| Diseases |
Alias |
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related
|
MRXSCJ
|
|
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
|
Mrxsj
|
|
Intellectual Developmental Disorder, X-Linked Syndromic, Claes-Jensen Type
|
Kdm5c-Related Syndromic X-Linked Intellectual Disability
|
|
Kdm5c-Related X-Linked Syndromic Intellectual Disability
|
|
|
| Syndromic X-Linked Intellectual Disability Claes-Jensen Type |
|
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
|
Mrxscj
|
|
Mrxsj
|
Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation
|
|
Syndromic X-Linked Mental Retardation Jarid1c-Related
|
|
|
| Plasma Cell Neoplasm |
|
Plasma Cell Dyscrasia
|
Paraproteinemias
|
|
Plasma Cell Tumour
|
Plasmacytic Tumor
|
|
Multiple Myeloma
|
Plasmacytoma
|
|
Plasma Cell Tumours
|
Plasma Cells Dyscrasia
|
|
|
| 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]
|
|
|
| Partington Syndrome |
|
X-Linked Reticulate Pigmentary Disorder
|
PRTS
|
|
Partington X-Linked Mental Retardation Syndrome
|
Mrxs1
|
|
Mrx36
|
Intellectual Developmental Disorder, X-Linked, Syndromic 1
|
|
Partington Disease
|
Pdr
|
|
Partington-Mulley Syndrome
|
Russell-Silver Syndrome, X-Linked
|
|
Mental Retardation, X-Linked, Syndromic 1
|
Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
|
Mental Retardation, X-Linked 36
|
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
|
|
X-Linked Russell-Silver Syndrome
|
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
|
|
Intellectual Disability, X-Linked, Syndromic 1
|
Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
|
Partington X-Linked Intellectual Disability Syndrome
|
X-Linked Intellectual Deficit-Dystonia-Dysarthria
|
|
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
|
Familial Cutaneous Amyloidosis
|
|
X-Linked Cutaneous Amyloidosis
|
Xlpdr
|
|
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
|
Pigmentary Disorder, Reticulate, With Systemic Manifestations
|
|
|
| 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
|
|
|
| Syndromic X-Linked Intellectual Disability Siderius Type |
|
Mrxssd
|
Siderius-Hamel Syndrome
|
|
Siderius X-Linked Mental Retardation Syndrome
|
|
|
| Mohr-Tranebjaerg Syndrome |
|
Deafness-Dystonia-Optic Neuronopathy Syndrome
|
Jensen Syndrome
|
|
Deafness Dystonia Syndrome
|
MTS
|
|
Dds
|
Deafness-Dystonia-Optic Atrophy Syndrome
|
|
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency
|
Opticoacoustic Nerve Atrophy With Dementia
|
|
Dystonia-Deafness Syndrome
|
Ddp
|
|
Ddon Syndrome
|
Mohr-Tranebjærg Syndrome
|
|
Deafness Dystonia Optic Atrophy Syndrome
|
Deafness Dystonia Optic Neuronopathy Syndrome
|
|
Dystonia Deafness Syndrome
|
Ddon
|
|
Deafness - Dystonia - Optic Neuronopathy Syndrome
|
Deafness-Dystonia-Optic Neuronopathy Syndrome
|
|
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome
|
Dfn-1
|
|
X-Linked Progressive Deafness 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
|
|
|
| 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
|
|
|
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Mrxs13
|
Lindsay-Burn Syndrome
|
|
Ppm-X
|
Ppm-X Syndrome
|
|
Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism
|
Mental Retardation, X-Linked, Syndromic 13
|
|
X-Linked Mental Retardation 79
|
X-Linked Mental Retardation With Spasticity
|
|
Intellectual Deficit, X-Linked - Psychosis - Macroorchidism
|
Intellectual Disability Psychosis Macroorchidism
|
|
Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism
|
Intellectual Disability, X-Linked, Syndromic 13
|
|
Ppmx
|
X-Linked Mental Retardation, Syndromic 13
|
|
|
| Borjeson-Forssman-Lehmann Syndrome |
|
BFLS
|
Borj
|
|
Borjeson Syndrome
|
Mrxsbfl
|
|
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome
|
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
|
|
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type
|
Mental Retardation, Epilepsy, And Endocrine Disorders
|
|
Mental Retardation, Epilepsy, And Endocrine Disorder
|
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
|
|
Mental Deficiency, Epilepsy And Endocrine Disorders
|
Boerjeson-Forssman-Lehmann Syndrome
|
|
Borjeson-Forssman Syndrome
|
Mental Deficiency-Epilepsy- Endocrine Disorders
|
|
|
| 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
|
|
|
| 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
|
|
|
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Proud Syndrome
|
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
|
|
Acc With Abnormal Genitalia
|
Proud-Levine-Carpenter Syndrome
|
|
Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
|
Corpus Callosum Agenesis With Abnormal Genitalia
|
|
New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum
|
Proud Levine Carpenter Syndrome
|
|
Acc-Abnormal Genitalia Syndrome
|
Agenesis Of The Corpus Callosum, With Abnormal Genitalia
|
|
ACCAG
|
Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia
|
|
Congenital Neurologic Anomalies
|
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
Renal Cell Carcinoma
|
RCC
|
|
Nonpapillary Renal Cell Carcinoma
|
Clear Cell Renal Cell Carcinoma
|
|
Hypernephroma
|
Adenocarcinoma Of Kidney
|
|
Renal Carcinoma, Chromophobe, Somatic
|
Clear Cell Carcinoma Of Kidney
|
|
Clear-Cell Metastatic Renal Cell Carcinoma
|
Clear Cell Renal Carcinoma
|
|
Renal Cell Carcinoma, Somatic
|
Conventional Renal Cell Carcinoma
|
|
Conventional Renal Cell Carcinoma
|
Renal Clear Cell Carcinoma
|
|
Ccrcc
|
Hereditary Clear Cell Renal Cell Carcinoma
|
|
Carcinoma, Renal Cell
|
Renal Cell Carcinoma, Clear Cell, Somatic
|
|
Renal Cell Carcinoma, Clear Cell
|
Clear Cell Kidney Carcinoma
|
|
Clear Cell Rcc
|
Cystic-Multilocular Variant
|
|
Clear Cell Renal Cell Adenocarcinoma
|
Hereditary Clear Cell Renal Cell Adenocarcinoma
|
|
Common Renal Cell Carcinoma
|
Crcc
|
|
Renal Cell Carcinoma Non-Papillary
|
Carcinoma Renal Cell
|
|
Renal Cell Cancer
|
Carcinoma, Renal Cell, Nonpapillary
|
|
|
| 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
|
|
|
| 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
|
|
|
| Syndromic X-Linked Intellectual Disability |
|
X-Linked Syndromic Intellectual Disability
|
|
|
| Developmental And Epileptic Encephalopathy 1 |
|
Epileptic Encephalopathy, Early Infantile, 1
|
Infantile Epileptic-Dyskinetic Encephalopathy
|
|
DEE1
|
Eiee1
|
|
Issx1
|
Xmesid
|
|
X-Linked Infantile Spasm Syndrome 1
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
|
Developmental And Epileptic Encephalopathy, 1
|
|
Infantile Epileptic Dyskinetic Encephalopathy
|
Infantile Spasm Syndrome, X-Linked 1
|
|
West Syndrome, X-Linked
|
Ohtahara Syndrome, X-Linked
|
|
Early Infantile Epileptic Encephalopathy 1
|
Early Infantile Epileptic Encephalopathy-1
|
|
Issx
|
X-Linked Ohtahara Syndrome
|
|
X-Linked West Syndrome
|
Infantile Spasm Syndrome X-Linked 1
|
|
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity
|
Ohtahara Syndrome X-Linked
|
|
West Syndrome X-Linked
|
Encephalopathy, Epileptic, Early Infantile, Type 1
|
|
|
| Syndromic Intellectual Disability |
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| 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
|
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
Papillary Renal Cell Carcinoma
|
Hereditary Papillary Renal Cell Carcinoma
|
|
Papillary Renal Cell Carcinoma, Sporadic
|
Papillary Renal Cell Adenocarcinoma
|
|
RCCP
|
RCCP1
|
|
Renal Cell Carcinoma, Papillary
|
Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
|
|
Chromophil Carcinoma Of Kidney
|
Papillary Kidney Carcinoma
|
|
Sporadic Papillary Renal Cell Carcinoma
|
Chromophil Renal Cell Carcinoma
|
|
Papillary Renal Carcinoma, Malignant -
|
Papillary Renal Cell Carcinoma, Bilateral -
|
|
Papillary Renal Cell Carcinoma, Familial -
|
Papillary Renal Cell Carcinoma, Multiple -
|
|
Papillary Renal Cell Carcinoma, Sporadic -
|
Renal Adenocarcinoma
|
|
Chromophil Rcc
|
Hprcc
|
|
Renal Cell Carcinoma Papillary
|
Chromophilic Renal Cell Carcinoma
|
|
Prcc
|
Carcinoma, Renal Cell, Papillary, Type 1
|
|
Type 1 Papillary Renal Cell Carcinoma
|
Renal Cell Carcinoma
|
|
Hereditary Papillary Renal Carcinoma
|
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
|
X-Linked Non-Specific Intellectual Disability
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Chromophobe Renal Cell Carcinoma |
|
Chromophobe Adenocarcinoma
|
Chromophobe Carcinoma Of Kidney
|
|
Kidney Chromophobe
|
Renal Cell Carcinoma, Chromophobe Cell
|
|
Crcc
|
Chrcc
|
|
Chromophobe Renal Cell Adenocarcinoma
|
Chromophobe Renal Carcinoma
|
|
Chromophobe Carcinoma
|
|
|
