| 疾病名称 |
别名 |
|
| Popliteal Pterygium Syndrome |
|
PPS
|
Faciogenitopopliteal Syndrome
|
|
Facio-Genito-Popliteal Syndrome
|
Popliteal Web Syndrome
|
|
Autosomal Dominant Popliteal Pterygium Syndrome
|
Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies
|
|
Popliteal Pterygium Syndrome 1
|
Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies
|
|
Popliteal Pterygium
|
|
|
| Orofacial Cleft 6 |
|
Orofacial Cleft 6, Susceptibility To
|
OFC6
|
|
Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 6
|
Non-Syndromic Orofacial Cleft 6
|
|
Non-Syndromic Cleft Lip/Palate 6
|
Non-Syndromic Cleft Lip With Or Without Cleft Palate 6
|
|
Orofacial Cleft, Type 6
|
|
|
| Van Der Woude Syndrome 1 |
|
Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip
|
VWS1
|
|
Vdws
|
Lip-Pit Syndrome
|
|
Lps
|
Pit
|
|
Lip Pit
|
Van Der Woude Syndrome
|
|
|
| Van Der Woude Syndrome |
|
Lip-Pit Syndrome
|
Vws
|
|
Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip
|
Vdws
|
|
Lps
|
Lip Pit Syndrome
|
|
Cleft Lip/Palate With Mucous Cysts Of Lower Lip
|
Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Tooth Agenesis |
|
Oligodontia
|
Hypodontia
|
|
Selective Tooth Agenesis
|
Tooth Agenesis, Selective
|
|
Familial Tooth Agenesis
|
Anodontia
|
|
Congenital Absence Of One Tooth
|
|
|
| Isolated Cleft Lip |
|
|
| Cleft Lip And Alveolus |
|
|
| Cleft Lip/Palate |
|
Cleft Lip And Palate
|
Alveolar Cleft Lip And Palate
|
|
Cleft Lip-Alveolus-Palate Syndrome
|
Flp
|
|
|
| Cleft Lip |
|
Cheiloschisis
|
Labium Leporinum
|
|
Cleft Lip, Unilateral, Complete
|
Complete Unilateral Cleft Lip
|
|
Hare Lip
|
Congenital Fissure Of Lip
|
|
Isolated Cleft Lip
|
Cleft Lip Without Cleft Palate
|
|
Cleft Lip Without Cleft Palate, Unilateral
|
Isolated Cleft Lip, Unilateral
|
|
Cleft Lip Without Cleft Palate, Bilateral
|
Isolated Cleft Lip, Bilateral
|
|
|
| Syngnathia |
|
Cleft Palate-Lateral Synechia Syndrome
|
Cpls Syndrome
|
|
Cleft Palate Lateral Synechia Syndrome
|
|
|
| Orofacial Cleft |
|
|
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia
|
ANKG
|
|
'Tongue-Tie'
|
Tongue-Tie
|
|
Tongue Tie
|
Aberrant Insertion Of Labial Frenulum
|
|
Aberrant Insertion Of Frenum Of Tongue
|
Short Frenulum Linguae
|
|
Short Frenulum Of Tongue
|
|
|
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hay-Wells Syndrome
|
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
|
|
Aec Syndrome
|
AEC
|
|
Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome
|
Seres-Santamaria Arimany Muniz Syndrome
|
|
Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects
|
Ankyloblepharon Ectodermal Defects Cleft Lip/Palate
|
|
Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate
|
Rapp-Hodgkin Syndrome
|
|
|
| Branchiooculofacial Syndrome |
|
Branchio-Oculo-Facial Syndrome
|
BOFS
|
|
Bof Syndrome
|
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
|
|
Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
|
Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
|
|
Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging
|
Bofs Syndrome
|
|
Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
|
|
|
| Fetal Encasement Syndrome |
|
Cocoon Syndrome
|
COCOS
|
|
Fetal Diseases
|
|
|
| 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
|
|
|
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Orofacial Cleft 7
|
Zlotogora-Ogur Syndrome
|
|
CLPED1
|
Ectodermal Dysplasia, Margarita Island Type
|
|
Ed4
|
Cleft Lip-Palate-Ectodermal Dysplasia Syndrome
|
|
Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome
|
Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate
|
|
Ectodermal Dysplasia 4
|
Ectodermal Dysplasia Margarita Type
|
|
Ectodermal Dysplasia, Type 4
|
Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly
|
|
Margarita Type Of Ectodermal Dysplasia
|
Zlotogora-Zilberman-Tenenbaum Syndrome
|
|
Ectd4
|
Ectodermal Dysplasia 4, Hair/Nail Type
|
|
EDMI
|
Ectodermal Dysplasia Type 4
|
|
Margarita Island Ectodermal Dysplasia
|
Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate
|
|
Non-Syndromic Orofacial Cleft 7
|
OFC7
|
|
Non-Syndromic Cleft Lip/Palate 7
|
Non-Syndromic Cleft Lip With Or Without Cleft Palate 7
|
|
|
| Fraser Syndrome 1 |
|
Fraser Syndrome
|
Cryptophthalmos With Other Malformations
|
|
Cryptophthalmos Syndrome
|
FRASRS1
|
|
Cryptophthalmos-Syndactyly Syndrome
|
Fraser-Francois Syndrome
|
|
Cyclopism
|
Meyer-Schwickerath'S Syndrome
|
|
Ulrich-Feichtiger Syndrome
|
Cryptophthalmos Syndactyly Syndrome
|
|
Fraser'S Syndrome
|
Meyer-Schwickerath Syndrome
|
|
Ullrich-Feichtiger Syndrome
|
|
|
| Talipes Equinovarus |
|
Congenital Equinovarus
|
Congenital Talipes Equinovarus
|
|
Equinovarus
|
Congenital Varus Clubfoot
|
|
|
| Treacher Collins Syndrome 1 |
|
Treacher Collins Syndrome
|
Mandibulofacial Dysostosis
|
|
Treacher Collins-Franceschetti Syndrome
|
Tcof
|
|
Tcs
|
Mfd1
|
|
Franceschetti-Klein Syndrome
|
TCS1
|
|
Franceschetti Syndrome
|
Franceschetti-Zwahlen-Klein Syndrome
|
|
Zygoauromandibular Dysplasia
|
Treacher-Collins Syndrome
|
|
Mandibulofacial Dysostosis Without Limb Anomalies
|
Bilateral And Symmetric Oto-Mandibular Dysplasia
|
|
|
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
Bamforth-Lazarus Syndrome
|
Bamforth Syndrome
|
|
Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
|
Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
|
|
Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome
|
Hypothyroidism-Cleft Palate Syndrome
|
|
BLS
|
Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate
|
|
|
| Cleft Soft Palate |
|
Cleft Velum
|
Cleft Velum Palatinum
|
|
Soft Cleft Palate
|
Soft Palate Perforation
|
|
|
| Lymphoid Interstitial Pneumonia |
|
Lymphocytic Interstitial Pneumonia
|
Lip Disease
|
|
Lip Diseases
|
LIP
|
|
Disease Of Lips
|
|
|
| Physical Disorder |
|
|
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Eec Syndrome
|
Rudiger Syndrome 1
|
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1
|
EEC1
|
|
Eec Syndrome 1
|
Eec Syndrome-1
|
|
Walker-Clodius Syndrome
|
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
|
|
Eec
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome
|
|
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
|
Ectrodactyly-Cleft Lip/Palate Syndrome
|
|
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate
|
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
|
|
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
|
Ectrodactyly-Cleft Lip-Palate Syndrome
|
|
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
|
|
|
| Fissured Tongue |
|
Furrowed Tongue
|
Plicated Tongue
|
|
Tongue, Fissured
|
Congenital Fissure Of Tongue
|
|
Congenital Plicated Tongue
|
Fissure Of Tongue
|
|
Fissure Of Tongue, Congenital
|
Geographic Tongue And Fissured Tongue
|
|
Lingua Plicata
|
Scrotal Tongue
|
|
|
| Acrofacial Dysostosis 1, Nager Type |
|
Nager Syndrome
|
Nager Acrofacial Dysostosis
|
|
AFD1
|
Preaxial Acrofacial Dysostosis
|
|
Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies
|
Afd, Nager Type
|
|
Nager Acrofacial Dysostosis Syndrome
|
Nafd
|
|
Acrofacial Dysostosis, Nager Type
|
Afd
|
|
Preaxial Manibulofacial Dysostosis
|
Split Hand Deformity-Mandibulofacial Dysostosis
|
|
Preaxial Mandibulofacial Dysostosis
|
Mandibulofacial Dysostosis With Preaxial Limb Anomalies
|
|
Preaxial Acrodysostosis
|
Afd Nager Type
|
|
Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
|
|
|
| Stickler Syndrome |
|
Arthroophthalmopathy
|
Hereditary Arthro-Ophthalmo-Dystrophy
|
|
Hereditary Arthro-Ophthalmopathy
|
Stickler Dysplasia
|
|
Hereditary Progressive Arthroophthalmopathy
|
Stickler Syndrome, Type 1
|
|
|
| Glass Syndrome |
|
Chromosome 2q32-Q33 Deletion Syndrome
|
Satb2-Associated Syndrome
|
|
2q33.1 Microdeletion Syndrome
|
Sas
|
|
2q32-Q33 Microdeletion Syndrome
|
2q32q33 Microdeletion Syndrome
|
|
Monosomy 2q32
|
Monosomy 2q32-Q33
|
|
Monosomy 2q32q33
|
2q32 Deletion Syndrome
|
|
Del(2)(Q32)
|
Del(2)(Q32q33)
|
|
GLASS
|
2q32q33 Microdeletion Syndromes
|
|
Satb2 Syndrome
|
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
|
|
Del(2)(Q33.1)
|
Monosomy 2q33.1
|
|
Satb2-Associated Syndrome Due To A Pathogenic Variant
|
Satb2-Associated Syndrome Due To A Point Mutation
|
|
Satb2 Associated Disorder
|
|
|
| Kabuki Syndrome 1 |
|
Kabuki Syndrome
|
Niikawa-Kuroki Syndrome
|
|
Kabuki Make-Up Syndrome
|
Kms
|
|
KABUK1
|
Kabuki Make Up Syndrome
|
|
Nks
|
Kabuki Makeup Syndrome
|
|
Kabuki Syndrome, Type 1
|
|
|
| Focal Segmental Glomerulosclerosis |
|
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome
|
Focal Glomerulosclerosis
|
|
Fsgs
|
Segmental Glomerulosclerosis
|
|
Glomerulosclerosis, Focal Segmental
|
Fgs
|
|
Focal Glomerular Sclerosis
|
Familial Idiopathic Nephrotic Syndrome
|
|
Focal Sclerosis With Hyalinosis
|
Glomerulosclerosis, Focal
|
|
Glomerulosclerosis Focal
|
Glomerulosclerosis, Segmental, Focal
|
|
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
