Diseases |
Alias |
|
Childhood Meningioma |
|
|
Myelodysplastic/Myeloproliferative Neoplasm |
Myelodysplastic-Myeloproliferative Diseases
|
Myelodysplastic/Myeloproliferative Disease
|
Myelodysplastic Myeloproliferative Cancer
|
Myelodysplastic Myeloproliferative Disease
|
Myeloproliferative/Myelodysplastic Syndromes
|
|
|
Juvenile Pilocytic Astrocytoma |
|
|
Adult Astrocytic Tumour |
Adult Astrocytoma
|
Adult Astrocytic Tumors
|
|
|
Bone Marrow Cancer |
Malignant Neoplasm Of Bone Marrow
|
Bone Marrow Neoplasm
|
Bone Marrow Tumor
|
Malignant Bone Marrow Tumor
|
Myeloproliferative Disorders
|
Bone Marrow Neoplasms
|
Myeloproliferative Disease
|
Chronic Myeloproliferative Disorder
|
|
|
Labyrinthitis |
Labyrinthine Disorder
|
Inner Ear Inflammation
|
Otitis Interna
|
Labyrinth Hyperaemia
|
|
|
Fibrillary Astrocytoma |
Fibrillary Astrocytic Tumors
|
Diffuse Astrocytoma
|
Gemistocytic Astrocytoma
|
Protoplasmic Astrocytoma
|
|
|
Spondylometaphyseal Dysplasia, Sedaghatian Type |
SMDS
|
Sedaghatian Chondrodysplasia
|
Spondylometaphyseal Dysplasia Sedaghatian Type
|
Congenital Lethal Metaphyseal Chondrodysplasia
|
Metaphyseal Chondrodysplasia, Congenital Lethal
|
Lethal Metaphyseal Dysplasia
|
|
|
Pelger-Huet Anomaly |
PHA
|
Pelger-Huët Anomaly
|
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities
|
Pelger Huet Anomaly
|
Pelger-Huet Nuclear Anomaly
|
|
|
Spinal Cord Ependymoma |
Ependymal Neoplasm Of The Spinal Cord
|
Spinal Ependymoma
|
Ependymoma Of Spinal Cord
|
|
|
Burn-Mckeown Syndrome |
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome
|
Oculootofacial Dysplasia
|
BMKS
|
Oofd
|
Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance
|
Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome
|
Choanal Atresia Deafness Cardiac Defects Dysmorphism
|
Oculo-Oto-Facial Dysplasia
|
|
|
Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative |
Atypical Chronic Myeloid Leukemia
|
Atypical Chronic Myeloid Leukaemia
|
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
|
Acml
|
Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative
|
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative
|
Atypical Cml
|
Subacute Myeloid Leukemia
|
Subacute Myelogenous Leukaemia
|
Subacute Myeloid Leukaemia
|
Subacute Myelosis
|
Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission
|
Subacute Monocytic Leukaemia Without Mention Of Remission
|
Subacute Monocytic Leukaemia
|
|
|
Immunodeficiency 21 |
Monocytopenia And Mycobacterial Infection Syndrome
|
Monomac
|
Gata2 Deficiency
|
Monocytopenia With Susceptibility To Infections
|
Dcml
|
IMD21
|
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
|
Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia
|
Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections
|
Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections
|
Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency
|
Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome
|
Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia
|
Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections
|
Monocyte - B - Natural Killer - Dendritic Cell Deficiency
|
Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections
|
Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency
|
Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
|
|
|
Chronic Neutrophilic Leukemia |
Cnl
|
Leukemia Neutrophilic Chronic
|
|
|
Supratentorial Primitive Neuroectodermal Tumor |
Supratentorial Pnet
|
Supratentorial Embryonal Tumor, Not Otherwise Specified
|
Ewings Sarcoma-Primitive Neuroectodermal Tumor
|
|
|
Placental Choriocarcinoma |
Choriocarcinoma Of The Placenta
|
|
|
Shwachman-Diamond Syndrome 1 |
Shwachman-Diamond Syndrome
|
Shwachman Syndrome
|
Shwachman-Bodian-Diamond Syndrome
|
Sds
|
Pancreatic Insufficiency And Bone Marrow Dysfunction
|
Shwachman-Bodian Syndrome
|
SDS1
|
Lipomatosis Of Pancreas, Congenital
|
Congenital Lipomatosis Of Pancreas
|
Shwachman-Diamond Type Metaphyseal Dysplasia
|
Metaphyseal Chondrodysplasia, Shwachman Type
|
Shwachman-Diamond-Oski Syndrome
|
|
|
Atypical Teratoid Rhabdoid Tumor |
Rhabdoid Tumor Predisposition Syndrome
|
Rtps
|
Atypical Teratoid/Rhabdoid Tumor
|
Rhabdoid Predisposition Syndrome
|
Familial Posterior Fossa Brain Tumor Of Infancy
|
Familial Rhabdoid Tumor
|
At/Rt
|
Atypical Teratoid Rhabdoid Tumour
|
Atypical Teratoid/Rhabdoid Tumour
|
Rhabdoid Tumor Of The Cns
|
Rhabdoid Tumour Of The Cns
|
Familial Posterior Fossa Brain Tumor Syndrome
|
Hereditary Swi/Snf Deficiency Syndrome
|
Atrt
|
|
|
Chronic Leukemia |
Adult Chronic Leukemia
|
Cll
|
Cml
|
|
|
Neutrophilia, Hereditary |
Hereditary Neutrophilia
|
NEUTROPHILIA
|
Leukocytosis
|
Disorders With Increased Neutrophil Counts
|
|
|
Mandibulofacial Dysostosis, Guion-Almeida Type |
Mandibulofacial Dysostosis With Microcephaly
|
Mandibulofacial Dysostosis-Microcephaly Syndrome
|
MFDGA
|
MFDM
|
Mfdm Syndrome
|
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate
|
Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate
|
Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome
|
Dysostosis, Mandibulofacial, Guion-Almeida Type
|
|
|
Gliomatosis Cerebri |
Astrocytosis Cerebri
|
Neoplasms, Neuroepithelial
|
|
|
Childhood Astrocytic Tumor |
Juvenile Astrocytoma
|
Pediatric Astrocytoma
|
|
|
Patau Syndrome |
Trisomy 13
|
Complete Trisomy 13 Syndrome
|
Trisomy 13 Syndrome
|
D1 Trisomy
|
Patau'S Syndrome
|
Complete Trisomy 13
|
Chromosome 13, Trisomy 13 Complete
|
D Trisomy Syndrome
|
Bartholin-Patau Syndrome
|
Chromosome 13 Duplication
|
D1 Trisomy Syndrome
|
D>1< Trisomy Syndrome
|
Patau
|
Chromosome 13 Trisomy
|
Abnormal Autosomes 13
|
|
|
Retinitis Pigmentosa 11 |
RP11
|
Retinitis Pigmentosa-11
|
Retinitis Pigmentosa, Type 11
|
|
|
Spinal Cord Glioma |
Glial Tumor Of Spinal Cord
|
Glial Neoplasm Spinal Cord
|
Glioma Of Spinal Cord
|
|
|
Peritoneal Mesothelioma |
Malignant Mesothelioma Of Peritoneum
|
Advanced Malignant Mesothelioma Of Peritoneum
|
Advanced Malignant Peritoneal Mesothelioma
|
Advanced Peritoneal Malignant Mesothelioma
|
|
|
Amegakaryocytic Thrombocytopenia, Congenital |
Congenital Amegakaryocytic Thrombocytopenia
|
CAMT
|
Thrombocytopenia, Congenital Amegakaryocytic
|
Congenital Amegakaryocytic Thrombocytopenic Purpura
|
Thrombocytopenia Congenital Amegakaryocytic
|
Thrombocytopenia, Amegakaryocytic, Congenital
|
|
|
Myxopapillary Ependymoma |
|
|
Chronic Myelomonocytic Leukemia |
Leukemia, Myelomonocytic, Chronic
|
Cmml
|
Leukemia Myelomonocytic Chronic
|
Cmml - [Chronic Myelomonocytic Leukaemia]
|
Chronic Myelomonocytic Leukaemia Without Mention Of Remission
|
Chronic Monocytic Leukaemia
|
Chronic Monocytoid Leukaemia
|
|
|
Pilomyxoid Astrocytoma |
|
|
Hereditary Lymphedema |
|
|
Juvenile Myelomonocytic Leukemia |
Leukemia, Juvenile Myelomonocytic
|
JMML
|
Leukemia, Juvenile Myelomonocytic, Somatic
|
Juvenile Chronic Myelomonocytic Leukemia
|
Juvenile Chronic Myelogenous Leukemia
|
Leukemia, Myelomonocytic, Juvenile
|
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
|
|
|
Erythrocytosis, Familial, 2 |
Chuvash Polycythemia
|
ECYT2
|
Familial Erythrocytosis 2
|
Autosomal Recessive Benign Erythrocytosis
|
Polycythemia, Vhl-Dependent
|
Chuvash Erythromatosis
|
Chuvash Type Polycythemia
|
Chuvash Erythrocytosis
|
Von Hippel-Lindau-Dependent Polycythemia
|
Polycythemia Chuvash Type
|
Vhl-Dependent Polycythemia
|
Erythrocytosis, Familial, Type 2
|
|
|
Severe Congenital Neutropenia |
Congenital Neutropenia
|
Neutropenia, Severe Congenital
|
Congenital Agranulocytosis
|
Infantile Genetic Agranulocytosis
|
Kostmann Disease
|
Kostmann'S Agranulocytosis
|
Kostmann'S Syndrome
|
Severe Infantile Genetic Neutropenia
|
|
|
Rasopathy |
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|
Blood Platelet Disease |
Platelet Disorder
|
Blood Platelet Disorders
|
Thrombocytopathy
|
Platelet Dysfunction
|
Platelet Disorders
|
Qualitative Platelet Deficiency
|
|
|
Peritoneum Cancer |
Peritoneal Neoplasm
|
Cancer Of Peritoneum
|
Malignant Tumor Of Peritoneum
|
Peritoneal Neoplasms
|
|
|
Myeloproliferative Neoplasm |
Myeloproliferative Disorder
|
Chronic Myeloproliferative Disease
|
Myeloproliferative Neoplasms
|
Chronic Myeloproliferative Disorder
|
Cmpd
|
Cmpd, U
|
Chronic Myeloproliferative Disorders
|
Mpd
|
Mpn
|
Myeloproliferative Disorders
|
Myeloproliferative Disease
|
Campomelic Dysplasia
|
|
|
Blood Coagulation Disease |
Blood Coagulation Disorders
|
Coagulation Protein Disease
|
Inherited Blood Coagulation Disease
|
Postpartum Coagulation Defect
|
Postpartum Coagulation Defect With Delivery
|
Coagulation Protein Disorders
|
Puerperal Coagulopathy
|
|
|
Li-Fraumeni Syndrome |
Sarcoma Family Syndrome Of Li And Fraumeni
|
Sbla Syndrome
|
LFS
|
Li-Fraumeni Familiar Cancer Susceptibility Syndrome
|
Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome
|
Lfs1
|
Li Fraumeni Syndrome
|
Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome
|
Lfl
|
Sbla Syndrome Li-Fraumeni-Like Syndrome
|
Li-Fraumeni Syndrome 1
|
|
|
Diamond-Blackfan Anemia |
Congenital Pure Red Cell Aplasia
|
Aase Syndrome
|
Erythrogenesis Imperfecta
|
Anemia, Diamond-Blackfan
|
Congenital Hypoplastic Anemia
|
Aase-Smith Ii Syndrome
|
Bds
|
Blackfan-Diamond Anemia
|
Congenital Prca
|
Congenital Hypoplastic Anemia, Blackfan-Diamond Type
|
Dba
|
Blackfan - Diamond Syndrome
|
Chronic Constitutional Pure Red Cell Anaemia
|
Anemia Diamond Blackfan Type
|
Anemia Congenital Erythroid Hypoplastic
|
Aregenerative Anemia Chronic Congenital
|
Blackfan Diamond Syndrome
|
Red Cell Aplasia, Pure Hereditary
|
Aase-Smith Syndrome Ii
|
Bda
|
Blackfan Diamond Anemia
|
Blackfan-Diamond Disease
|
Blackfan-Diamond Syndrome
|
Chronic Congenital Agenerative Anemia
|
Congenital Erythroid Hypoplastic Anemia
|
Congenital Hypoplastic Anemia Of Blackfan And Diamond
|
Congenital Pure Red Cell Anemia
|
Hypoplastic Congenital Anemia
|
Inherited Erythroblastopenia
|
Pure Hereditary Red Cell Aplasia
|
Anemia, Hypoplastic, Congenital
|
Anemia Hypoplastic Congenital
|
Fanconi Anemia
|
Constitutional Aplastic Anemia
|
Diamond-Blackfan Anemia 1
|
Aase Smith Syndrome 2
|
Congenital Red Cell Aplasia
|
Red Cell Aplasia Of Infants
|
Pure Red Cell Aplasia Of Infants
|
Congenital Red Cell Aplastic Anaemia
|
Congenital Pure Red Cell Anaemia
|
Congenital Erythroid Hypoplasia
|
Pearson Marrow-Pancreas Syndrome
|
|
|
Myelodysplastic Syndrome |
Myelodysplastic Syndromes
|
Myelodysplasia
|
MDS
|
Myelodysplastic Syndrome Included
|
Myelodysplastic Syndrome, Susceptibility To, Included
|
Myelodysplastic Syndrome, Somatic
|
Myelodysplastic Syndrome, Susceptibility To
|
|
|
Dyskeratosis Congenita |
Dyskeratosis Congenita Autosomal Dominant
|
Dc
|
Dkc
|
Zinsser-Engman-Cole Syndrome
|
Dyskeratosis Congenita, Autosomal Dominant
|
Autosomal Dominant Dyskeratosis Congenita
|
Dkca
|
Dyskeratosis Congenita Scoggins Type
|
Zinsser-Cole-Engman Syndrome
|
X-Linked Dyskeratosis Congenita
|
Hoyeraal-Hreidarsson Syndrome
|
|
|
Refsum Disease, Classic |
Refsum Disease
|
Heredopathia Atactica Polyneuritiformis
|
Phytanic Acid Oxidase Deficiency
|
Hmsn Iv
|
Refsum Disease, Adult, 1
|
Refsum'S Disease
|
Phytanic Acid Storage Disease
|
Hereditary Motor And Sensory Neuropathy Iv
|
Hmsn4
|
Hmsn Type Iv
|
Hmsn 4
|
Adult Refsum Disease
|
Classic Refsum Disease
|
Hereditary Motor And Sensory Neuropathy Type Iv
|
Refsum Syndrome
|
Hsmn Iv
|
Disorder Of Cornification 11
|
Doc 11
|
Hereditary Sensory And Motor Neuropathy Type 4
|
Hypertrophic Neuropathy Of Refsum
|
Ard
|
Crd
|
Hereditary Motor And Sensory Neuropathy Type 4
|
Phytanic-Coa Hydroxylase Deficiency
|
RD
|
|
|
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
|
|
|
Hematologic Cancer |
Hematologic Neoplasm
|
Hematologic Neoplasms
|
Hematologic Malignancies
|
Blood Cancer
|
Hematologic Malignancy
|
Hematological Tumors
|
Hematopoietic And Lymphoid System Tumor
|
Hematopoietic Cancer
|
Hematopoietic Neoplasm
|
Hematopoietic Tumors
|
Malignant Hematopoietic Neoplasm
|
Liquid Tumor
|
Hematopoietic Neoplasms
|
|
|
Essential Thrombocythemia |
Essential Thrombocytosis
|
Familial Thrombocytosis
|
Hemorrhagic Thrombocythemia
|
Hereditary Thrombocythemia
|
Primary Thrombocytosis
|
Idiopathic Thrombocythemia
|
Primary Thrombocythemia
|
Thrombocythemia, Essential
|
Essential Thrombocythaemia
|
Et
|
Familial Thrombocythemia
|
Thrombocythemia Essential
|
|
|
Aplastic Anemia |
Aplastic Anemia, Susceptibility To
|
Anemia Aplastic
|
Idiopathic Aplastic Anemia
|
Secondary Aplastic Anemia
|
Idiopathic Bone Marrow Failure
|
Aplastic Anemia Idiopathic
|
AA
|
Anemia, Aplastic
|
Aplastic Anemia, Idiopathic
|
Erythroid Aplasia
|
Aa - [Aplastic Anaemia]
|
Haematopoietic Aplasia
|
Aleukia Haemorrhagica
|
Anaemia Due To Decreased Red Cell Production
|
Aplasia Bone Marrow
|
Aplastic Bone Marrow
|
Hypoplastic Anaemia Nos
|
Myeloid Bone Marrow Aplasia
|
Pancytopenia
|
Panhaematopenia
|
Hypoproliferative Anaemia
|
Medullary Hypoplasia
|
Red Blood Cells Hypoplastic Anaemia
|
Panmyelophthisis
|
Panhemocytopenia
|
Refractive Hypoproliferative Anaemia
|
Toxic Anaemia
|
Toxic Aplastic Anaemia
|
Aplastic Anaemia Due To Toxic Cause
|
Idiopathic Aplastic Anaemia Nos
|
|
|
Physical Disorder |
|
|
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
|
|
|
Deficiency Anemia |
Anemia
|
Deficiency Anemias
|
Anaemia
|
|
|
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
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
|
Leukemia, Chronic Lymphocytic |
Chronic Lymphocytic Leukemia
|
B-Cell Chronic Lymphocytic Leukemia
|
CLL
|
B-Cell Chronic Lymphoid Leukemia
|
Chronic Lymphatic Leukemia
|
Chronic Lymphocytic Leukaemia
|
Lymphoplasmacytic Leukemia
|
Small Lymphocytic Lymphoma
|
Leukemia, Chronic Lymphatic
|
B-Cell Chronic Lymphocytic Leukaemia
|
Chronic Lymphatic Leukaemia
|
Lymphoplasmacytic Leukaemia
|
B Cell Chronic Lymphocytic Leukemia
|
Chronic B-Cell Lymphocytic Leukemia
|
Leukemia, Lymphocytic, Chronic
|
B-Cll
|
Chronic Lymphoid Leukemia
|
Leukemia Lymphocytic Chronic
|
Lymphoma Small Lymphocytic
|
Leukemia, Lymphocytic, Chronic, B-Cell
|
|
|
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
|
|
|
Nervous System Disease |
Abnormality Of The Nervous System
|
Nervous System Diseases
|
Nervous System Disorder
|
|
|