| 疾病名称 |
别名 |
|
| Mevalonic Aciduria |
|
Mevalonate Kinase Deficiency
|
Mevalonicaciduria
|
|
Hyperimmunoglobulin D With Periodic Fever
|
MEVA
|
|
Complete Mevalonate Kinase Deficiency
|
Mva
|
|
Hyperimmunoglobulinemia D
|
Hyper Igd Syndrome
|
|
Periodic Fever, Dutch Type
|
Mkd
|
|
Aciduria, Mevalonic
|
Deficiency Of Mevalonate Kinase
|
|
|
| Hyper-Igd Syndrome |
|
HIDS
|
Hyperimmunoglobulinemia D And Periodic Fever Syndrome
|
|
Hyperimmunoglobinemia D With Recurrent Fever
|
Periodic Fever, Dutch Type
|
|
Hyper Igd Syndrome
|
Periodic Fever Dutch Type
|
|
Hyperimmunoglobulinemia D With Periodic Fever
|
Hyperimmunoglobulinemia D Syndrome
|
|
Partial Mevalonate Kinase Deficiency
|
Hyperimmunoglobulinemia D
|
|
Deficiency Of Mevalonate Kinase
|
|
|
| Porokeratosis 3, Multiple Types |
|
Porokeratosis, Disseminated Superficial Actinic, 1
|
Dsap1
|
|
Porokeratosis 3, Disseminated Superficial Actinic Type
|
POROK3
|
|
Porokeratosis, Disseminated Superficial Actinic 1
|
Disseminated Superficial Actinic Porokeratosis 1
|
|
Porokeratosis, Type 3, Multiple Types
|
|
|
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic Aciduria Cblb Type
|
Methylmalonic Acidemia Cblb Type
|
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type
|
Methylmalonic Acidemia, Cblb Type
|
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
|
|
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb
|
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
|
|
Methylmalonic Aciduria Type Cblb
|
MMAB
|
|
Methylmalonic Aciduria Type B
|
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
|
|
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B
|
Aciduria, Methylmalonic, Cblb Type
|
|
Methylmalonic Acidemia
|
Methylmalonic Aciduria
|
|
|
| Porokeratosis |
|
Disseminated Superficial Actinic Porokeratosis
|
Dsap
|
|
Porokeratosis Of Mibelli
|
Porokeratosis, Disseminated Superficial Actinic
|
|
Porokeratosis, Disseminated Superficial Actinic, 1
|
|
|
| Porokeratosis 1, Multiple Types |
|
Porokeratosis Of Mibelli
|
POROK1
|
|
Porokeratosis 1, Mibelli Type
|
|
|
| Autoinflammatory Syndrome |
|
|
| Periodic Fever, Familial, Autosomal Dominant |
|
Familial Hibernian Fever
|
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
|
|
Traps
|
FPF
|
|
Tnf Receptor-Associated Periodic Fever Syndrome
|
Hibernian Fever, Familial
|
|
Fhf
|
Tnf Receptor-Associated Periodic Syndrome
|
|
Autosomal Dominant Familial Periodic Fever
|
Periodic Fever, Familial
|
|
Tnf Receptor 1-Associated Periodic Syndrome
|
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
|
|
Familial Periodic Fever
|
Traps Syndrome
|
|
Tnf Receptor Associated Periodic Syndrome
|
Caledonian Fever
|
|
Fever, Periodic, Familial
|
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
|
|
|
| Relapsing Fever |
|
Febris Recurrens
|
Novy Febris Recurrens
|
|
Novy Relapsing Fever
|
|
|
| Rhizomelic Chondrodysplasia Punctata |
|
Chondrodysplasia Punctata, Rhizomelic
|
Rcdp
|
|
Chondrodysplasia Punctata, Rhizomelic Form
|
Rcp
|
|
Chondrodysplasia Punctata Rhizomelic
|
|
|
| Cinca Syndrome |
|
CINCA
|
Nomid
|
|
Cryopyrin-Associated Periodic Syndrome 3
|
Chronic Neurologic Cutaneous And Articular Syndrome
|
|
Multisystem Inflammatory Disease, Neonatal-Onset
|
Caps3
|
|
Chronic Infantile Neurological Cutaneous Articular Syndrome
|
Infantile-Onset Multisystem Inflammatory Disease
|
|
Iomid Syndrome
|
Neonatal-Onset Multisystem Inflammatory Disease
|
|
Nomid Syndrome
|
Prieur-Griscelli Syndrome
|
|
Neonatal Onset Multisystem Inflammatory Disease
|
Chronic Infantile Neurological, Cutaneous And Articular Syndrome
|
|
Iomid
|
Infantile Onset Multisystem Inflammatory Disease
|
|
Prieur Griscelli Syndrome
|
Chronic Infantile Neurological Cutaneous And Articular Syndrome
|
|
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome
|
Chronic Infantile Neurologic Cutaneous And Articular Syndrome
|
|
Chronic Infantile Neurological, Cutaneous, And Articular Syndrome
|
Cryopyrin-Associated Periodic Syndromes
|
|
|
| Cervical Adenitis |
|
|
| Blau Syndrome |
|
Arthrocutaneouveal Granulomatosis
|
Jabs Syndrome
|
|
BLAUS
|
Sarcoidosis, Early-Onset
|
|
Acug
|
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial
|
|
Eos
|
Granulomatosis, Familial Juvenile Systemic
|
|
Granulomatosis, Familial, Blau Type
|
Familial Juvenile Systemic Granulomatosis
|
|
Early Onset Sarcoidosis
|
Synovitis Granulomatous With Uveitis And Cranial Neuropathies
|
|
Early-Onset Sarcoidosis
|
Familial Granulomatosis, Blau Type
|
|
Pediatric Granulomatous Arthritis
|
Familial Granulomatosis Blau Type
|
|
Familial Granulomatous Inflammatory Arthritis Dermatitis And Uveitis
|
Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies
|
|
|
| Pyoderma Gangrenosum |
|
Phagedenic Pyoderma
|
Phagedena Geometric
|
|
|
| Familial Mediterranean Fever |
|
Periodic Fever Syndrome
|
FMF
|
|
Benign Paroxysmal Peritonitis
|
Periodic Disease
|
|
Recurrent Polyserositis
|
Familial Paroxysmal Polyserositis
|
|
Periodic Fever
|
Familial Mediterranean Fever, Autosomal Recessive
|
|
Familial Mediterranean Fever, Ar
|
Polyserositis, Recurrent
|
|
Polyserositis, Familial Paroxysmal
|
Periodic Peritonitis
|
|
Mef
|
Reimann Periodic Disease
|
|
Siegal-Cattan-Mamou Disease
|
Wolff Periodic Disease
|
|
Benign Recurrent Polyserositis
|
Mediterranean Fever, Familial
|
|
ARFMF
|
Autosomal Recessive Familial Mediterranean Fever
|
|
Fever, Mediterranean, Familial, Autosomal Recessive
|
Hereditary Autoinflammatory Diseases
|
|
Fmf - [Familial Mediterranean Fever]
|
Periodic Polyserositis
|
|
Periodic Familial Polyserositis
|
Periodic Familial Peritonitis
|
|
Paroxysmal Polyserositis
|
Hereditary Amyloid Nephropathy
|
|
Familial Recurrent Polyserositis
|
Familial Non-Neuropathic Amyloidosis
|
|
Armenian Disease
|
Riemann Periodic Disease
|
|
Siegal Cattan Mamou Disease
|
|
|
| Punctate Porokeratosis |
|
Porokeratosis, Punctate
|
Keratoderma, Palmoplantar, Punctate Type Ii
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| Linear Porokeratosis |
|
Congenital Facial Linear Porokeratosis
|
Porokeratosis, Linear
|
|
|
| Nutritional Deficiency Disease |
|
Malnutrition
|
Nutritional Disorder
|
|
Nutritional Deficiency
|
Nutrition
|
|
Deficiency Diseases
|
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
|
Nutrition Disorders
|
|
|
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Papa Syndrome
|
Fra
|
|
Familial Recurrent Arthritis
|
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
|
|
PAPAS
|
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
|
|
Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne
|
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne
|
|
|
| Familial Cold Autoinflammatory Syndrome 2 |
|
FCAS2
|
Nlrp12-Associated Hereditary Periodic Fever Syndrome
|
|
Familial Cold Autoinflammatory Syndrome Type 2
|
Familial Cold-Induced Autoinflammatory Syndrome Type 2
|
|
Naps12
|
Familial Cold Autoinflammatory Syndrome 2, Susceptibility To
|
|
Autoinflammatory Syndrome, Cold, Familial, Type 2
|
|
|
| Aphthous Stomatitis |
|
Oral Ulcer
|
Canker Sore
|
|
Aphtha
|
Aphthous Ulceration
|
|
Oral Aphthae
|
Oral Aphthous Ulcer
|
|
Canker Sores
|
Stomatitis, Aphthous
|
|
Minor Oral Aphthous Ulceration
|
|
|
| Familial Cold Autoinflammatory Syndrome |
|
Familial Cold Urticaria
|
Fcas
|
|
Familial Polymorphous Cold Eruption
|
Fcu
|
|
Cold Hypersensitivity
|
|
|
| Peroxisomal Disease |
|
Peroxisomal Disorder
|
Peroxisomal Disorders
|
|
Peroxisomal Defects
|
|
|
| Intestinal Obstruction |
|
Inspissated Milk Syndrome
|
Milk Curd Syndrome
|
|
|
| Phenylketonuria |
|
Phenylalanine Hydroxylase Deficiency
|
PKU
|
|
Pah Deficiency
|
Folling Disease
|
|
Maternal Phenylketonuria
|
Phenylketonurias
|
|
Oligophrenia Phenylpyruvica
|
Hyperphenylalaninemia, Non-Pku Mild
|
|
Folling'S Disease
|
Phenylalaninemia
|
|
Mild Phenylketonuria
|
Mild Pku
|
|
Variant Pku
|
Variant Phenylketonuria
|
|
Mpku
|
Deficiency Disease, Phenylalanine Hydroxylase
|
|
Phenylketonuria, Maternal
|
Phenylalanine Hydroxylase Deficiency Disease
|
|
Hyperphenylalaninemic Embryopathy
|
Maternal Pku
|
|
Maternal Hyperphenylalaninemia
|
Phenylketonuric Embryopathy
|
|
Hyperphenylalaninemia
|
HPA
|
|
Non-Phenylketonuria Hyperphenylalaninemia
|
NON-PKU HPA
|
|
Phenylketonuria Maternal
|
Classical Phenylketonuria
|
|
Hyperphenylalaninaemia
|
Pku - [Phenylketonuria]
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Muckle-Wells Syndrome |
|
MWS
|
Urticaria-Deafness-Amyloidosis Syndrome
|
|
Uda Syndrome
|
Neutrophilic Urticaria
|
|
Urticaria, Deafness And Amyloidosis
|
Cryopyrin-Associated Periodic Syndrome 2
|
|
Caps2
|
Muckle Wells Syndrome
|
|
Urticaria-Deafness-Amyloidosis
|
Cryopyrin-Associated Periodic Syndromes
|
|
|
| Galactosemia I |
|
Galactosemia
|
Galt Deficiency
|
|
Classic Galactosemia
|
Galactose-1-Phosphate Uridylyltransferase Deficiency
|
|
Galactose-1-Phosphate Uridyltransferase Deficiency
|
GALAC1
|
|
Galactosemia, Classic
|
Galactosemia Type 1
|
|
Galactosemias
|
Classical Galactosemia
|
|
Galactosaemia
|
Galactose Intolerance
|
|
Epimerase Deficiency Galactosemia
|
Galactokinase Deficiency Disease
|
|
Galactose Epimerase Deficiency
|
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
|
|
Gale Deficiency
|
Galk Deficiency
|
|
Udp-Galactose-4-Epimerase Deficiency Disease
|
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
|
|
Galactosemia 1
|
Galactosemia, Duarte Variant
|
|
Deficiency Of Galactokinase
|
Udpglucose 4-Epimerase Deficiency Disease
|
|
Classical Galactosaemia
|
Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
|
|
Classic Galactosaemia
|
Deficiency Of Hexose-1-Phosphate Uridylyltransferase
|
|
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase
|
Deficiency Of Galactose-1-Phosphate Uridylyltransferase
|
|
Galactose-1-Phosphate Uridyl Transferase Deficiency
|
Transferase Deficiency Galactosemia
|
|
Deficiency Of Uridyl Transferase
|
Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
|
|
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
|
|
|
| Erysipeloid |
|
Infection Due To Erysipelothrix Rhusiopathiae
|
Erysipelothrix Infection
|
|
|
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
SIFD
|
Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
|
|
Sifd Syndrome
|
|
|
| Psoriasis 15 |
|
|
| Pharyngitis |
|
Acute Pharyngitis
|
Chronic Pharyngitis
|
|
Acute Sore Throat
|
Chronic Sore Throat
|
|
Persistent Sore Throat
|
Pharyngeal Diseases
|
|
Chronic Pharyn/Nasopharyngitis
|
Chronic Pharyngitis And Nasopharyngitis
|
|
Inflamed Throat
|
Pharyngeal Disease
|
|
Pharyngeal Disorder
|
Pharyngitis - Acute
|
|
Sore Throat - Chronic
|
Acute Pharyngitis Nos
|
|
Acute Sore Throat Nos
|
Acute Throat Inflammation
|
|
Infective Pharyngitis
|
Infection Of Pharynx
|
|
Acute Infective Pharyngitis
|
Acute Infective Pharyngitis Nos
|
|
Acute Pharyngeal Inflammation
|
Inflammation Of The Throat
|
|
Throat Inflammation
|
Throat Infection
|
|
Putrid Pharyngitis
|
Pharyngeal Inflammation
|
|
Pharyngitis Nos
|
Chronic Throat Pain
|
|
Throat Catarrh
|
|
|
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Child Syndrome
|
Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs
|
|
Child Nevus
|
Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects
|
|
Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects
|
Ichthyosis, Child Syndrome
|
|
Child Syndrome Ichthyosis
|
CHILD
|
|
|
| Ck Syndrome |
|
CKS
|
X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome
|
|
Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
|
|
|
| Erysipelas |
|
|
| Diarrhea |
|
Diarrhoea
|
Diarrhea Of Presumed Infectious Origin
|
|
|
| Cataract 34, Multiple Types |
|
Cataract, Autosomal Recessive Congenital 3
|
Cataract 34 Multiple Types
|
|
CTRCT34
|
Catc3
|
|
Cataract 34, Multiple Types, With Or Without Microcornea
|
Autosomal Recessive Congenital Cataract 3
|
|
Cataract 34 Multiple Types With Or Without Microcornea
|
Cataract, Multiple Types, Type 34
|
|
|
| Pityriasis Rubra Pilaris |
|
PRP
|
Devergie'S Disease
|
|
Prp - [Pityriasis Rubra Pilaris]
|
|
|
| Periostitis |
|
|
| Pyoderma |
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| 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
|
|
|
| Behcet Syndrome |
|
Behcet Disease
|
Behcet'S Syndrome
|
|
Behcet'S Disease
|
Behçet Disease
|
|
Bd
|
Adamantiades-Behcet Disease
|
|
Triple Symptom Complex
|
Behçet'S Disease
|
|
Behet'S Syndrome
|
Bd Syndrome
|
|
Behçet Syndrome
|
Behçet'S Syndrome
|
|
Behcet Triple Symptom Complex
|
Malignant Aphthosis
|
|
Old Silk Route Disease
|
Adamantiades-Behçet Disease
|
|
|
