Syrup Urine Disease |
|
MSUD
|
Bckd Deficiency
|
|
Branched-Chain Ketoaciduria
|
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
|
|
Keto Acid Decarboxylase Deficiency
|
Maple Syrup Urine Disease, Type Ii
|
|
Branched Chain Ketoaciduria
|
Classic Maple Syrup Urine Disease
|
|
Intermittent Maple Syrup Urine Disease
|
Maple Syrup Urine Disease, Type Ia
|
|
Ketoacidaemia
|
Bckdh Deficiency
|
|
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
|
Thiamine-Responsive Maple Syrup Urine Disease
|
|
Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
|
Maple Syrup Urine Disease Type 1b
|
Maple Syrup Urine Disease Type 2
|
|
Maple Syrup Urine Disease, Type Ib
|
Dihydrolipoamide Dehydrogenase Deficiency
|
|
Branched-Chain Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Disease
|
|
Ketoacidemia
|
Classic Bckd Deficiency
|
|
Classic Msud
|
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Classic Branched-Chain Ketoaciduria
|
Thiamine-Responsive Bckd Deficiency
|
|
Thiamine-Responsive Msud
|
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Intermittent Bckd Deficiency
|
Intermittent Msud
|
|
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Urine Disease 1a
|
|
MSUD1A
|
Maple Syrup Urine Disease Type Ia
|
|
Msud Type Ia
|
Maple Syrup Urine Disease 1b
|
|
MSUD1B
|
Maple Syrup Urine Disease Type Ib
|
|
Msud Type Ib
|
Maple Syrup Urine Disease 2
|
|
MSUD2
|
Maple Syrup Urine Disease Type Ii
|
|
Msud Type Ii
|
Nadh Cytochrome B5 Reductase Deficiency
|
|
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
|
Ketonemia
|
|
Maple Syrup Urine Disease, Type 1b
|
Ketoacid Decarboxylase Deficiency
|
|
Oxoacid Decarboxylase Deficiency
|
Branched Chain Ketoacid Dehydrogenase Deficiency
|
|
Msud - [Maple-Syrup-Urine Disease]
|
Ketoaminoacidaemia
|
|
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
|
Maple-Syrup-Urine Disorder
|
|
Maple-Syrup-Urine Syndrome
|
|
|
| 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
|
|
|
| Psychotic Disorder |
|
Psychotic Disorders
|
Mental Or Behavioural Disorder
|
|
Psychotic
|
Mental Disorders
|
|
|
| Primary Autosomal Recessive Microcephaly |
|
Autosomal Recessive Primary Microcephaly
|
Mcph
|
|
True Microcephaly
|
Microcephalia Vera
|
|
Microcephaly Vera
|
Microcephaly Primary Hereditary
|
|
Microcephaly, Primary, Autosomal Recessive
|
Primary Microcephaly
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Chromosomal Duplication Syndrome |
|
|
| Amelogenesis Imperfecta, Type Ig |
|
Enamel-Renal Syndrome
|
Ers
|
|
Amelogenesis Imperfecta Type 1g
|
AI1G
|
|
Enamel-Renal-Gingival Syndrome
|
Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome
|
|
Aigfs
|
Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis
|
|
Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis
|
Amelogenesis Imperfecta Type Ig
|
|
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome
|
Amelogenesis Imperfecta 1g
|
|
Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis
|
Amelogenesis Imperfecta Nephrocalcinosis
|
|
|
| Attention Deficit-Hyperactivity Disorder |
|
Attention Deficit Hyperactivity Disorder
|
ADHD
|
|
Attention Deficit Disorder
|
Attention Deficit-Hyperactivity Disorder, Susceptibility To
|
|
Attention Deficit Disorder With Hyperactivity
|
Hyperkinetic Disorder
|
|
Hyperactivity Of Childhood
|
Attention-Deficit/Hyperactivity Disorder
|
|
Add
|
Addh
|
|
Attention Deficit
|
Attention Deficit Disorder Of Childhood With Hyperactivity
|
|
Attention Deficit Disorder With Hyperactivity Syndrome
|
Hyperkinetic Syndrome
|
|
Attention-Deficit Hyperactivity Disorder
|
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
|
|
Disturbance Of Activity And Attention
|
Disorder Of Activity And Attention
|
|
Adhd - [Attention Deficit Hyperactivity Disorder]
|
Hyperkinetic Disorders
|
|
Disorder Of Activity And Attention With Hyperkinesia
|
Attention Deficit Syndrome With Hyperactivity
|
|
|
| Brachydactyly |
|
|
| Amelogenesis Imperfecta |
|
Ai
|
Congenital Enamel Hypoplasia
|
|
Al - [Amelogenesis Imperfecta]
|
|
|
| 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
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
