| 疾病名称 |
别名 |
|
| Marden-Walker Syndrome |
|
Mws
|
MWKS
|
|
Connective Tissue Disorder Marden Walker Type
|
Marden Walker Syndrome
|
|
|
| Arthrogryposis, Distal, Type 5 |
|
Oculomelic Amyoplasia
|
Distal Arthrogryposis Type 5
|
|
Distal Arthrogryposis Type Iib
|
DA5
|
|
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Daiib
|
|
Distal Arthrogryposis Type 2b
|
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
|
Distal Arthrogryposis With Ophthalmoplegia
|
Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
|
Arthrogryposis, Distal, Type Iib
|
Da2b
|
|
Freeman-Sheldon Syndrome Variant
|
Sheldon-Hall Syndrome
|
|
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Arthrogryposis Ophthalmoplegia Retinopathy
|
|
Arthrogryposis, Distal, 5
|
Arthrogryposis, Distal, Type 2b
|
|
|
| Arthrogryposis, Distal, Type 3 |
|
Gordon Syndrome
|
DA3
|
|
Distal Arthrogryposis Type 3
|
Arthrogryposis Multiplex Congenita, Distal, Type Iia
|
|
Camptodactyly, Cleft Palate, And Clubfoot
|
Camptodactyly-Cleft Palate-Clubfoot Syndrome
|
|
Distal Arthrogryposis Multiplex Congenita Type Iia
|
Arthrogryposis Distal Type 3
|
|
Distal Arthrogryposis Type Iia
|
Arthrogryposis, Distal, 3
|
|
Pseudohypoaldosteronism, Type Ii
|
|
|
| Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
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Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism Type 2e
|
PHA2E
|
|
Familial Hyperkalemic Hypertension
|
Gordon'S Syndrome
|
|
Phaii
|
Pseudohypoaldosteronism Type 2
|
|
Gordon Hyperkalemia-Hypertension Syndrome
|
Pseudohypoaldosteronism Type Ii
|
|
Chloride Shunt Syndrome
|
Hyperpotassemia And Hypertension Familial
|
|
Pha2
|
Familial Hyperpotassemia And Hypertension
|
|
Familial Hypertensive Hyperkalemia
|
Fhht
|
|
Hyperkalemia-Hypertension Syndrome, Gordon Type
|
Hypertensive Hyperkalemia
|
|
Mineralocorticoid Resistant Hyperkalemia
|
Spitzer-Weinstein Syndrome
|
|
Pseudohypoaldosteronism 2e
|
Pseudohypoaldosteronism, Type Ii
|
|
Pseudohypoaldosteronism, Type Iid
|
Hyperpotassemia And Hypertension, Familial
|
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
Fetal Akinesia Deformation Sequence
|
Fads
|
|
Fetal Akinesia Sequence
|
FADS1
|
|
Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome Type 1
|
|
Fetal Akinesia Deformation Sequence Syndrome
|
Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome
|
|
Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia
|
Pena-Shokeir Syndrome, Type I
|
|
Foetal Akinesia Deformation Sequence Syndrome
|
Foetal Akinesia Sequence
|
|
Fetal Akinesia Deformation Sequence Syndrome 1
|
Pena-Shokeir Syndrome, Type 1
|
|
Pena Shokeir Syndrome, Type 1
|
Akinesia, Fetal, Deformation Sequence
|
|
Akinesia, Fetal, Deformation Sequence, Type 1
|
Pena-Shokeir Syndrome Type I
|
|
|
| Exocrine Pancreatic Insufficiency |
|
|
| Scoliosis |
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
Lamellar Ichthyosis
|
Congenital Ichthyosiform Erythroderma
|
|
Li
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
|
Arci
|
Congenital Lamellar Ichthyosis
|
|
Nonbullous Congenital Ichthyosiform Erythroderma
|
Cie
|
|
Congenital Non-Bullous Ichthyosiform Erythroderma
|
Erythrodermic Ichthyosis
|
|
Nbcie
|
Ncie
|
|
Non-Bullous Congenital Ichthyosiform Erythroderma
|
Collodion Baby
|
|
Ichthyosis, Lamellar
|
Non Bullous Congenital Ichthyosiform Erythroderma
|
|
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form
|
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
|
|
Collodion Baby Syndrome
|
Ichthyoses, Lamellar
|
|
Nbie
|
Nonbullous Ichthyosiform Erythroderma
|
|
Classic Lamellar Ichthyosis
|
Ichthyosiform Erythroderma Nonbullous Congenital
|
|
Ichthyosiform Erythroderma Congenital
|
Ichthyosis, Congenital, Autosomal Recessive
|
|
Ichthyosiform Erythroderma, Congenital
|
Collodion Fetus
|
|
Non-Bullous Ichthyosiform Erythroderma
|
|
|
| Arthrogryposis, Distal, Type 2a |
|
Freeman-Sheldon Syndrome
|
Craniocarpotarsal Dystrophy
|
|
Craniocarpotarsal Dysplasia
|
DA2A
|
|
Whistling Face-Windmill Vane Hand Syndrome
|
Fss
|
|
Distal Arthrogryposis Type 2a
|
Whistling Face Syndrome
|
|
Freeman-Burian Syndrome
|
Arthrogryposis Distal Type 2a
|
|
Distal Arthrogryposis, Type 2a
|
Fbs
|
|
Arthrogryposis, Distal, 2a
|
|
|
| Hypotonia |
|
|
| Arthrogryposis, Distal, Type 5d |
|
Distal Arthrogryposis Type 5d
|
DA5D
|
|
Distal Arthrogryposis Type 5 Without Ophthalmoparesis
|
Distal Arthrogryposis Type 5 Without Ophthalmoplegia
|
|
Arthrogryposis, Distal, 5d
|
|
|
| Blepharophimosis |
|
|
| Arthrogryposis, Distal, Type 1a |
|
Distal Arthrogryposis Type 1
|
Digitotalar Dysmorphism
|
|
DA1A
|
Da1
|
|
Amcd1
|
Arthrogryposis, Distal, Type 2b4
|
|
Distal Arthrogryposis Type 1a
|
Arthrogryposis, Distal, Type 1
|
|
Arthrogryposis Multiplex Congenita Distal Type 1
|
Arthrogryposis Multiplex Congenita, Distal Type 1
|
|
Arthrogryposis Multiplex Congenita, Distal, Type I
|
Distal Arthrogryposis Type 1b
|
|
Arthrogryposis, Distal, 1a
|
Amc
|
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis, Distal, 2b4
|
|
DA2B4
|
Arthrogryposis Multiplex Congenita, Distal, Type 1
|
|
Arthrogryposis
|
|
|
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Dehydrated Hereditary Stomatocytosis
|
Hereditary Xerocytosis
|
|
Xerocytosis, Hereditary
|
Pshk1
|
|
Pseudohyperkalemia Edinburgh
|
Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
|
|
DHS1
|
Dhs
|
|
Hereditary Desiccytosis
|
Dehydrated Hereditary Stomatocytosis 1
|
|
Desiccytosis, Hereditary
|
Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak
|
|
Pseudohyperkalemia Familial 1, Due To Red Cell Leak
|
Desiccytosis Hereditary
|
|
Xerocytosis Hereditary
|
Familial Pseudohyperkalemia 1 Due To Red Cell Leak
|
|
Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema
|
Xerocytosis
|
|
|
| Arthrogryposis, Distal, Type 1b |
|
DA1B
|
Distal Arthrogryposis Type 1b
|
|
Arthrogryposis, Distal, 1b
|
|
|
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple Pterygium Syndrome
|
Pterygium
|
|
Escobar Syndrome
|
EVMPS
|
|
Pterygium Syndrome
|
Autosomal Recessive Multiple Pterygium Syndrome
|
|
Pterygium Colli Syndrome
|
Pterygium Universale
|
|
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
|
Escobar Variant Multiple Pterygium Syndrome
|
|
Multiple Pterygium Syndrome, Nonlethal Type
|
Surfer'S Eye
|
|
Multiple Pterygium Syndrome Escobar Type
|
Multiple Pterygium Syndrome Nonlethal Type
|
|
Familial Pterygium Syndrome
|
Pterygium Colli
|
|
Multiple Pterygium Syndrome, Non-Lethal Type
|
Nonlethal Type Multiple Pterygium Syndrome
|
|
Pterygium Syndrome, Multiple, Escobar Type
|
Pterygium Of Eye
|
|
Web Eye
|
|
|
| Photokeratitis |
|
|
| Arthrogryposis, Distal, Type 2b3 |
|
DA2B3
|
Distal Arthrogryposis Type 2b3
|
|
Arthrogryposis, Distal, 2b3
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Ehlers-Danlos Syndrome |
|
Eds
|
Cutis Hyperelastica
|
|
Elastic Skin
|
Ehlers-Danlos Syndromes
|
|
Ed Syndrome
|
Ehlers Danlos Syndrome
|
|
Ehlers Danlos Disease
|
Eds - [Ehlers-Danlos Syndrome]
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
