疾病名称 |
别名 |
|
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
FPHH
|
Melanosis Universalis Hereditaria
|
Muh
|
Familial Progressive Hyperpigmentation With Or Without Hypopigmentation
|
Hyperpigmentation, Familial Progressive, 2, Formerly
|
Fph2, Formerly
|
Hyperpigmentation With Or Without Hypopigmentation
|
Familial Progressive Hyper- And Hypopigmentation
|
Hyperpigmentation, Familial Progressive
|
|
|
Waardenburg Syndrome, Type 2f |
|
|
Deafness, Autosomal Dominant 69 |
DCUA
|
DFNA69
|
Deafness, Congenital, Unilateral Or Asymmetric
|
Deafness, Autosomal Dominant 69, Unilateral Or Asymmetric
|
Autosomal Dominant Nonsyndromic Deafness 69
|
Autosomal Dominant Deafness 69
|
Unilateral Or Asymmetric Congenital Deafness
|
|
|
Skin/Hair/Eye Pigmentation, Variation In, 7 |
Skin/Hair/Eye Pigmentation 7, Dark/Light Skin
|
SHEP7
|
Skin/Hair/Eye Pigmentation 7, Blond/Brown Hair
|
|
|
Macules Hereditary Congenital Hypopigmented And Hyperpigmented |
Congenital Hypomelanotic And Hypermelanotic Macules
|
Hereditary Congenital Hypopigmented And Hyperpigmented Macules
|
Westerhof Beemer Cormane Syndrome
|
|
|
Familial Progressive Hyperpigmentation |
Melanosis Diffusa Congenita
|
Melanosis Universalis Hereditaria
|
Universal Melanosis
|
Hyperpigmentation, Progressive, Familial
|
Hyperpigmentation, Familial Progressive
|
Melanosis, Universal
|
|
|
Waardenburg Syndrome, Type 2e |
Waardenburg Syndrome Type 2
|
Waardenburg Syndrome Type 2e
|
WS2E
|
Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement
|
Waardenburg Syndrome, Type Iie
|
Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation
|
Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement
|
Waardenburg Syndrome Type Iie
|
Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation
|
Ws2e, With Or Without Neurologic Involvement
|
Ws2e With Or Without Neurological Involvement
|
Ws 2
|
Ws Type 2
|
Ws2
|
Waardenburg Syndrome Type Ii
|
Waardenburg Syndrome 2e
|
Kallmann Syndrome And Deafness With Or Without Hypopigmentation
|
Ws2e With Or Without Neurologic Involvement
|
Waardenburg Syndrome Type 2e, Without Neurologic Involvement
|
Ws-2
|
|
|
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna
|
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
|
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna
|
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
|
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna
|
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
|
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
|
|
|
Mastocytosis |
Mast Cell Disease
|
Mast Cell Hyperplasia
|
Urticaria Pigmentosa
|
Malignant Mastocytoma
|
Malignant Mast Cell Tumours
|
Malignant Mastocytosis
|
|
|
Mastocytosis, Cutaneous |
Urticaria Pigmentosa
|
Cutaneous Mastocytosis
|
Diffuse Cutaneous Mastocytosis
|
Maculopapular Cutaneous Mastocytosis
|
Mastocytosis, Diffuse Cutaneous
|
MASTC
|
Mastocytosis, Maculopapular Cutaneous
|
Mastocytosis, Systemic, Somatic
|
Mastocytoma
|
Dcm
|
Diffuse Cutaneous Maculopapulous Mastocytosis
|
Up/Mpcm
|
Cm
|
Mastocytosis, Systemic
|
MASTSYS
|
Mast Cell Disease
|
Mast-Cell Disease
|
Mast Cell Leukemia
|
Mastocytosis, Indolent
|
Mastocytosis With Associated Hematologic Disorder
|
Mast Cell Neoplasm
|
Benign Mastocytoma
|
|
|
Mast-Cell Leukemia |
Mast Cell Leukemia
|
Leukemia, Mast-Cell
|
Leukemia Mast Cell
|
Mast Cell Leukaemia Nos
|
Mast Cell Leukaemia Without Mention Of Remission
|
|
|
Systemic Mastocytosis |
Systemic Mast Cell Disease
|
Systemic Tissue Mast Cell Disease
|
Mastocytosis, Systemic
|
Smcd - Systemic Mast Cell Disease
|
Smcd
|
Mast Cell Disease, Systemic
|
Systemic Mast-Cell Disease
|
Systemic Mastocytoses
|
Mastocytosis Systemic
|
Corneal Dystrophy, Subepithelial Mucinous
|
Smcd - [Systemic Mast Cell Disease]
|
|
|
Mast Cell Neoplasm |
Mastocytoma
|
Mast Cell Proliferative Disease
|
Mast Cell Tumor
|
Benign Mastocytoma
|
|
|
Testicular Germ Cell Tumor |
Male Germ Cell Tumor
|
Testicular Teratoma
|
TGCT
|
Mgct
|
Male Germ Cell Tumor, Somatic
|
Spermatocytic Seminoma, Somatic
|
Embryonal Cell Carcinoma
|
Seminoma
|
Spermatocytic Seminoma
|
Germ Cell Tumors, Somatic
|
Testicular Tumor, Somatic
|
Non-Seminomatous Germ Cell Tumor Of Testis
|
Non-Dysgerminomatous Germ Cell Tumor Of Testis
|
Testicular Non Seminomatous Germ Cell Tumor
|
Testicular Non-Dysgerminomatous Germ Cell Tumor
|
Teratoma Of The Testis
|
Endodermal Sinus Tumor
|
Nonseminomatous Germ Cell Tumors
|
Teratoma Testicular
|
Germ Cell Tumor, Somatic
|
Embryonal Carcinoma Cell
|
Yolk Sac Tumor
|
Malignant Testicular Non-Seminomatous Germ Cell Tumor
|
Testicular Non-Seminomatous Germ Cell Tumor
|
Teratoma Of Testis
|
Nonseminomatous Germ Cell Tumor
|
|
|
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
|
|
|
Piebald Trait |
Piebaldism
|
PBT
|
Partial Albinism
|
Albinoidism, Oculocutaneous, Autosomal Dominant
|
|
|
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
|
|
|
Polycythemia Vera |
PV
|
Polycythemia Rubra Vera
|
Prv
|
Osler-Vaquez Disease
|
Chronic Erythremia
|
Polycythaemia Rubra Vera
|
Primary Polycythemia
|
Vaquez Disease
|
Polycythemia Vera, Somatic
|
Osler-Vaquez Syndrome
|
Proliferative Polycythaemia
|
Polycythemia Ruba Vera
|
Acquired Primary Erythrocytosis
|
Heilmeyer-Schoner Disease
|
Vaquez Osler Disease
|
Primary Polycythaemia
|
|
|
Myoma |
Muscle Benign Neoplasm
|
Myomatous Neoplasm
|
Neoplasms, Muscle Tissue
|
Benign Neoplasm Of The Muscle
|
Muscle Neoplasm
|
Muscle Tissue Neoplasm
|
Myomatous Tumor
|
Neoplasm Of Muscle
|
Muscle Neoplasms
|
Myomas
|
|
|
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
|
|
|
Thrombocytosis |
|
|
Cyclic Neutropenia |
Cyclic Hematopoiesis
|
Cyclical Neutropenia
|
Neutropenia Cyclic
|
Cyclic Hematopoesis
|
Neutropenia, Cyclic
|
Cyclic Agranulocytosis
|
Neutropenia, Periodic
|
Cyclic Leucopenia
|
Periodic Neutropenia
|
Cyclic Haematopoiesis
|
CH
|
Hematopoiesis, Cyclic
|
Neutropenia, Cyclical
|
|
|
Erythroleukemia |
|
|
Polycythemia |
Erythrocythemia
|
Polycythemia Vera
|
Polycythaemia Due To High Altitude
|
|
|
Solitary Mastocytoma Of The Skin |
Cutaneous Solitary Mastocytoma
|
Skin Mastocytoma
|
Solitary Mastocytoma
|
Solitary Mastocytoma Of Skin
|
Mastocytoma, Skin
|
|
|
Neutropenia |
|
|
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
Vitiligo
|
VAMAS1
|
Slev1
|
Vtlg
|
Systemic Lupus Erythematosus, Vitiligo-Related
|
Vitiligo-Associated Multiple Autoimmune Disease 1
|
Systemic Lupus Erythematosus Vitiligo-Related
|
|
|
Severe Combined Immunodeficiency |
Scid
|
Severe Combined Immunodeficiency Disease
|
Combined T And B Cell Inborn Immunodeficiency
|
Immunodeficiency, Severe Combined
|
Scid - [Severe Combined Immunodeficiencies]
|
|
|
Gastrointestinal Stromal Tumor |
GIST
|
Gastrointestinal Stromal Tumors
|
Gastrointestinal Stromal Sarcoma
|
Gastrointestinal Stromal Tumor, Familial
|
Gant
|
Gastrointestinal Stromal Tumour
|
Stromal Tumor Of Gastrointestinal Tract
|
Stromal Tumour Of Gastrointestinal Tract
|
Gastrointestinal Stromal Neoplasm
|
Paraganglioma And Gastric Stromal Sarcoma
|
Plexosarcoma
|
|
|
Indolent Systemic Mastocytosis |
|
|
Merkel Cell Carcinoma |
Trabecular Adenocarcinoma
|
Cutaneous Neuroendocrine Carcinoma
|
Trabecular Carcinoma
|
Carcinoma, Merkel Cell
|
Merkel Cell Cancer
|
Merkle Tumors
|
Mcc
|
Carcinoma Merkel Cell
|
|
|
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
|
|
|
Spermatogenic Failure, Y-Linked, 1 |
SPGFY1
|
Sertoli Cell-Only Syndrome, Y-Linked
|
Y-Linked Spermatogenic Failure 1
|
Sertoli Cell-Only Syndrome, Type I
|
Type I Sertoli Cell-Only Syndrome
|
Y-Linked Sertoli Cell-Only Syndrome
|
|
|
Transient Erythroblastopenia Of Childhood |
Erythroblastopenia, Transient
|
Transient Acquired Pure Red Cell Aplasia
|
TEC
|
Familial Transient Erythroblastopenia Of Childhood
|
|
|
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
|
|
|
Myelodysplastic Syndrome |
Myelodysplastic Syndromes
|
Myelodysplasia
|
MDS
|
Myelodysplastic Syndrome Included
|
Myelodysplastic Syndrome, Susceptibility To, Included
|
Myelodysplastic Syndrome, Somatic
|
Myelodysplastic Syndrome, Susceptibility To
|
|
|
Oligospermia |
|
|
Dowling-Degos Disease 1 |
Reticular Pigment Anomaly Of Flexures
|
DDD1
|
Ddd
|
Hyperpigmentation
|
Dowling-Degos Disease
|
|
|
Leukemia, Chronic Myeloid |
Chronic Myeloid Leukemia
|
Chronic Myelogenous Leukemia
|
CML
|
Chronic Granulocytic Leukemia
|
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib
|
Chronic Myeloid Leukaemia
|
Chronic Granulocytic Leukaemia
|
Chronic Myelogenous Leukaemia
|
Myeloid Leukemia, Chronic
|
Leukemia, Chronic Myelogenous
|
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic
|
Cml - Chronic Myelogenous Leukemia
|
Cgl
|
Chronic Myelocytic Leukemia
|
Leukemia, Chronic Myeloid, Atypical
|
ACML
|
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative
|
Myeloid Leukemia Chronic
|
Leukemia, Myeloid, Chronic
|
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
|
Cml- [Chronic Myeloid Leukaemia]
|
Cgl - [Chronic Granulocytic Leukaemia]
|
Chronic Myelocytic Leukaemia
|
|
|
Acute Leukemia |
Stem Cell Leukaemia
|
Stem Cell Leukemia
|
Acute Leukemias
|
Acute Undifferentiated Leukemia
|
Undifferentiated Leukemia
|
Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission
|
Blast Cell Leukaemia
|
Blast Leukaemia
|
Blastic Leukaemia
|
Undifferentiated Leukaemia
|
|
|
Severe Combined Immunodeficiency, X-Linked |
X-Linked Severe Combined Immunodeficiency
|
SCIDX1
|
XSCID
|
Scidx
|
X-Linked Scid
|
X-Scid
|
Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
|
Scid, X-Linked
|
Immunodeficiency 4
|
Imd4
|
Gamma Chain Deficiency
|
Scid-X1
|
X-Linked Combined Immunodeficiency Diseases
|
Thymic Epithelial Hypoplasia
|
Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency
|
Severe Combined Immunodeficiency T- B+, X-Linked
|
Il2rg Scid, T- B+ Nk-
|
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
|
T-B+ Scid Due To Gamma Chain Deficiency
|
T-B+ Severe Combined Immunodeficiency, X-Linked
|
Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative
|
Agammaglobulinemia Swiss Type
|
Scid X-Linked
|
Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative
|
Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative
|
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
|
|
|
Eyelid Benign Neoplasm |
Tumor Of The Eyelid
|
Eyelid Neoplasms
|
Eyelid Neoplasm
|
|
|
Alexia |
Dyslexia
|
Dyslexia, Acquired
|
Acquired Dyslexia
|
Aphemesthaesia
|
|
|
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
|
|
|
Allergic Disease |
Hypersensitivity
|
Allergic Hypersensitivity Disease
|
Allergic Condition
|
Allergic Reaction
|
Allergic Disposition
|
|
|
Extracutaneous Mastocytoma |
Mastocytoma
|
Mast Cell Neoplasm
|
Benign Mastocytoma
|
|
|
Dysgerminoma |
|
|
Thrombocytopenia |
Low Platelet Count
|
Low Platelets
|
Decreased Platelets
|
Platelet Dysfunction Nos
|
|
|
Combined Immunodeficiency |
Combined T Cell And B Cell Immunodeficiency
|
Congenital Combined Immunodeficiency
|
Syndrome With Combined Immunodeficiency
|
Combined T And B Cell Immunodeficiency
|
Combined Immunity Deficiency
|
Combined Immunodeficiency Syndrome
|
Combined T-Cell And B-Cell Immunodeficiency
|
Lymphopenic Agammaglobulinaemia
|
|
|
Mast-Cell Sarcoma |
|
|
Macrocytic Anemia |
Anemia Macrocytic
|
Anemia, Macrocytic
|
Macrocytic Anaemia
|
|
|
Dysgerminoma Of Ovary |
Ovarian Dysgerminoma
|
Malignant Dysgerminomatous Germ Cell Tumour Of Ovary
|
Dysgerminoma, Unspecified Site, Female
|
|
|
Calcinosis |
Pathologic Calcification
|
Pathologically Calcified Structure
|
|
|
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
|
|
|
Male Infertility |
Infertility, Male
|
Infertility Male
|
Male Sterility
|
Absolute Infertility
|
|
|
Sm-Ahnmd |
Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease
|
Systemic Mastocytosis With Associated Clonal Haematological Non-Mast Cell Lineage Disease
|
Systemic Mastocytosis With Associated Clonal Hematological Non-Mast-Cell Lineage Disease
|
|
|
Aggressive Systemic Mastocytosis |
Asm
|
Lymphadenopathic Mastocytosis With Eosinophilia
|
|
|
B-Lymphoblastic Leukemia/Lymphoma |
B Lymphoblastic Leukemia/Lymphoma
|
B-All
|
Precursor B Lymphoblastic Lymphoma/Leukemia
|
C-All
|
Lymphoblastic Lymphoma, Nos
|
Common Precursor B All
|
Lymphoblastic B-Cell Lymphoma
|
Pro-B All
|
B-Precursor Lymphoma
|
Lbl - [Lymphoblastic Lymphoma]
|
|
|
Myoepithelioma |
Benign Myoepithelioma
|
Myoepithelial Adenoma
|
Myoepithelial Neoplasm
|
Malignant Myoepithelioma
|
|
|
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
|
|
|
Deficiency Anemia |
Anemia
|
Deficiency Anemias
|
Anaemia
|
|
|
Tietz Albinism-Deafness Syndrome |
Tietz Syndrome
|
Albinism-Deafness Of Tietz
|
Hypopigmentation/Deafness Of Tietz
|
Tietze'S Syndrome
|
TADS
|
Costochondral Junction Syndrome
|
Costochondritis
|
Tietze Syndrome
|
Hypopigmentation-Deafness Syndrome
|
Costalchondritis
|
Slipping Rib Syndrome
|
Tietze'S Disease
|
Chondropathia Tuberosa
|
Albinism And Complete Nerve Deafness
|
Tietz'S Syndrome
|
Hypopigmentation-Hearing Loss Syndrome
|
Costal Chondritis
|
Abnormality Of The Costochondral Junction
|
|
|
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
Congenital Myasthenic Syndrome 9
|
CMS9
|
Congenital Myasthenic Syndrome 9, Associated With Acetylcholine Receptor Deficiency
|
Myasthenic Syndrome, Congenital, Type 9, Associated With Acetylcholine Receptor Deficiency
|
|
|
Lentigines |
|
|
Anosognosia |
|
|
Neurofibromatosis, Type I |
Von Recklinghausen Disease
|
Neurofibromatosis 1
|
Neurofibromatosis, Type 1
|
NF1
|
Neurofibromatosis, Peripheral Type
|
Neurofibromatosis Type I
|
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
|
Familial Spinal Neurofibromatosis
|
Fsnf
|
Peripheral Neurofibromatosis
|
Von Recklinghausen'S Neurofibromatosis
|
Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion
|
Neurofibromatosis Peripheral Type
|
Von Recklinghausen Syndrome
|
Neurofibromatosis Type 1
|
Von Recklinghausen Neuropathy
|
Nf1 - [Neurofibromatosis Type 1]
|
Recklinghausen Disease
|
|
|
Ewing Sarcoma |
Neuroepithelioma
|
Ewing'S Tumor
|
Primitive Neuroectodermal Tumor
|
Ewings Sarcoma
|
Ewing'S Sarcoma
|
Peripheral Neuroepithelioma
|
ES
|
Ewings Sarcoma-Primitive Neuroectodermal Tumor
|
Localized Peripheral Primitive Neuroectodermal Tumor
|
Peripheral Primitive Neuroectodermal Tumor
|
Ewing Tumor
|
Sarcoma, Ewing'S
|
Ewing Family Of Tumors
|
Extraosseous Ewing Tumor
|
Askin Tumor
|
Ewing'S Family Localized Tumor
|
Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor
|
Localized Ewing Sarcoma
|
Localized Ewing'S Sarcoma
|
Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor
|
Localized Ewing'S Tumor
|
Pnet Of Thoracopulmonary Region
|
Tumor Of The Ewing Family
|
Skeletal Ewing Sarcoma
|
Osseous Ewing Sarcoma
|
Ppnet
|
Peripheral Pnet
|
Extraskeletal Ewing Sarcoma
|
Eoe
|
Extraosseous Ewing Sarcoma
|
Extraskeletal Ewing Tumor
|
Esft
|
Ewing Sarcoma Family Of Tumors
|
Pne
|
Pnet
|
Pnet Of The Chest Wall
|
Sarcoma, Ewing
|
Neuroectodermal Tumors, Primitive, Peripheral
|
Neuroectodermal Tumor, Primitive
|
Disorder Of Eye
|
Askin'S Tumor
|
Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor
|
Neuroepithelioma, Peripheral
|
|
|
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
|
|
|
Testicular Germ Cell Cancer |
Germ Cell Tumor Of Testis
|
Testicular Germ Cell Tumor
|
Testicular Germ Cell Neoplasm
|
Testicular Malignant Germ Cell Tumor
|
|
|
Testicular Disease |
Testicular Dysfunction
|
Testicular Diseases
|
Disorder Of Testis
|
Testis Disorder
|
Testicular Disorders
|
|
|
Asthma |
Chronic Obstructive Asthma
|
Asthma, Diminished Response To Antileukotriene Treatment In
|
Bronchial Hyperreactivity
|
Asthma, Susceptibility To
|
Asthma, Bronchial
|
Asthma, Protection Against
|
Asthma, Nocturnal, Susceptibility To
|
Nocturnal Asthma
|
Asthma-Related Traits
|
Asthma-Related Traits, Susceptibility To
|
Asthma, Nocturnal
|
Chronic Obstructive Asthma With Acute Exacerbation
|
Chronic Obstructive Asthma With Status Asthmaticus
|
Exercise Induced Asthma
|
Exercise-Induced Asthma
|
Bronchial Asthma
|
Asthma, Exercise-Induced
|
Idiosyncratic Asthma
|
Unspecified Asthma With Acute Exacerbation
|
Asthma, Unspecified, With Stated Status Asthmaticus
|
Status Asthmaticus Nos
|
Acute Severe Asthma
|
Acute Severe Bronchial Asthma
|
Status Asthma
|
Status Post Asthmaticus
|
|
|
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
|
|
|
Childhood Germ Cell Cancer |
Pediatric Germ Cell Tumor
|
Paediatric Germ Cell Cancer
|
Paediatric Germ Cell Neoplasm
|
Pediatric Germ Cell Cancer
|
Pediatric Germ Cell Neoplasm
|
|
|
Plexiform Neurofibroma |
Neurofibroma Plexiform
|
Neurofibroma, Plexiform
|
|
|
Brain Germinoma |
Intracranial Germinoma
|
Germinoma Of The Brain
|
|
|
Waardenburg'S Syndrome |
Waardenburg Syndrome
|
Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
|
Van Der Hoeve Halbertsona Waardenburg Syndrome
|
Waardenburg Shah Syndrome
|
Waardenburg, Types I And/Or Ii
|
Mende Syndrome
|
Waardenburgs Syndrome
|
Waardenburg Syndrome, Type 4a
|
|
|
Burkitt Lymphoma |
Burkitt'S Lymphoma
|
BL
|
Burkitt Lymphoma, Somatic
|
Burkitt Lymphoma/Leukaemia
|
Burkitt'S Tumor
|
Burkitt'S Tumor Or Lymphoma
|
Malignant Lymphoma, Burkitt'S Type
|
Small Non-Cleaved Cell Lymphoma, Burkitt'S Type
|
Small Non-Cleaved Cell Lymphoma
|
Burkitt Tumor
|
Burkitts Lymphoma
|
Lymphoma, Small Noncleaved-Cell
|
Burkitt Tumour
|
Diffuse Small Noncleaved Malignant Burkitt Lymphoma
|
Malignant Burkitt Lymphoma
|
“Burkitt-Like” Lymphoma
|
Undifferentiated Burkitt Lymphoma
|
Small Noncleaved Cell Burkitt Lymphoma
|
|
|
Leukemia, Acute Lymphoblastic |
Acute Lymphoblastic Leukemia
|
ALL
|
Acute Lymphocytic Leukemia
|
Leukemia, Acute Lymphocytic, Susceptibility To, 1
|
Acute Lymphoblastic Leukaemia
|
Precursor Lymphoblastic Lymphoma/Leukemia
|
Precursor Lymphoid Neoplasm
|
Leukemia, Acute Lymphoblastic, Susceptibility To
|
B-Cell Acute Lymphoblastic Leukemia
|
Leukemia, Acute Lymphocytic 1
|
Acute Lymphocytic Leukaemia
|
Acute Lymphoblastic Leukemia/Lymphoma
|
All1
|
Childhood Acute Lymphoblastic Leukemia
|
Leukemia Acute Lymphoblastic 1
|
Leukemia Acute Lymphoblastic B-Hyperdiploid
|
Leukemia Acute Lymphocytic
|
Leukemia Acute Lymphocytic 1
|
Leukemia B-Cell Acute Lymphoblastic
|
Leukemia T-Cell Acute Lymphoblastic
|
Leukemia, Acute Lymphoblastic, 3
|
ALL3
|
Lymphoblastic Leukemia Acute
|
Leukemia, Acute, Lymphoblastic
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
Leukemia, Lymphocytic, Acute, L1
|
Leukemia, Acute Lymphoblastic, Susceptibility To, 3
|
|
|
Acute Promyelocytic Leukemia |
Leukemia, Acute Promyelocytic
|
Acute Myeloblastic Leukemia Type 3
|
Aml M3
|
APL
|
Leukemia, Acute Promyelocytic, Somatic
|
Aml With T(15
|
17)(Q22
|
Q12)
|
(Pml/Raralpha) And Variants
|
Apml
|
Acute Myeloblastic Leukemia 3
|
Acute Myeloid Leukemia With T(15
|
17)(Q22
|
Q12)
|
(Pml/Raralpha) And Variants
|
Acute Myeloblastic Leukaemia Type 3
|
Acute Myeloid Leukaemia M3
|
Acute Myeloid Leukemia M3
|
Acute Promyelocytic Leukaemia
|
M3 Anll
|
Myeloid Leukemia, Acute, M3
|
Leukemia Promyelocytic Acute
|
Leukemia, Promyelocytic, Acute
|
Leukemia, Acute, Promyelocytic
|
|
|
Acute Erythroid Leukemia |
Acute Erythroleukemia
|
Di Guglielmo'S Syndrome
|
Aml M6
|
Acute Myeloid Leukemia Fab-M6
|
Acute Myeloid Leukemia M6
|
Erythroleukemia
|
Aml-M6
|
Acute Erythroleukemia M6a Subtype
|
Acute Erythroleukemia M6b Subtype
|
Di Guglielmo Syndrome
|
Acute Myeloid Leukemia, M6 Type
|
Acute Erythroblastic Leukemia
|
Acute Erythroleukemia - M6a Subtype
|
Acute Erythroleukemia - M6b Subtype
|
Acute Erythraemia And Erythroleukaemia
|
Acute Erythroid Leukaemia Without Mention Of Remission
|
Erythraemia
|
Erythraemic Myelosis
|
Erythroleukaemia
|
Acute Erythraemic Myelosis
|
Acute Erythraemia
|
|
|
Colorectal Cancer |
Colon Cancer
|
Colorectal Carcinoma
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
Carcinoma Of Colon
|
CRC
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
Colorectal Carcinomas
|
Colon Cancers
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
Malignant Tumor Of Colon
|
|
|
Breast Cancer |
Breast Carcinoma
|
Male Breast Cancer
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
Mammary Cancer
|
Mammary Tumor
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
Familial Breast Cancer
|
Cancer Of Breast
|
BC
|
Breast Cancer Familial
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
Breast Male Carcinoma
|
Breast Neoplasms
|
Breast Neoplasms, Male
|
Mammary Tumors
|
Mammary Carcinomas
|
Cancer, Breast
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
Carcinoma With Apocrine Differentiation
|
|
|
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
|
|
|
Pulsating Exophthalmos |
|
|
Waardenburg Syndrome, Type 4a |
Waardenburg-Shah Syndrome
|
Shah-Waardenburg Syndrome
|
Waardenburg Syndrome Type 4a
|
WS4A
|
Ws4
|
Waardenburg Syndrome Type 4
|
Waardenburg Syndrome Type Iva
|
Waardenburg Syndrome With Hirschsprung Disease Type 4a
|
Hirschsprung Disease With Pigmentary Anomaly
|
Waardenburg-Hirschsprung Syndrome
|
Waardenburg Syndrome, Type Iva
|
Waardenburg Syndrome With Hirschsprung Disease, Type 4a
|
Waardenburg-Hirschsprung Disease
|
Waardenburg Syndrome, Type 4
|
Waardenburg Syndrome 4a
|
|
|
Hemoglobinopathy |
|
|
Melanoma |
Malignant Melanoma
|
Cutaneous Melanoma
|
Naevocarcinoma
|
Malignant Melanomas
|
|
|
Premature Menopause |
Primary Ovarian Insufficiency
|
Premature Ovarian Failure
|
Hypergonadotropic Hypogonadism
|
Premature Ovarian Insufficiency
|
Menopause - Premature
|
Menopause Praecox
|
Menopause Premature
|
Menopause, Premature
|
Female Hypergonadotropic Hypogonadism
|
Hypergonadotrophic Ovarian Failure
|
Primary Female Hypogonadism
|
Pof - [Premature Ovarian Failure]
|
Ovarian Failure
|
Ovarian Secretion Suppression
|
Ovary Hyposecretion
|
Ovary Secretion Deficiency
|
Premature Menopause Nos
|
|
|
Dermatitis, Atopic |
Atopic Dermatitis
|
Atopic Eczema
|
Dermatitis, Atopic, Susceptibility To, 1
|
Atod
|
Eczema, Atopic
|
Dermatitis, Atopic 1
|
Allergic Dermatitis
|
Atopic Neurodermatitis
|
Besnier'S Prurigo
|
Dermatitis, Atopic, 1
|
Dermatitis Atopic
|
Eczema
|
Besnier Prurigo
|
|
|
Germ Cell Cancer |
Malignant Germ Cell Tumor
|
Neoplasms, Germ Cell And Embryonal
|
Germ Cell Neoplasm
|
Germ Cell Tumour
|
Malignant Tumor Of The Germ Cell
|
Neoplasms Germ Cell
|
Malignant Germ Cell Neoplasm
|
|
|
Duodenum Adenoma |
|
|
Akinetopsia |
|
|
Testicular Cancer |
Testis Cancer
|
Testicular Carcinoma
|
Testicular Neoplasms
|
Malignant Neoplasm Of Testis
|
Childhood Neoplasm Of The Testis
|
Neoplasm Of Testis
|
Pediatric Testicular Neoplasm
|
Testicular Tumor
|
Testis Neoplasm
|
Testicular Tumors
|
Testicular Neoplasm
|
Testicular Malignant Germ Cell Tumor
|
Childhood Testicular Neoplasm
|
Carcinoma Of The Testis
|
Cancer Of Testis
|
Malignant Neoplasm Of Testis, Nos
|
Malignant Neoplasm Of Testis, Unspecified
|
Malignant Tumour Of Testis
|
Testicle Cancer
|
Primary Malignant Neoplasm Of Testis
|
|
|
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]
|
|
|
Inflammatory Bowel Disease |
Inflammatory Bowel Diseases
|
Bowel Disease, Inflammatory
|
|
|
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
|
|
|
Spermatogenic Failure |
Azoospermia
|
Spgf
|
Spermatogenic Failure, Susceptibility To
|
Absent Sperm
|
Aspermatogenesis
|
Infertility Due To Azoospermia
|
Hypospermatogenesis
|
Azoospermatism
|
|
|
Laryngeal Small Cell Carcinoma |
Small Cell Carcinoma Of Larynx
|
|
|
Sodoku Disease |
Spirillosis
|
Sodoku
|
Spirillary Fever
|
Rat-Bite Fever
|
Rat-Bite Fever Due To Spirillum Minus
|
Spirillary Rat-Bite Fever
|
Sokosho
|
|
|
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
|
|
|
Melanoma, Cutaneous Malignant 1 |
Familial Melanoma
|
Melanoma, Cutaneous Malignant, Susceptibility To, 1
|
Melanoma, Malignant
|
CMM1
|
Melanoma, Cutaneous Malignant
|
Cmm
|
Familial Atypical Mole-Malignant Melanoma Syndrome
|
Fammm
|
Melanoma, Familial
|
Mlm
|
Dysplastic Nevus Syndrome, Hereditary
|
Dns
|
B-K Mole Syndrome
|
Melanoma, Cutaneous Malignant, 1
|
Malignant Melanoma, Cutaneous
|
Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1
|
Dysplastic Nevus Syndrome
|
Cutaneous Melanoma
|
Familial Atypical Mole Melanoma Syndrome
|
Hereditary Melanoma
|
|
|
Lymphoma, Non-Hodgkin, Familial |
Non-Hodgkin Lymphoma
|
Lymphoma, Non-Hodgkin
|
NHL
|
Lymphoma, Non-Hodgkin, Somatic
|
Lymphoma, Follicular, Somatic
|
Familial Non-Hodgkin Lymphoma
|
Lymphoma Non-Hodgkins
|
Follicular Lymphoma, Somatic
|
Lymphosarcoma
|
Non-Hodgkins Lymphoma
|
|
|
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
|
|
|
Autism |
Autistic Disorder
|
Autism Susceptibility 1
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
Kanner'S Syndrome
|
Autistic
|
|
|
Hirschsprung Disease 1 |
Hirschsprung Disease
|
Aganglionic Megacolon
|
Hscr
|
Hirschsprung'S Disease
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
Mgc
|
Pelvirectal Achalasia
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
Macrocolon
|
Hscr 1
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
Hirschsprung Megacolon
|
|
|