| 疾病名称 |
别名 |
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| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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CLIFAHDD
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Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
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Clifahdd Syndrome
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Doid:0081048
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Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
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| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
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IHPRF1
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Ihprf
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Infantile Neuroaxonal Neurodegeneration With Facial Dysmophism
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Innfd
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Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies, Type 1
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Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies
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| Strabismus |
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Strabismus, Susceptibility To
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Strabismus, Susceptibility To, 1
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Strabismus 1
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| Arthrogryposis, Distal, Type 2a |
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Freeman-Sheldon Syndrome
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Craniocarpotarsal Dystrophy
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Craniocarpotarsal Dysplasia
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DA2A
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Whistling Face-Windmill Vane Hand Syndrome
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Fss
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Distal Arthrogryposis Type 2a
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Whistling Face Syndrome
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Freeman-Burian Syndrome
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Arthrogryposis Distal Type 2a
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Distal Arthrogryposis, Type 2a
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Fbs
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Arthrogryposis, Distal, 2a
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| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
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Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies
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Ihprf Syndrome
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Infantile Hypotonia-Psychomotor Retardation-Characteristic Facies Syndrome
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
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Nervous System Disorder
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
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| Arthrogryposis, Distal, Type 2b1 |
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Sheldon-Hall Syndrome
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Freeman-Sheldon Syndrome Variant
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Distal Arthrogryposis Type 2b1
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DA2B1
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Arthrogryposis Multiplex Congenita, Distal, Type 2b
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Shs
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Distal Arthrogryposis Type 2b
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Fssv
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Arthrogryposis Multiplex Congenita Distal Type 2b
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Arthrogryposis Multiplex Congenita Distal Type Ii With Craniofacial Abnormalities
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Da2b
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Arthrogryposis Multiplex Congenita, Distal, Type Ii, With Craniofacial Abnormalities
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Distal Arthrogryposis Type Iib
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Freeman Sheldon Syndrome, Variant
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Freeman Sheldon Variant
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Arthrogryposis, Distal, 2b1
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Amcd2b
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| Arthrogryposis, Distal, Type 1a |
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Distal Arthrogryposis Type 1
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Digitotalar Dysmorphism
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DA1A
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Da1
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Amcd1
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Arthrogryposis, Distal, Type 2b4
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Distal Arthrogryposis Type 1a
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Arthrogryposis, Distal, Type 1
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Arthrogryposis Multiplex Congenita Distal Type 1
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Arthrogryposis Multiplex Congenita, Distal Type 1
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Arthrogryposis Multiplex Congenita, Distal, Type I
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Distal Arthrogryposis Type 1b
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Arthrogryposis, Distal, 1a
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Amc
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Arthrogryposis Multiplex Congenita
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Arthrogryposis, Distal, 2b4
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DA2B4
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Arthrogryposis Multiplex Congenita, Distal, Type 1
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Arthrogryposis
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| Neuroaxonal Dystrophy |
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| Congenital Contractures |
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| Distal Arthrogryposis |
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Arthrogryposis Multiplex Congenita
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Arthrogryposis
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Congenital Multiple Arthrogryposis
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Congenital Arthromyodysplasia
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Fibrous Ankylosis Of Multiple Joints
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Guerin-Stern Syndrome
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Guérin-Stern Syndrome
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Myodystrophia Fetalis Deformans
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Otto Syndrome
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Rocher-Sheldon Syndrome
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Rossi Syndrome
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Amc
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Multiple Congenital Arthrogryposis
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Arthrogryposis Syndrome
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Arthrogryposis, Distal
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Distal Arthrogryposis Syndrome
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Freeman-Sheldon Syndrome
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Arthrogryposis, Distal, Type 2b
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Congenital Multiplex Arthrogryposis
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Amyoplasia Congenita
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Congenital Amyoplasia
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Amc - [Arthrogryposis Multiplex Congenita]
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| Hypotonia, Infantile, With Psychomotor Retardation |
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IHPMR
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Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome
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| Subacute Delirium |
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Delirium
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Acute Confusional State Nos
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| Developmental And Epileptic Encephalopathy 11 |
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Epileptic Encephalopathy, Early Infantile, 11
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DEE11
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Eiee11
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Developmental And Epileptic Encephalopathy, 11
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Early Infantile Epileptic Encephalopathy 11
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Encephalopathy, Developmental And Epileptic, Type 11
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| Fetal Akinesia Deformation Sequence 1 |
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Fetal Akinesia Deformation Sequence
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Fads
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Fetal Akinesia Sequence
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FADS1
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Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia
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Pena-Shokeir Syndrome Type 1
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Fetal Akinesia Deformation Sequence Syndrome
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Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
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Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
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Pena-Shokeir Syndrome, Type I
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Foetal Akinesia Deformation Sequence Syndrome
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Foetal Akinesia Sequence
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Fetal Akinesia Deformation Sequence Syndrome 1
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Pena-Shokeir Syndrome, Type 1
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Pena Shokeir Syndrome, Type 1
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Akinesia, Fetal, Deformation Sequence
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Akinesia, Fetal, Deformation Sequence, Type 1
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Pena-Shokeir Syndrome Type I
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| Hypotonia |
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| Combined Oxidative Phosphorylation Deficiency 30 |
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COXPD30
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Combined Oxidative Phosphorylation Defect Type 30
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Combined Oxidative Phosphorylation Deficiency, Type 30
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| Treacher Collins Syndrome 3 |
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TCS3
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Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive
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Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive
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| Corneal Dystrophy, Endothelial, X-Linked |
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X-Linked Endothelial Corneal Dystrophy
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XECD
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Endothelial Corneal Dystrophy, X-Linked
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|
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| Episodic Ataxia, Type 8 |
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Episodic Ataxia Type 8
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EA8
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Episodic Ataxia With Slurred Speech
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| Cold-Induced Sweating Syndrome |
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Crisponi Syndrome
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Sohar-Crisponi Syndrome
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Ciss
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Cntf Receptor-Related Disorders
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Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death
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Sweating Syndrome, Cold-Induced
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| Constipation |
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| Cervical Dystonia |
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| Combined Oxidative Phosphorylation Deficiency 6 |
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Severe X-Linked Mitochondrial Encephalomyopathy
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COXPD6
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Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6
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Mitochondrial Encephalomyopathy Due To Coxpd6
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Encephalomyopathy, Mitochondrial, X-Linked
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Encephalomyopathy Mitochondrial X-Linked
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Oxidative Phosphorylation Deficiency, Combined, Type 6
|
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| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
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BBSOAS
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Optic Atrophy-Intellectual Disability Syndrome
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| Schaaf-Yang Syndrome |
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Prader-Willi-Like Syndrome
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Chitayat-Hall Syndrome
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SHFYNG
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Pwls
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Magel2-Related Prader-Willi-Like Syndrome
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Magel2-Related Pwls
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Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies
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Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A
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Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies
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Pws Due To A Point Mutation
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Pws Due To Point Mutation
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Prader-Willi Syndrome Due To A Point Mutation
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Prader-Willi Syndrome Due To Point Mutation
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Pws-Like
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| Corneal Dystrophy, Posterior Polymorphous, 1 |
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Posterior Polymorphous Corneal Dystrophy
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Ppcd
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Maumenee Corneal Dystrophy
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Posterior Polymorphous Corneal Dystrophy 1
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PPCD1
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Corneal Dystrophy, Hereditary Polymorphous Posterior
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Corneal Endothelial Dystrophy 1, Autosomal Dominant
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Schlichting Dystrophy
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Ched1
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Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
|
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Ched1, Formerly
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Hereditary Polymorphus Posterior Corneal Dystrophy
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Posterior Polymorphous Dystrophy
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Hereditary Polymorphous Posterior Corneal Dystrophy
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Dystrophy, Corneal, Posterior Polymorphous
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Dystrophy, Corneal, Posterior Polymorphous, Type 1
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Polymorphous Corneal Dystrophy
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Corneal Endothelial Dystrophy 2
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| Multiple Pterygium Syndrome, Escobar Variant |
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Multiple Pterygium Syndrome
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Pterygium
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Escobar Syndrome
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EVMPS
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Pterygium Syndrome
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Autosomal Recessive Multiple Pterygium Syndrome
|
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Pterygium Colli Syndrome
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Pterygium Universale
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Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
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Escobar Variant Multiple Pterygium Syndrome
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Multiple Pterygium Syndrome, Nonlethal Type
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Surfer'S Eye
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Multiple Pterygium Syndrome Escobar Type
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Multiple Pterygium Syndrome Nonlethal Type
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Familial Pterygium Syndrome
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Pterygium Colli
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Multiple Pterygium Syndrome, Non-Lethal Type
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Nonlethal Type Multiple Pterygium Syndrome
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Pterygium Syndrome, Multiple, Escobar Type
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Pterygium Of Eye
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Web Eye
|
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| Central Sleep Apnea |
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Central Sleep Apnea Syndrome
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Sleep Apnea, Central
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Primary Central Sleep Apnea
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Central Sleep Apnea, Primary
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Central Sleep Apnoea Syndrome
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Csa - [Central Sleep Apnoea]
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Csas - [Central Sleep Apnoea Syndrome]
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Central Sleep Apnoea Due To Substances Including Medications
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| Advanced Sleep Phase Syndrome |
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Fasps
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Familial Advanced Sleep-Phase Syndrome
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Advanced Sleep Phase Syndrome, Familial
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Familial Advanced Sleep Phase Syndrome
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Sleep Phase Syndrome, Advanced, Familial
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Advanced Sleep-Phase Syndrome, Familial
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| Episodic Ataxia |
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Isaacs Syndrome
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Neuromyotonia
|
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Isaacs' Syndrome
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Acquired Neuromyotonia
|
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Continuous Muscle Fiber Activity Syndrome
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Quantal Squander Syndrome
|
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Isaacs-Mertens Syndrome
|
Ea Syndrome
|
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Episodic Ataxia Syndrome
|
Isaac Syndrome
|
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Isaac'S-Merten'S Syndrome
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Isaac-Mertens Syndrome
|
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Peripheral Nerve Hyperexcitability
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Ea
|
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Peripheral Nerve Hyperexcitability Syndrome
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Ataxia, Episodic
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Isaacs Neuromyotonia
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Continuous Muscle Fibre Activity
|
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| Noonan Syndrome 1 |
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Noonan Syndrome
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NS1
|
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Male Turner Syndrome
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Female Pseudo-Turner Syndrome
|
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Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
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Turner'S Phenotype, Karyotype Normal
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Familial Turner Syndrome
|
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Noonan'S Syndrome
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Noonan-Ehmke Syndrome
|
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Ns
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Pseudo-Ullrich-Turner Syndrome
|
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Turner Syndrome In Female With X Chromosome
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Turner-Like Syndrome
|
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Ullrich-Noonan Syndrome
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Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
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Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
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Pterygium Colli Syndrome
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Noonan Syndrome, Type 1
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Turner Syndrome, Male
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