| 疾病名称 |
别名 |
|
| Griscelli Syndrome, Type 2 |
|
Griscelli Syndrome Type 2
|
GS2
|
|
Griscelli Syndrome With Hemophagocytic Syndrome
|
Partial Albinism And Immunodeficiency Syndrome
|
|
Paid Syndrome
|
Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome
|
|
Griscelli-Prunieras Syndrome Type 2
|
Griscelli-Pruniéras Syndrome Type 2
|
|
Griscelli Syndrome 2
|
|
|
| Griscelli Syndrome |
|
Chediak-Higashi-Like Syndrome
|
Griscelli-Prunieras Syndrome
|
|
Partial Albinism-Immunodeficiency Syndrome
|
Griscelli Disease
|
|
Gs
|
Hypopigmentation Immunodeficiency Disease
|
|
Partial Albinism With Immunodeficiency
|
Immunodeficiency Syndrome With Hypopigmentation
|
|
Hypopigmentation-Immunodeficiency Disease
|
|
|
| Autoinflammatory Syndrome |
|
|
| Piebald Trait |
|
Piebaldism
|
PBT
|
|
Partial Albinism
|
Albinoidism, Oculocutaneous, Autosomal Dominant
|
|
|
| Hemophagocytic Lymphohistiocytosis |
|
Lymphohistiocytosis, Hemophagocytic
|
Haemophagocytic Syndrome
|
|
Lymphohistiocytosis Hemophagocytic
|
Hemophagocytic Syndrome
|
|
Familial Hemophagocytic Lymphocytosis
|
Histiocytoses Of Mononuclear Phagocytes
|
|
Haemophagocytic Lymphohistiocytosis Nos
|
|
|
| Multisystem Inflammatory Syndrome In Children |
|
Mis-C
|
Multisystem Inflammatory Disorder In Children And Adolescents
|
|
Paediatric Inflammatory Multisystemic Syndrome
|
Mic
|
|
|
| Chediak-Higashi Syndrome |
|
CHS
|
Chédiak-Higashi Syndrome
|
|
Chediak - Steinbrinck Anomaly
|
Chediak Higashi Syndrome
|
|
Chediak-Steinbrinck-Higashi Syndrome
|
Oculocutaneous Albinism With Leukocyte Defect
|
|
Chediak-Higashi Disease
|
Chediak-Higashi-Steinbrink Syndrome
|
|
|
| Choroideremia |
|
CHM
|
Tcd
|
|
Progressive Tapetochoroidal Dystrophy
|
Choroidal Sclerosis
|
|
Tapetochoroidal Dystrophy, Progressive
|
Progressive Choroidal Atrophy
|
|
Tapetochoroidal Dystrophy
|
|
|
| Macrophage Activation Syndrome |
|
|
| Griscelli Syndrome, Type 3 |
|
Griscelli Syndrome Type 3
|
GS3
|
|
Griscelli-Prunieras Syndrome Type 3
|
Hypomelanosis With No Immunologic Or Neurologic Manifestations
|
|
Griscelli Syndrome 3
|
|
|
| Cystinosis |
|
Cystine Storage Disease
|
Cystine Diathesis
|
|
Cystine Disease
|
Cystinoses
|
|
Protein Defect Of Cystin Transport
|
Cystin Transport, Protein Defect Of
|
|
Nephropathic Cystinosis
|
Protein Defect Of Cystine Transport
|
|
|
| Thyroid Dyshormonogenesis 3 |
|
TDH3
|
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 3
|
|
Thyroid Hormonogenesis, Genetic Defect In, 3
|
Genetic Defect In Thyroid Hormonogenesis 3
|
|
Chdh3
|
Congenital Hypothyroidism Due To Dyshormonogenesis Type 3
|
|
Genetic Defect In Thyroid Hormonogenesis Type 3
|
|
|
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Familial Hemophagocytic Lymphohistiocytosis
|
Fhl
|
|
Familial Erythrophagocytic Lymphohistiocytosis
|
Hemophagocytic Syndrome
|
|
FHL1
|
Hplh1
|
|
Hlh1
|
Fel
|
|
Familial Hemophagocytic Lymphohistiocytosis 1
|
Primary Hemophagocytic Lymphohistiocytosis
|
|
Familial Hlh
|
Hlh
|
|
Familial Hemophagocytic Lymphocytosis
|
Hemophagocytic Lymphohistiocytosis, Familial
|
|
Reticulosis, Familial Histiocytic
|
Hemophagocytic Reticulosis, Familial
|
|
Erythrophagocytic Lymphohistiocytosis, Familial
|
Familial Histiocytic Reticulosis
|
|
Familial Hemophagocytic Histiocytosis
|
Familial Hemophagocytic Reticulosis
|
|
Fhlh
|
Hplh
|
|
Primary Hemophagocytic Hymphohistiocytosis
|
Genetic Hemophagocytic Lymphohistiocytosis
|
|
Hemophagocytic Lymphohistiocytosis
|
Familial Hemophagocytic Lymphohistiocytosis Type 1
|
|
|
| Hermansky-Pudlak Syndrome |
|
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
|
Platelet Storage Pool Deficiency
|
|
|
| Griscelli Syndrome, Type 1 |
|
Griscelli Syndrome Type 1
|
GS1
|
|
Griscelli Syndrome With Neurologic Impairment
|
Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome
|
|
Griscelli Syndrome, Cutaneous And Neurologic Type
|
Griscelli-Prunieras Syndrome Type 1
|
|
Hypopigmentation-Neurologic Impairment Syndrome
|
Griscelli Syndrome With Neurological Impairment
|
|
Griscelli Syndrome, Cutaneous And Neurological Type
|
Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts
|
|
Griscelli Syndrome 1
|
Griscelli Syndrome With Primary Neurologic Impairment
|
|
|
| Pancytopenia |
|
|
| Psoriasis 15 |
|
|
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
XLP2
|
Xiap Deficiency
|
|
X-Linked Lymphoproliferative Syndrome 2
|
X-Linked Lymphoproliferative Disease Due To Xiap Deficiency
|
|
Xiap-Related Lymphoproliferative Disease, X-Linked
|
X-Linked Lymphoproliferative Syndrome Type 2
|
|
Xiap Deficiency Syndrome
|
|
|
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Familial Hemophagocytic Lymphohistiocytosis 4
|
FHL4
|
|
Hplh4
|
Hlh4
|
|
Lymphohistiocytosis, Hemophagocytic, Familial, Type 4
|
|
|
| Bladder Cancer |
|
Urinary Bladder Cancer
|
Bladder Carcinoma
|
|
Urinary Bladder Carcinoma
|
Bladder Neoplasm
|
|
Bladder Tumor
|
Cancer, Bladder
|
|
Malignant Neoplasm Of Urinary Bladder
|
Carcinoma Of Bladder
|
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Bladder Cancer, Somatic
|
Tumor Of The Bladder
|
|
Carcinoma Of Urinary Bladder
|
Bladder Carcinoma Urinary
|
|
Cancer Of The Urinary Bladder
|
Cancer, Urinary Bladder
|
|
Malignant Bladder Neoplasm
|
Malignant Bladder Tumor
|
|
Neoplasm Of The Bladder
|
Neoplasm Of The Urinary Bladder
|
|
Tumor Of The Urinary Bladder
|
Urinary Bladder Neoplasm
|
|
BLC
|
Urothelial Carcinoma Of The Bladder
|
|
Bladder Tumors
|
Urinary Bladder Neoplasms
|
|
Bladder Cancer Nos
|
Vesical Cancer Nos
|
|
Malignant Neoplasm Of Bladder, Part Unspecified
|
Malignant Tumour Of Urinary Bladder
|
|
Primary Malignant Neoplasm Of Bladder
|
|
|
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Familial Hemophagocytic Lymphohistiocytosis 3
|
FHL3
|
|
Hplh3
|
Hlh3
|
|
Lymphohistiocytosis, Hemophagocytic, Familial, Type 3
|
|
|
| Choroid Disease |
|
Choroid Diseases
|
Abnormality Of The Choroid
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphomatoid Papulosis
|
Duncan Disease
|
|
Purtilo Syndrome
|
X-Linked Lymphoproliferative Syndrome
|
|
Xlp
|
X-Linked Lymphoproliferative Disease
|
|
XLP1
|
Lyp
|
|
Lymphoproliferative Disease, X-Linked
|
Xlpd
|
|
X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency
|
Ebv Infection, Severe, Susceptibility To
|
|
Ebvs
|
Immunodeficiency 5
|
|
Imd5
|
X-Linked Lymphoproliferative Syndrome 1
|
|
Epstein-Barr Virus Infection, Familial Fatal
|
Ebv Infection, Severe
|
|
Infectious Mononucleosis, Severe
|
Infectious Mononucleosis, Severe, Susceptibility To
|
|
Immunodeficiency, X-Linked Progressive Combined Variable
|
Epstein Barr Virus Infection, Familial Fatal
|
|
X-Linked Progressive Combined Variable Immunodeficiency 5
|
Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males
|
|
Familial Fatal Epstein-Barr Infection
|
Severe Susceptibility To Ebv Infection
|
|
Severe Susceptibility To Infectious Mononucleosis
|
Sap Deficiency
|
|
Sh2d1a/Slam-Associated Protein Deficiency
|
X-Linked Lymphoproliferative Syndrome Type 1
|
|
X-Linked Progressive Combined Variable Immunodeficiency
|
Lymphoproliferative Syndrome, X-Linked
|
|
Sap
|
X-Linked Lymphoproliferative Disorder
|
|
|
| Immune Deficiency Disease |
|
Immunodeficiency
|
Primary Immunodeficiency
|
|
Primary Immunodeficiency Disease
|
Immunologic Deficiency Syndromes
|
|
Hypoimmunity
|
Immune Deficiency Disorder
|
|
Immunodeficiency Syndrome
|
Immune Disorder
|
|
Primary Immune Deficiency Disorder
|
Immune System Diseases
|
|
Human Immunodeficiency Virus Infection
|
Hiv - [Human Immunodeficiency Virus Infection]
|
|
Hiv Positive Nos
|
Hiv Disease
|
|
Acquired Immune Deficiency Syndrome-Related Complex
|
Aids-Like Syndrome
|
|
Aids-Related Complex Nos
|
Arc - [Aids-Related Complex]
|
|
Immunodeficiency Due To Human Immunodeficiency Virus Infection
|
Unspecified Human Immunodeficiency Virus Disease
|
|
Hiv Disease Nos
|
Human Immunodeficiency Virus Positive Nos
|
|
Hiv Nos
|
Deficiency Of Complement Initial Pathway
|
|
Deficiency Of Complement Terminal Pathway
|
Cfdd - [Complement Factor D Deficiency]
|
|
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency
|
Nonfamilial Hypogammaglobulinaemia
|
|
Common Variable Immune Deficiency
|
Nonfamilial Agammaglobulinaemia
|
|
Common Variable Agammaglobulinaemia
|
Agammaglobulinaemia Nos
|
|
Agammaglobulinaemia Antibody Deficiency Syndrome
|
Hypogammaglobulinaemia Antibody Deficiency Syndrome
|
|
Acquired Agammaglobulinaemia Nos
|
Hypogammaglobulinaemia Nos
|
|
Hyper Igm
|
|
|
| Immunodeficiency 27a |
|
IMD27A
|
Autosomal Recessive Ifngr1 Deficiency
|
|
Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis
|
Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency
|
|
Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency
|
Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency
|
|
Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency
|
Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive
|
|
Ifngr1 Deficiency, Autosomal Recessive
|
Immunodeficiency 27a, Mycobacteriosis, Ar
|
|
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency
|
Msmd Due To Complete Ifngammar1 Deficiency
|
|
Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency
|
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency
|
|
Familial Disseminated Atypical Mycobacterial Infection
|
Interferon Gamma, Receptor 1, Deficiency
|
|
Immunodeficiency, Type 27a, Mycobacteriosis, Ar
|
Mycobacterial Disease, Mendelian Susceptibility To
|
|
|
| Warburg Micro Syndrome 1 |
|
Warburg Micro Syndrome
|
Micro Syndrome
|
|
Warbm
|
WARBM1
|
|
Warburg Sjo Fledelius Syndrome
|
Warburg-Sjo-Fledelius Syndrome
|
|
Micro Syndrome 1
|
Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
|
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|
