| 疾病名称 |
别名 |
|
| Acrocapitofemoral Dysplasia |
|
ACFD
|
Dysplasia, Acrocapitofemoral
|
|
|
| Brachydactyly, Type A1 |
|
Brachydactyly Type A1
|
BDA1
|
|
Farabee-Type Brachydactyly
|
Farabee Type Brachydactyly
|
|
Brachydactyly Farabee Type
|
Brachydactyly, Farabee Type
|
|
Brachydactyly A1
|
Brachydactyly
|
|
|
| Brachydactyly |
|
|
| Acrocallosal Syndrome |
|
ACLS
|
Schinzel Acrocallosal Syndrome
|
|
Joubert Syndrome 12
|
Schinzel Syndrome 1
|
|
Acrocallosal Syndrome, Schinzel Type
|
Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
|
|
Acs
|
Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly
|
|
Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum
|
JBTS12
|
|
Acrocallosal Syndrome
|
|
|
|
| Hirschsprung Disease 1 |
|
Hirschsprung Disease
|
Aganglionic Megacolon
|
|
Hscr
|
Hirschsprung'S Disease
|
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
|
Mgc
|
Pelvirectal Achalasia
|
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
|
Macrocolon
|
Hscr 1
|
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
|
Hirschsprung Megacolon
|
|
|
| Brachydactyly, Type A1, D |
|
Brachydactyly Type A1d
|
BDA1D
|
|
Brachydactyly A1, D
|
|
|
| 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
|
|
|
| Brachydactyly, Type A4 |
|
Brachymesophalangy Ii And V
|
Temtamy Type Brachydactyly
|
|
Brachydactyly Type A4
|
BDA4
|
|
Brachymesophalangy 2 And 5
|
Brachydactyly Temtamy Type
|
|
Brachydactyly, Temtamy Type
|
|
|
| Metachondromatosis |
|
|
| Pancreas, Annular |
|
Annular Pancreas
|
Pancreas Annulare
|
|
Congenital Annular Pancreas
|
|
|
| Enchondromatosis, Multiple, Ollier Type |
|
Ollier Disease
|
Enchondromatosis
|
|
Dyschondroplasia
|
Osteochondromatosis
|
|
Multiple Cartilaginous Enchondroses
|
Multiple Enchondromatosis
|
|
Enchondromatosis With Haemangiomata
|
Enchondromatosis, Multiple
|
|
Kast'S Syndrome
|
Ollier'S Syndrome
|
|
Enchondromatosis Multiple
|
ENCHOM
|
|
Maffucci Disease
|
Olliers Disease
|
|
Hereditary Multiple Exostoses
|
Chondromatosis
|
|
|
| Exostosis |
|
Osteophyte
|
Exostoses
|
|
Orbital Exostosis
|
Exostosis Of Orbit
|
|
Bone Spur
|
Bony Outgrowth
|
|
Swimmer'S Exostosis
|
Osteophytes
|
|
External Exotoses
|
Cartilaginous Exostosis
|
|
|
| Sugarman Brachydactyly |
|
Brachydactyly With Major Proximal Phalangeal Shortening
|
Brachydactyly Of The Hands And Feet With Duplication Of The First Toes
|
|
Sugarman-Hager-Kulik Syndrome
|
Orofaciodigital Syndrome 3
|
|
|
| Hereditary Multiple Exostoses |
|
Multiple Congenital Exostosis
|
Hereditary Multiple Exostoses 1
|
|
Hereditary Multiple Exostoses 2
|
Hereditary Multiple Exostoses 3
|
|
Multiple Exostosis Syndromes
|
Multiple Ostechondromas
|
|
Osteochondromatosis Syndrome
|
Exostoses Multiple Hereditary
|
|
Exostoses, Multiple Hereditary
|
|
|
| Chronic Tympanitis |
|
|
| Basal Cell Nevus Syndrome |
|
Nevoid Basal Cell Carcinoma Syndrome
|
Gorlin Syndrome
|
|
Nbccs
|
BCNS
|
|
Gorlin-Goltz Syndrome
|
Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
|
|
Cerebral Gigantism Jaw Cysts
|
Cramer Niederdellmann Syndrome
|
|
Gorlin Syndrome Or Gorlin-Goltz Syndrome
|
Naevoid Basal Cell Carcinoma Syndrome
|
|
|
| Hypochondroplasia |
|
HCH
|
Hypochondrodysplasia
|
|
Chondrogenesis Imperfecta
|
Hypochondroplastic Dwarfism
|
|
Hypochondroplastic Short Stature
|
|
|
| Bone Development Disease |
|
|
| Craniosynostosis |
|
Premature Closure Of Cranial Sutures
|
Craniostenosis
|
|
Craniosynostosis Syndrome
|
Cso
|
|
Craniosynostoses
|
Congenital Ossification Of Cranial Sutures
|
|
Congenital Ossification Of Sutures Of Skull
|
Craniostosis
|
|
Imperfect Fusion Of Skull
|
Congenital Imperfect Closure Skull
|
|
Imperfect Closure Skull
|
Premature Closure Cranium Sutures
|
|
Deficiency Of Craniofacial Axis
|
|
|
| Thanatophoric Dysplasia, Type I |
|
Thanatophoric Dysplasia
|
Thanatophoric Dwarfism
|
|
Thanatophoric Dysplasia Type 1
|
TD1
|
|
Td
|
Thanatophoric Short Stature
|
|
Thanatophoric Dwarfism Type 1
|
Thanatophoric Dysplasia Type I
|
|
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
|
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
|
|
Skeletal Dysplasia, San Diego Type
|
Plsd San Diego Type
|
|
Thanatophoric Dwarfism 1
|
Dwarfism Thanatophoric
|
|
Dwarf, Thanatophoric
|
Thanatophoric Dysplasia 1
|
|
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type
|
Platyspondylic Lethal Skeletal Dysplasia San Diego Type
|
|
Thanatophoric Dwarf
|
Thanatophoric Dwarfism Or Short Stature
|
|
Thanatophoric Dwarfism Syndrome
|
Td - [Thanatophoric Dwarfism]
|
|
|
| Basal Cell Carcinoma |
|
Basal Cell Cancer
|
Basal Cell Neoplasm
|
|
Basal Cell Carcinoma Of Skin
|
Malignant Basal Cell Tumor
|
|
Basal Cell Tumor
|
Epithelioma Basal Cell
|
|
Malignant Basal Cell Neoplasm
|
Rodent Ulcer
|
|
Carcinoma Basal Cell
|
Neoplasms, Basal Cell
|
|
Basal Cell Carcinomas
|
Experimental Organism Basal Cell Carcinoma
|
|
Nodulo-Ulcerative Basal Cell Carcinoma
|
Basalioma
|
|
Basal Cell Epithelioma Of Skin
|
Bcc - [Basal Cell Carcinoma] Of Skin
|
|
Rodent Ulcer Of Skin
|
Rodent Ulcer Of Unspecified Site
|
|
Basal Cell Epithelioma Of Unspecified Site
|
|
|
| Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
Catshl Syndrome
|
Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome
|
|
|
| Multiple Enchondromatosis, Maffucci Type |
|
Maffucci Syndrome
|
Chondrodysplasia With Hemangioma
|
|
Chondroplasia Angiomatosis
|
Enchondromatosis With Hemangiomata
|
|
Hemangiomatosis Chondrodystrophica
|
Kast Syndrome
|
|
Multiple Angiomas And Endochondromas
|
Dyschondrodysplasia With Hemangiomas
|
|
Enchondromatosis Type Ii
|
Enchondromatosis With Multiple Cavernous Hemangiomas
|
|
Dyschondroplasia And Cavernous Hemangioma
|
Hemangiomata With Dyschondroplasia
|
|
|
| Greig Cephalopolysyndactyly Syndrome |
|
GCPS
|
Polysyndactyly With Peculiar Skull Shape
|
|
Polysyndactyly With Peculiars Skull Shape
|
Greig Syndrome
|
|
Cephalopolysyndactyly Syndrome
|
Greig Cephalo-Poly-Syndactyly Syndrome
|
|
Cephalopolysyndactyly, Greig Syndrome
|
Aarskog Syndrome
|
|
|
| Culler-Jones Syndrome |
|
Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome
|
CJS
|
|
Pallister-Hall Syndrome 2, Formerly
|
Phs2, Formerly
|
|
Pallister-Hall Syndrome 2
|
Phs2
|
|
|
| Brachydactyly, Type A1, C |
|
Brachydactyly Type A1c
|
BDA1C
|
|
Brachydactyly A1, C
|
Brachydactyly A1c
|
|
Brachydactyly Type A1 C
|
|
|
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
SADDAN
|
Saddan Dysplasia
|
|
Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans
|
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
|
|
Ssb Syndrome
|
Skeleton Skin Brain Syndrome
|
|
Skeleton-Skin-Brain Syndrome
|
Achondroplasia
|
|
|
| Pallister-Hall Syndrome |
|
PHS
|
Hypothalamic Hamartomas
|
|
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly
|
Hypothalamic Hamartoblastoma Syndrome
|
|
Hamartoma Of The Hypothalamus
|
Pallister Hall Syndrome
|
|
Hall-Pallister Syndrome
|
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
|
|
Hamartoma, Hypothalamic
|
|
|
| Skin Carcinoma |
|
Skin Cancer
|
Carcinoma Of Skin
|
|
Ca - Skin Cancer
|
Cancer Of Skin
|
|
Malignant Neoplasm Of Skin
|
Melanoma And Non-Melanoma Skin Cancer
|
|
Skin Cancers
|
Cancer, Skin
|
|
|
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Spondyloepiphyseal Dysplasia
|
Chst3-Related Skeletal Dysplasia
|
|
Humerospinal Dysostosis
|
Spondyloepiphyseal Dysplasia, Omani Type
|
|
Chondrodysplasia With Multiple Dislocations
|
SEDCJD
|
|
Hsd
|
Cdmd
|
|
Humero-Spinal Dysostosis
|
Kozlowski Celermajer Tink Syndrome
|
|
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type
|
Larsen Syndrome, Recessive Type
|
|
Humero-Spinal Dysostosis With Congenital Heart Disease
|
Omani Type
|
|
Sed
|
Chst3 Deficiency
|
|
Chst3-Related Dysplasia
|
Recessive Larsen Syndrome
|
|
Autosomal Recessive Larsen Syndrome
|
Sed With Luxations, Chst3 Type
|
|
Sed, Omani Type
|
Sdcd, Chst3 Type
|
|
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type
|
Sed Omani Type
|
|
Spondyloepiphyseal Dysplasia Omani Type
|
Larsen Syndrome, Autosomal Recessive
|
|
Mucopolysaccharidosis Iv
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
|
| Brachydactyly, Type B1 |
|
Brachydactyly Type B1
|
Brachydactyly Type B
|
|
BDB1
|
Brachydactyly, Type B
|
|
Bdb
|
Brachydactyly B1
|
|
|
| Acromesomelic Dysplasia |
|
Acromesomelic Dwarfism
|
Dysplasia, Acromesomelic
|
|
Acromesomelic Dysplasia Hunter-Thompson Type
|
|
|
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Persistent Hyperinsulinemic Hypoglycemia Of Infancy
|
Phhi
|
|
Familial Hyperinsulinism
|
Congenital Hyperinsulinism
|
|
HHF2
|
Nesidioblastosis
|
|
Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia
|
Familial Hyperinsulinemic Hypoglycemia 2
|
|
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency
|
Chi
|
|
Congenital Isolated Hyperinsulinism
|
Hyperinsulinemic Hypoglycemia, Persistent
|
|
Hyperinsulinism, Neonatal
|
Hyperinsulinism, Congenital
|
|
Hyperinsulinism, Familial
|
Hyperinsulinemic Hypoglycemia Familial
|
|
Hyperinsulinism Congenital
|
Hyperinsulinism Familial With Pancreatic Nesidioblastosis
|
|
Hypoglycemia Hyperinsulinemic Of Infancy
|
Nesidioblastosis Of Pancreas
|
|
Hyperinsulinemic Hypoglycemia Familial 2
|
Hyperinsulinemia Hypoglycemia Of Infancy
|
|
Infancy Hyperinsulinemia Hypoglycemia
|
Neonatal Hyperinsulinism
|
|
Persistent Hyperinsulinemia Hypoglycemia Of Infancy
|
Persistent Hyperinsulinemic Hypoglycemia
|
|
Phhi Hypoglycemia
|
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
|
|
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency
|
Dominant Katp Hyperinsulinism Due To Kir6.2 Deficiency
|
|
Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency
|
Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency, Diazoxide-Resistant Focal Form
|
|
Fhi
|
Familial Hyperinsulinemic Hypoglycemia
|
|
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
|
Hypoglycemia, Hyperinsulinemic, Familial, Type 2
|
|
Hi-C
|
|
|
| Cartilage Disease |
|
Cartilage Diseases
|
Cartilage
|
|
Cartilage Disorder
|
Chondropathy
|
|
Cartilage Disorders
|
|
|
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Spondylometaphyseal Dysplasia
|
Strudwick Syndrome
|
|
Dappled Metaphysis Syndrome
|
Semd, Strudwick Type
|
|
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
|
Smed, Strudwick Type
|
|
Smd
|
Smed Strudwick Type
|
|
SEMDSTWK
|
Smed, Type I
|
|
Semdc
|
Smed Type 1
|
|
Spondyloepimetaphyseal Dysplasia Strudwick Type
|
Sed Strudwick
|
|
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
|
Smed Type I
|
|
Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses
|
Dysplasia, Spondyloepimetaphyseal, Strudwick Type
|
|
Dysplasia, Spondylometaphyseal
|
|
|
| Osteochondrosis |
|
Osteochondritis
|
Apophysitis
|
|
Epiphysitis
|
Osteochondritis Juvenilis
|
|
Epiphyseal Necrosis
|
Juvenile Osteochondrosis Of Tibial Tubercle
|
|
|
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Asphyxiating Thoracic Dystrophy 3
|
Saldino-Noonan Syndrome
|
|
SRTD3
|
Atd3
|
|
Srps1
|
Srps3
|
|
Verma-Naumoff Syndrome
|
Srps2b
|
|
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
|
Short Rib-Polydactyly Syndrome, Type I
|
|
Polydactyly With Neonatal Chondrodystrophy, Type I
|
Polydactyly With Neonatal Chondrodystrophy, Type Iii
|
|
Short Rib-Polydactyly Syndrome, Type Iib
|
Short Rib-Polydactyly Syndrome Type 3
|
|
Polydactyly With Neonatal Chondrodystrophy Type Iii
|
Short Rib-Polydactyly Syndrome Type Iii
|
|
Short Rib-Polydactyly Syndrome Type 1
|
Short Rib-Polydactyly Syndrome, Saldino-Noonan Type
|
|
Majewski Syndrome
|
Short Rib-Polydactyly Syndrome, Type Iii
|
|
Type I Short Rib Polydactyly Syndrome
|
Srps Type 3
|
|
Short Rib Polydactyly Syndrome Verma Naumoff Type
|
Verma Naumoff Syndrome
|
|
Polydactyly With Neonatal Chondrodystrophy Type 1
|
Srps Type 1
|
|
Short Rib-Polydactyly Syndrome Saldino-Noonan Type
|
Jatd
|
|
Jeune Asphyxiating Thoracic Dystrophy
|
Jeune Syndrome 3
|
|
Polydactyly With Neonatal Chondrodystrophy Type I
|
Short Rib-Polydactyly Syndrome Type I
|
|
Short Rib-Polydactyly Syndrome Type Iib
|
Srps Type Iib
|
|
Srps Type Iii
|
|
|
| Brachydactyly, Type A2 |
|
Brachydactyly Type A2
|
BDA2
|
|
Mohr-Wriedt Type Brachydactyly
|
Brachymesophalangy Ii
|
|
Brachymesophalangy Type 2
|
Brachymesophalangy 2
|
|
Brachydactyly, Mohr-Wriedt Type
|
Brachydactyly A2
|
|
|
| Apert Syndrome |
|
Acrocephalosyndactyly Type I
|
Acs1
|
|
Acrocephalosyndactylia
|
Acrocephalosyndactyly
|
|
Acs I
|
Apert-Crouzon Disease
|
|
Acrocephalosyndactyly Type 1
|
Acrocephalosyndactyly, Type I
|
|
Acs 1
|
Acrocephalo-Syndactyly Type 1
|
|
Syndactylic Oxycephaly
|
Apert'S Syndrome
|
|
Type I Acrocephalosyndactyly
|
APRS
|
|
|
| Ellis-Van Creveld Syndrome |
|
Chondroectodermal Dysplasia
|
Mesoectodermal Dysplasia
|
|
EVC
|
Ellis Van Creveld Syndrome
|
|
Mesodermic Dysplasia
|
Ellis-Van Creveld Dysplasia
|
|
|
| Leri-Weill Dyschondrosteosis |
|
LWD
|
Dyschondrosteosis
|
|
Dco
|
Léri-Weill Dyschondrosteosis
|
|
Leri Weill Dyschondrosteosis
|
Leri-Weill Syndrome
|
|
Leri-Weil Syndrome
|
Dyschondrosteosis, Leri-Weill
|
|
|
| Dysostosis |
|
|
| Campomelic Dysplasia |
|
Acampomelic Campomelic Dysplasia
|
Camptomelic Dysplasia
|
|
Campomelic Dysplasia With Autosomal Sex Reversal
|
Cmpd
|
|
CMD1
|
Cmpd1
|
|
Cmpd1/Sra1
|
Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
|
|
Campomelic Dwarfism
|
Campomelic Syndrome
|
|
Dysplasia, Campomelic
|
Chronic Myeloproliferative Disorder
|
|
Familial Dilated Cardiomyopathy
|
|
|
| Cleidocranial Dysplasia |
|
Cleidocranial Dysostosis
|
CLCD
|
|
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
|
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
|
|
CCD
|
Marie-Sainton Disease
|
|
Dysplasia Cleidocranial
|
Dento-Osseous Dysplasia
|
|
Marie-Sainton Syndrome
|
Dysplasia, Cleidocranial
|
|
|
| Synostosis |
|
|
| Laurin-Sandrow Syndrome |
|
Sandrow Syndrome
|
Tetramelic Mirror-Image Polydactyly
|
|
Mirror-Image Polydactyly
|
Mirror Hands And Feet With Nasal Defects
|
|
Tmip
|
LSS
|
|
Mip
|
Mirror Hands And Feets-Nasal Defects Syndrome
|
|
Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius
|
Miccor Hands And Feet With Nasal Defects
|
|
Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius
|
Fibula Ulna Duplication Tibia Radius Absence
|
|
Laurin Sandrow Syndrome
|
Duplication Of Fibula And Ulna With Absence Of Tibia And Radius
|
|
Segmental Laurin-Sandrow Syndrome
|
Laurin-Sandrow Syndrome, Segmental
|
|
|
| Infratentorial Cancer |
|
Infratentorial Neoplasms
|
Brain Neoplasm, Infratentorial
|
|
Malignant Infratentorial Tumors
|
|
|
| Joubert Syndrome 32 |
|
|
| Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis |
|
ECTD14
|
Ectodermal Dysplasia 14
|
|
Ectn14
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Giant Axonal Neuropathy
|
Giant Axonal Neuropathy 1
|
|
Gan
|
GAN1
|
|
Giant Axonal Neuropathy-1
|
Neuropathy, Giant Axonal
|
|
Giant Axonal Disease
|
Neuropathy, Axonal, Giant, Type 1
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Crouzon Syndrome |
|
Crouzon Craniofacial Dysostosis
|
Craniofacial Dysostosis
|
|
Cfd1
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Craniofacial Dysostosis Type 1
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Crouzon Disease
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Crouzon'S Disease
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Craniofacial Dysostosis, Type I
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Craniofacial Dysarthrosis
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Craniofacial Dysostosis Syndrome
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CS
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Craniofacial Dysostosis Type I
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Vogt Cephalosyndactyly
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| Holoprosencephaly |
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Holoprosencephaly Sequence
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Hpe
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Hpe - [Holoprosencephaly]
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| Autism Spectrum Disorder |
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Asd
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Autism Spectrum Disorders
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Autistic Continuum
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Pervasive Developmental Disorder
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Pervasive Development Disorder
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Autistic Behavior
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Autistic Disorder
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Autistic
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Autistic Disorder Of Childhood Onset
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Infantile Autism
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Childhood Autism
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Kanner Syndrome
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Pervasive Developmental Delay Nos
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Pervasive Developmental Disorder, Not Otherwise Specified
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| Kallmann Syndrome |
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Hypogonadism With Anosmia
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Kallman'S Syndrome
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Anosmic Hypogonadism
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Anosmic Idiopathic Hypogonadotropic Hypogonadism
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Hypogonadotropic Hypogonadism And Anosmia
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Hypogonadotropic Hypogonadism-Anosmia Syndrome
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Olfacto-Genital Pathological Sequence
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Familial Hypogonadism With Anosmia
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Kallman Syndrome
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Dysplasia Olfactogenitalis Of De Morsier
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Kallmann'S Syndrome
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Congenital Hypogonadotropic Hypogonadism With Anosmia
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| Orofacial Cleft |
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| Brittle Bone Disorder |
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Osteogenesis Imperfecta
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Brittle Bone Disease
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Fragilitas Ossium
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Osteopsathyrosis
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Lobstein Disease
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Oi
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Vrolik Disease
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Lobstein'S Disease
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Lobstein'S Syndrome
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Vrolik'S Disease
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Porak And Durante Disease
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Glass Bone Disease
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Osteogenesis Imperfecta, Dominant Perinatal Lethal
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Osteogenesis Imperfecta, Recessive Perinatal Lethal
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Brittle Bone Syndrome
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Oi - [Osteogenesis Imperfecta]
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Ossium Fragility
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Osteitis Fragilitans
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Bony Fragility
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Blue Sclera With Fragility Of Bone And Deafness
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White Blue Sclera - Fragility Of Bone - Deafness
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| Asphyxiating Thoracic Dystrophy |
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Jeune Thoracic Dystrophy
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Jeune Syndrome
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Asphyxiating Thoracic Dysplasia
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Short-Rib Thoracic Dysplasia With Or Without Polydactyly
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Thoracic Pelvic Phalangeal Dystrophy
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Asphyxiating Thoracic Chondrodystrophy
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Atd
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Chondroectodermal Dysplasia-Like Syndrome
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Infantile Thoracic Dystrophy
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Jeune Thoracic Dysplasia
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Thoracic Asphyxiant Dystrophy
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Thoracic-Pelvic-Phalangeal Dystrophy
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Short-Rib Thoracic Dysplasia Without Polydactyly
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Asphyxiating Thoracic Dystrophy Of The Newborn
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Asphyxiating Thorax Dystrophy
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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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