| Disease Name |
Symbol |
Acronym |
| B- and T-Cell Mixed Leukemia
|
BND002
|
|
| B Cell Deficiency
|
BCL002
|
|
| B Cell Prolymphocytic Leukemia
|
BCL005
|
B-PLL
|
| B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
|
B4G002
|
|
| Baastrup's Syndrome
|
BST002
|
|
| Babesiosis
|
BBS001
|
|
| Baby Rattle Pelvic Dysplasia
|
BBY001
|
|
| Baby Rattle Pelvis Dysplasia
|
BBY002
|
|
| Bacillary Angiomatosis
|
BCL011
|
|
| Back Pain
|
BCK006
|
|
| Background Diabetic Retinopathy
|
BCK003
|
|
| Bacteremia 1
|
BCT019
|
BACTS1
|
| Bacteremia 2
|
BCT020
|
BACTS2
|
| Bacterial Conjunctivitis
|
BCT006
|
|
| Bacterial Esophagitis
|
BCT001
|
|
| Bacterial Exanthem
|
BCT003
|
|
| Bacterial Gastritis
|
BCT005
|
|
| Bacterial Infectious Disease
|
BCT022
|
|
| Bacterial Meningitis
|
BCT007
|
|
| Bacterial Myositis
|
BCT018
|
|
| Bacterial Pneumonia
|
BCT013
|
|
| Bacterial Sepsis
|
BCT021
|
|
| Bacterial Vaginosis
|
BCT002
|
|
| Bacteriuria
|
BCT004
|
|
| Baculum, Congenital Absence of
|
BCL015
|
|
| Baetz-Greenwalt Syndrome
|
BTZ001
|
|
| Bagassosis
|
BGS001
|
|
| Bagatelle Cassidy Syndrome
|
BGT001
|
|
| Bain Type of X-Linked Syndromic Intellectual Disability
|
BNT006
|
|
| Bainbridge-Ropers Syndrome
|
BNB002
|
BRPS
|
| Baker Vinters Syndrome
|
BKR001
|
|
| Baker-Gordon Syndrome
|
BKR002
|
BAGOS
|
| Balanitis
|
BLN010
|
|
| Balanitis Xerotica Obliterans
|
BLN002
|
|
| Balanoposthitis
|
BLN009
|
|
| Balantidiasis
|
BLN004
|
|
| Balint Syndrome
|
BLN017
|
|
| Balkan Hemorrhagic Fever
|
BLK002
|
|
| Baller-Gerold Syndrome
|
BLL001
|
BGS
|
| Balloon Cell Malignant Melanoma
|
BLL002
|
|
| Balo Concentric Sclerosis
|
BLC015
|
|
| Bamforth Syndrome
|
BMF002
|
|
| Band Heterotopia
|
BND018
|
BH
|
| Bangstad Syndrome
|
BNG086
|
|
| Banki Syndrome
|
BNK001
|
|
| Banti's Syndrome
|
BNT001
|
|
| Bap1 Tumor Predisposition Syndrome
|
BP1002
|
|
| Baraitser Rodeck Garner Syndrome
|
BRT020
|
|
| Baraitser-Winter Cerebrofrontofacial Syndrome
|
BRT046
|
|
| Baraitser-Winter Syndrome
|
BRT040
|
BRWS
|
| Baraitser-Winter Syndrome 1
|
BRT038
|
BRWS1
|
| Baraitser-Winter Syndrome 2
|
BRT039
|
BRWS2
|
| Barber-Say Syndrome
|
BRB006
|
BBRSAY
|
| Barbiturate Abuse
|
BRB003
|
|
| Barbiturate Dependence
|
BRB002
|
|
| Bardet-Biedl Syndrome
|
BRD002
|
BBS
|
| Bardet-Biedl Syndrome 1
|
BRD010
|
BBS1
|
| Bardet-Biedl Syndrome 10
|
BRD011
|
BBS10
|
| Bardet-Biedl Syndrome 11
|
BRD012
|
BBS11
|
| Bardet-Biedl Syndrome 12
|
BRD013
|
BBS12
|
| Bardet-Biedl Syndrome 13
|
BRD033
|
BBS13
|
| Bardet-Biedl Syndrome 14
|
BRD032
|
BBS14
|
| Bardet-Biedl Syndrome 15
|
BRD035
|
BBS15
|
| Bardet-Biedl Syndrome 16
|
BRD047
|
BBS16
|
| Bardet-Biedl Syndrome 17
|
BRD044
|
BBS17
|
| Bardet-Biedl Syndrome 18
|
BRD048
|
BBS18
|
| Bardet-Biedl Syndrome 19
|
BRD045
|
BBS19
|
| Bardet-Biedl Syndrome 2
|
BRD014
|
BBS2
|
| Bardet-Biedl Syndrome 20
|
BRD051
|
BBS20
|
| Bardet-Biedl Syndrome 21
|
BRD050
|
BBS21
|
| Bardet-Biedl Syndrome 3
|
BRD015
|
BBS3
|
| Bardet-Biedl Syndrome 4
|
BRD016
|
BBS4
|
| Bardet-Biedl Syndrome 5
|
BRD017
|
BBS5
|
| Bardet-Biedl Syndrome 6
|
BRD018
|
BBS6
|
| Bardet-Biedl Syndrome 7
|
BRD019
|
BBS7
|
| Bardet-Biedl Syndrome 8
|
BRD020
|
BBS8
|
| Bardet-Biedl Syndrome 9
|
BRD021
|
BBS9
|
| Bare Lymphocyte Syndrome, Type I
|
BRL011
|
BLS1
|
| Bare Lymphocyte Syndrome, Type Ii
|
BRL012
|
BLS2
|
| Baritosis
|
BRT013
|
|
| Barmah Forest Virus Disease
|
BRM001
|
|
| Barnicoat Baraitser Syndrome
|
BRN047
|
|
| Baroreflex Failure
|
BRR004
|
|
| Barre-Lieou Syndrome
|
BRR001
|
|
| Barrett Esophagus
|
BRR014
|
BE
|
| Barrett's Adenocarcinoma
|
BRR002
|
|
| Barth Syndrome
|
BRT005
|
BTHS
|
| Bartholin's Duct Cyst
|
BRT014
|
|
| Bartholin's Gland Adenocarcinoma
|
BRT015
|
|
| Bartholin's Gland Adenoid Cystic Carcinoma
|
BRT008
|
|
| Bartholin's Gland Adenoma
|
BRT012
|
|
| Bartholin's Gland Adenomyoma
|
BRT009
|
|
| Bartholin's Gland Adenosquamous Carcinoma
|
BRT006
|
|
| Bartholin's Gland Benign Neoplasm
|
BRT045
|
|
| Bartholin's Gland Carcinoma
|
BRT016
|
|
| Bartholin's Gland Disease
|
BRT060
|
|
| Bartholin's Gland Small Cell Carcinoma
|
BRT003
|
|
| Bartholin's Gland Squamous Cell Carcinoma
|
BRT007
|
|
| Bartholin's Gland Transitional Cell Carcinoma
|
BRT010
|
|
| Bartonellosis
|
BRT043
|
|
| Bartsocas-Papas Syndrome
|
BRT059
|
BPS
|
| Bartter Disease
|
BRT004
|
|
| Bartter Syndrome Type 4
|
BRT024
|
BSND
|
| Bartter Syndrome, Type 1, Antenatal
|
BRT052
|
BARTS1
|
| Bartter Syndrome, Type 2, Antenatal
|
BRT050
|
BARTS2
|
| Bartter Syndrome, Type 3
|
BRT042
|
BARTS3
|
| Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness
|
BRT053
|
BARTS4A
|
| Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness
|
BRT056
|
BARTS4B
|
| Bartter Syndrome, Type 5, Antenatal, Transient
|
BRT049
|
BARTS5
|
| Basal Cell Carcinoma
|
BSL007
|
|
| Basal Cell Carcinoma 1
|
BSL024
|
BCC1
|
| Basal Cell Carcinoma 2
|
BSL025
|
BCC2
|
| Basal Cell Carcinoma 3
|
BSL026
|
BCC3
|
| Basal Cell Carcinoma 4
|
BSL027
|
BCC4
|
| Basal Cell Carcinoma 5
|
BSL028
|
BCC5
|
| Basal Cell Carcinoma 6
|
BSL029
|
BCC6
|
| Basal Cell Carcinoma 7
|
BSL034
|
BCC7
|
| Basal Cell Carcinoma, Infundibulocystic
|
BSL044
|
|
| Basal Cell Carcinoma, Multiple
|
BSL011
|
|
| Basal Cell Nevus Syndrome
|
BSL036
|
BCNS
|
| Basal Encephalocele
|
BSL030
|
|
| Basal Epidermolysis Bullosa Simplex
|
BSL047
|
|
| Basal Ganglia Calcification
|
BSL009
|
|
| Basal Ganglia Calcification, Idiopathic, 1
|
BSL038
|
IBGC1
|
| Basal Ganglia Calcification, Idiopathic, 2
|
BSL031
|
IBGC2
|
| Basal Ganglia Calcification, Idiopathic, 4
|
BSL032
|
IBGC4
|
| Basal Ganglia Calcification, Idiopathic, 5
|
BSL035
|
IBGC5
|
| Basal Ganglia Calcification, Idiopathic, 6
|
BSL039
|
IBGC6
|
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
|
BSL046
|
IBGC7
|
| Basal Ganglia Calcification, Idiopathic, Childhood-Onset
|
BSL043
|
|
| Basal Ganglia Cerebrovascular Disease
|
BSL005
|
|
| Basal Ganglia Disease
|
BSL008
|
|
| Basal Laminar Drusen
|
BSL037
|
BLD
|
| Basaloid Follicular Hamartoma
|
BSL013
|
|
| Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
|
BSL041
|
GBFHS
|
| Basaloid Lung Carcinoma
|
BSL003
|
|
| Basaloid Squamous Cell Carcinoma
|
BSL006
|
|
| Basaloid Squamous Cell Skin Carcinoma
|
BSL002
|
|
| Basan Syndrome
|
BSN001
|
BSNS
|
| Basaran Yilmaz Syndrome
|
BSR001
|
|
| Basedow's Coma
|
BSD002
|
|
| Basel-Vanagaite-Smirin-Yosef Syndrome
|
BSL045
|
BVSYS
|
| Basement Membrane Disease
|
BSM001
|
|
| Basidiobolomycosis
|
BSD001
|
|
| Basilar Artery Insufficiency
|
BSL001
|
|
| Basilar Artery Occlusion
|
BSL004
|
|
| Basilar Impression, Primary
|
BSL042
|
|
| Basophil Adenoma
|
BSP001
|
|
| Basophilic Adenocarcinoma
|
BSP005
|
|
| Basosquamous Carcinoma
|
BSS001
|
|
| Bassoe Syndrome
|
BSS002
|
|
| Battaglia-Neri Syndrome
|
BTT012
|
|
| Baylisascariasis
|
BYL001
|
|
| Baylisascaris Infection
|
BYL003
|
|
| Bazex Syndrome
|
BZX001
|
BZX
|
| B-Cell Adult Acute Lymphocytic Leukemia
|
BCL013
|
|
| B-Cell Childhood Acute Lymphoblastic Leukemia
|
BCL008
|
|
| B-Cell Expansion with Nfkb and T-Cell Anergy
|
BCL010
|
BENTA
|
| B-Cell Growth Factor
|
BCL014
|
BCGF
|
| B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
|
BCL016
|
|
| B-Cell Lymphoma
|
BCL017
|
|
| B-Cell Non-Hodgkin Lymphoma
|
BCL004
|
|
| Beach Ear
|
BCH001
|
|
| Beare-Stevenson Cutis Gyrata Syndrome
|
BRS002
|
BSTVS
|
| Beaulieu-Boycott-Innes Syndrome
|
BLB005
|
BBIS
|
| Becker Nevus Syndrome
|
BCK005
|
|
| Becker's Myotonia
|
BCK007
|
|
| Beckwith-Wiedemann Syndrome
|
BCK002
|
BWS
|
| Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion
|
BCK010
|
|
| Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication
|
BCK016
|
|
| Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion
|
BCK011
|
|
| Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15
|
BCK012
|
|
| Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11
|
BCK015
|
|
| Bednar Tumor
|
BDN002
|
|
| Beemer Ertbruggen Syndrome
|
BMR003
|
|
| Beemer Lethal Malformation Syndrome
|
BMR004
|
|
| Beeturia
|
BTR004
|
|
| Behavioral Variant of Frontotemporal Dementia
|
BHV002
|
BVFTD
|
| Behcet Syndrome
|
BHC003
|
BD
|
| Behcet's Syndrome Arthropathy
|
BHC001
|
|
| Behr Syndrome
|
BHR001
|
BEHRS
|
| Bejel
|
BJL001
|
BEJEL
|
| Bell's Palsy
|
BLL003
|
|
| Ben Ari Shuper Mimouni Syndrome
|
BNR003
|
|
| Benallegue Lacete Syndrome
|
BNL004
|
|
| Benign Adult Familial Myoclonic Epilepsy
|
BNG079
|
FAME
|
| Benign Angiitis of the Central Nervous System
|
BNG037
|
BACNS
|
| Benign Autosomal Dominant Myopathy
|
BNG038
|
|
| Benign Breast Adenomyoepithelioma
|
BNG014
|
|
| Benign Breast Phyllodes Tumor
|
BNG013
|
|
| Benign Cephalic Histiocytosis
|
BNG069
|
|
| Benign Childhood Occipital Epilepsy, Gastaut Type
|
BNG080
|
|
| Benign Childhood Occipital Epilepsy, Panayiotopoulos Type
|
BNG081
|
|
| Benign Chronic Pemphigus
|
BNG091
|
BCPM
|
| Benign Deep Fibrous Histiocytoma
|
BNG010
|
|
| Benign Dermal Neurilemmoma
|
BNG008
|
|
| Benign Eccrine Breast Spiradenoma
|
BNG015
|
|
| Benign Ependymoma
|
BNG030
|
|
| Benign Epilepsy with Centrotemporal Spikes
|
BNG009
|
BRE
|
| Benign Essential Hypertension
|
BNG021
|
|
| Benign Familial Infantile Epilepsy
|
BNG023
|
BFIC
|
| Benign Familial Mesial Temporal Lobe Epilepsy
|
BNG066
|
|
| Benign Familial Neonatal Epilepsy
|
BNG006
|
BFNS
|
| Benign Fibrous Mesothelioma
|
BNG017
|
|
| Benign Focal Seizures of Adolescence
|
BNG083
|
|
| Benign Hypertensive Renal Disease
|
BNG003
|
|
| Benign Idiopathic Neonatal Seizures
|
BNG077
|
BINS
|
| Benign Infantile Focal Epilepsy with Midline Spikes and Waves During Sleep
|
BNG092
|
BIMSE
|
| Benign Infantile Seizures Associated with Mild Gastroenteritis
|
BNG088
|
|
| Benign Intermediate Mesothelioma
|
BNG019
|
|
| Benign Lymphoepithelial Lesion of Salivary Gland
|
BNG007
|
|
| Benign Mammary Dysplasia
|
BNG025
|
|
| Benign Mastocytoma
|
BNG004
|
|
| Benign Mediastinal Neurilemmoma
|
BNG031
|
|
| Benign Mediastinal Psammomatous Neurilemmoma
|
BNG027
|
|
| Benign Meningioma
|
BNG002
|
|
| Benign Mesenchymoma
|
BNG012
|
|
| Benign Mesothelioma
|
BNG032
|
|
| Benign Metanephric Tumour
|
BNG089
|
|
| Benign Metastasizing Leiomyoma
|
BNG041
|
|
| Benign Multicystic Peritoneal Mesothelioma
|
BNG042
|
BMPM
|
| Benign Neonatal Seizures
|
BNG026
|
BFNS
|
| Benign Nocturnal Alternating Hemiplegia of Childhood
|
BNG090
|
|
| Benign Non-Familial Infantile Seizures
|
BNG060
|
|
| Benign Paroxysmal Positional Nystagmus
|
BNG018
|
BPPV
|
| Benign Paroxysmal Torticollis of Infancy
|
BNG078
|
|
| Benign Partial Epilepsy of Infancy with Complex Partial Seizures
|
BNG064
|
|
| Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy
|
BNG063
|
|
| Benign Partial Infantile Seizures
|
BNG065
|
|
| Benign Pericardial Teratoma
|
BNG024
|
|
| Benign Peripheral Nerve Sheath Tumor
|
BNG072
|
BPNST
|
| Benign Peritoneal Mesothelioma
|
BNG001
|
|
| Benign Perivascular Tumor
|
BNG033
|
|
| Benign Pleural Mesothelioma
|
BNG022
|
|
| Benign Prostate Phyllodes Tumor
|
BNG020
|
|
| Benign Renovascular Hypertension
|
BNG028
|
|
| Benign Samaritan Congenital Myopathy
|
BNG075
|
|
| Benign Secondary Hypertension
|
BNG034
|
|
| Benign Shuddering Attacks
|
BNG011
|
|
| Benign Struma Ovarii
|
BNG029
|
|
| Benign Tumor of Fallopian Tubes
|
BNG082
|
|
| Benign Vaginal Carcinosarcoma
|
BNG035
|
|
| Benjamin Syndrome
|
BNJ001
|
|
| Bent Bone Dysplasia Syndrome
|
BNT003
|
BBDS
|
| Benzo[d]isothiazol-3-One Allergic Contact Dermatitis
|
BNZ005
|
|
| Benzoic Acid Allergic Contact Dermatitis
|
BNZ004
|
|
| Benzylpenicillin Allergy
|
BNZ003
|
|
| Berardinelli-Seip Congenital Lipodystrophy
|
BRR012
|
GCL
|
| Beriberi
|
BRB001
|
|
| Berk-Tabatznik Syndrome
|
BRK005
|
|
| Bernard-Soulier Syndrome
|
BRN019
|
BSS
|
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
|
BRN132
|
BSSA2
|
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
|
BRR006
|
|
| Berylliosis
|
BRY001
|
|
| Beryllium Disease
|
BRY005
|
|
| Best Vitelliform Macular Dystrophy
|
BST007
|
BVMD
|
| Bestiality
|
BST003
|
|
| Bestrophinopathy, Autosomal Recessive
|
BST008
|
ARB
|
| Beta-Amino Acids, Renal Transport of
|
BTM002
|
AABT
|
| Beta-Aminoisobutyric Aciduria
|
BTM003
|
BAIBA
|
| Beta-Glucopyranoside Tasting
|
BTG003
|
|
| Beta-Lactam Allergy
|
BTL002
|
|
| Beta-Thalassemia
|
BTT014
|
B-THAL
|
| Beta-Thalassemia and Related Diseases
|
BTT015
|
|
| Beta-Thalassemia Associated with Another Hemoglobin Anomaly
|
BTT010
|
|
| Beta-Thalassemia with Other Manifestations
|
BTT008
|
|
| Beta-Thalassemia, Dominant Inclusion Body Type
|
BTT013
|
B-THALIB
|
| Beta-Ureidopropionase Deficiency
|
BTR002
|
UPB1D
|
| Bethlem Myopathy 1
|
BTH005
|
BTHLM1
|
| Bethlem Myopathy 2
|
BTH006
|
BTHLM2
|
| Beukes Hip Dysplasia
|
BKS003
|
BHD
|
| Bicervical Bicornuate Uterus and Blind Hemivagina
|
BCR005
|
|
| Bicervical Bicornuate Uterus with Patent Cervix and Vagina
|
BCR004
|
|
| Bicipital Tenosynovitis
|
BCP001
|
|
| Bickerstaff Brainstem Encephalitis
|
BCK018
|
|
| Bicornuate Uterus
|
BCR002
|
|
| Bidirectional Tachycardia
|
BDR001
|
|
| Biemond Syndrome
|
BMN001
|
|
| Biemond Syndrome Ii
|
BMN004
|
BS2
|
| Biemond Syndrome Type 1
|
BMN003
|
|
| Bier Spots
|
BRS103
|
|
| Bietti Crystalline Corneoretinal Dystrophy
|
BTT001
|
BCD
|
| Bifid Nose
|
BFD001
|
|
| Bifid Nose with or Without Anorectal and Renal Anomalies
|
BFD002
|
BNAR
|
| Bifid Nose, Autosomal Dominant
|
BFD004
|
|
| Bifid Nose, Autosomal Recessive
|
BFD005
|
|
| Bilateral Acute Depigmentation of the Iris
|
BLT023
|
BADI
|
| Bilateral Breast Cancer
|
BLT006
|
|
| Bilateral Frontal Polymicrogyria
|
BLT007
|
|
| Bilateral Generalized Polymicrogyria
|
BLT009
|
|
| Bilateral Hyperactive Labyrinth
|
BLT002
|
|
| Bilateral Hypoactive Labyrinth
|
BLT004
|
|
| Bilateral Massive Adrenal Hemorrhage
|
BLT017
|
BMAH
|
| Bilateral Meningioma of Optic Nerve
|
BLT005
|
|
| Bilateral Multicystic Dysplastic Kidney
|
BLT020
|
|
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria
|
BLT010
|
|
| Bilateral Polymicrogyria
|
BLT016
|
|
| Bilateral Renal Agenesis Dominant Type
|
BLT012
|
|
| Bilateral Renal Aplasia
|
BLT024
|
|
| Bilateral Retinoblastoma
|
BLT001
|
|
| Bile Acid Coa Ligase Deficiency and Defective Amidation
|
BLC013
|
|
| Bile Acid Malabsorption, Primary
|
BLC012
|
PBAM
|
| Bile Acid Synthesis Defect with Cholestasis and Malabsorption
|
BLC019
|
|
| Bile Acid Synthesis Defect, Congenital, 1
|
BLC007
|
CBAS1
|
| Bile Acid Synthesis Defect, Congenital, 2
|
BLC008
|
CBAS2
|
| Bile Acid Synthesis Defect, Congenital, 3
|
BLC011
|
CBAS3
|
| Bile Acid Synthesis Defect, Congenital, 4
|
BLC009
|
CBAS4
|
| Bile Acid Synthesis Defect, Congenital, 5
|
BLC016
|
CBAS5
|
| Bile Acid Synthesis Defect, Congenital, 6
|
BLC018
|
CBAS6
|
| Bile and Pancreatic Ducts, Complete Absence of
|
BLN023
|
|
| Bile Duct Adenocarcinoma
|
BLD032
|
|
| Bile Duct Adenoma
|
BLD033
|
|
| Bile Duct Cancer
|
BLD062
|
|
| Bile Duct Carcinoma in Situ
|
BLD001
|
|
| Bile Duct Clear Cell Adenocarcinoma
|
BLD006
|
|
| Bile Duct Cystadenocarcinoma
|
BLD019
|
|
| Bile Duct Cystadenoma
|
BLD035
|
|
| Bile Duct Cysts
|
BLD063
|
|
| Bile Duct Disease
|
BLD036
|
|
| Bile Duct Mucinous Adenocarcinoma
|
BLD002
|
|
| Bile Duct Mucoepidermoid Carcinoma
|
BLD005
|
|
| Bile Duct Rhabdomyosarcoma
|
BLD037
|
|
| Bile Duct Sarcoma
|
BLD038
|
|
| Bile Duct Signet Ring Cell Carcinoma
|
BLD007
|
|
| Bile Reflux
|
BLR002
|
|
| Biliary Atresia
|
BLR001
|
|
| Biliary Atresia and Associated Disorders
|
BLR032
|
|
| Biliary Atresia Intrahepatic Non Syndromic Form
|
BLR010
|
|
| Biliary Atresia Intrahepatic Syndromic Form
|
BLR011
|
|
| Biliary Atresia with Splenic Malformation Syndrome
|
BLR023
|
|
| Biliary Atresia, Extrahepatic
|
BLR028
|
EHBA
|
| Biliary Cirrhosis, Primary, 1
|
BLR024
|
PBC1
|
| Biliary Cirrhosis, Primary, 2
|
BLR016
|
PBC2
|
| Biliary Cirrhosis, Primary, 3
|
BLR017
|
PBC3
|
| Biliary Cirrhosis, Primary, 4
|
BLR025
|
PBC4
|
| Biliary Cirrhosis, Primary, 5
|
BLR026
|
PBC5
|
| Biliary Dyskinesia
|
BLR004
|
|
| Biliary Hypoplasia
|
BLR012
|
|
| Biliary Malformation with Renal Tubular Insufficiency
|
BLR029
|
|
| Biliary Papillomatosis
|
BLR005
|
|
| Biliary Tract Benign Neoplasm
|
BLR031
|
|
| Biliary Tract Cancer
|
BLR013
|
|
| Biliary Tract Disease
|
BLR006
|
|
| Biliary Tract Intraductal Papillary Mucinous Neoplasm
|
BLR003
|
|
| Bilirubin Metabolic Disorder
|
BLR008
|
|
| Bilirubin, Serum Level of, Quantitative Trait Locus 1
|
BLR030
|
BILIQTL1
|
| Billet Bear Syndrome
|
BLL008
|
|
| Binocular Vision Disease
|
BNC002
|
|
| Binswanger's Disease
|
BNS003
|
|
| Biological Anomaly Without Phenotypic Characterization
|
BLG001
|
|
| Biotin Deficiency
|
BTN004
|
|
| Biotinidase Deficiency
|
BTN003
|
BTD DEFICIENCY
|
| Biotin-Thiamine-Responsive Basal Ganglia Disease
|
BTN005
|
BBGD
|
| Biparental Mitochondrial Dna Transmission
|
BPR002
|
|
| Bipartite Talus
|
BPR001
|
|
| Biphasic Synovial Sarcoma
|
BPH002
|
|
| Bipolar Disorder
|
BPL003
|
|
| Bipolar I Disorder
|
BPL002
|
|
| Bipolar Ll Disorder
|
BPL001
|
|
| Birbeck Granule Deficiency
|
BRB005
|
BIRGD
|
| Bird Fancier's Lung
|
BRD003
|
|
| Birdshot Chorioretinopathy
|
BRD025
|
BSCR
|
| Birk-Barel Syndrome
|
BRK002
|
BIBAS
|
| Birk-Landau-Perez Syndrome
|
BRK013
|
BILAPES
|
| Birth Weight Quantitative Trait Locus 2
|
BRT057
|
BWQTL2
|
| Birth Weight Quantitative Trait Locus 4
|
BRT058
|
BWQTL4
|
| Birt-Hogg-Dube Syndrome
|
BRT002
|
BHD
|
| Bizarre Leiomyoma
|
BZR001
|
|
| Bizzare Parosteal Osteochondromatous Proliferation
|
BZZ001
|
BPOP
|
| Bjornstad Syndrome
|
BJR001
|
BJS
|
| Bk-Virus Nephropathy
|
BKV001
|
BKN
|
| Black Hairy Tongue
|
BLC017
|
|
| Black Piedra
|
BLC002
|
|
| Blackwater Fever
|
BLC004
|
|
| Bladder Adenocarcinoma
|
BLD039
|
|
| Bladder Benign Neoplasm
|
BLD040
|
|
| Bladder Calculus
|
BLD041
|
|
| Bladder Cancer
|
BLD134
|
BLC
|
| Bladder Cancer, Childhood
|
BLD064
|
|
| Bladder Carcinoma in Situ
|
BLD008
|
|
| Bladder Clear Cell Adenocarcinoma
|
BLD043
|
|
| Bladder Colloid Adenocarcinoma
|
BLD010
|
|
| Bladder Colonic Type Adenocarcinoma
|
BLD014
|
|
| Bladder Diffuse Clear Cell Adenocarcinoma
|
BLD020
|
|
| Bladder Disease
|
BLD044
|
|
| Bladder Diverticulum
|
BLD045
|
|
| Bladder Dome Cancer
|
BLD029
|
|
| Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex
|
BLD129
|
EEC
|
| Bladder Flat Intraepithelial Lesion
|
BLD022
|
|
| Bladder Hepatoid Adenocarcinoma
|
BLD018
|
|
| Bladder Lateral Wall Cancer
|
BLD003
|
|
| Bladder Leiomyoma
|
BLD023
|
|
| Bladder Lymphoma
|
BLD028
|
|
| Bladder Mixed Adenocarcinoma
|
BLD017
|
|
| Bladder Neck Cancer
|
BLD027
|
|
| Bladder Neck Obstruction
|
BLD009
|
|
| Bladder Papillary Clear Cell Adenocarcinoma
|
BLD016
|
|
| Bladder Papillary Transitional Cell Neoplasm
|
BLD046
|
|
| Bladder Sarcoma
|
BLD025
|
|
| Bladder Signet Ring Cell Adenocarcinoma
|
BLD031
|
|
| Bladder Squamous Cell Carcinoma
|
BLD047
|
|
| Bladder Squamous Papilloma
|
BLD024
|
|
| Bladder Transitional Cell Papilloma
|
BLD049
|
|
| Bladder Trigone Cancer
|
BLD026
|
|
| Bladder Tuberculosis
|
BLD030
|
|
| Bladder Tubulo-Cystic Clear Cell Adenocarcinoma
|
BLD015
|
|
| Bladder Urachal Adenocarcinoma
|
BLD021
|
|
| Bladder Urachal Carcinoma
|
BLD050
|
|
| Bladder Urachal Squamous Cell Carcinoma
|
BLD013
|
|
| Bladder Urachal Urothelial Carcinoma
|
BLD004
|
|
| Bladder Urothelial Carcinoma
|
BLD131
|
|
| Bladder Urothelial Papillary Carcinoma
|
BLD012
|
|
| Bladder Verrucous Squamous Cell Carcinoma
|
BLD011
|
|
| Blake Pouch Cyst
|
BLK004
|
|
| Blastema Predominant Kidney Wilms' Tumor
|
BLS005
|
|
| Blastic Plasmacytoid Dendritic Cell
|
BLS007
|
BPDCN
|
| Blastomycosis
|
BLS002
|
|
| Blau Syndrome
|
BLS001
|
BLAUS
|
| Bleeding Disorder, East Texas Type
|
BLD072
|
BDET
|
| Bleeding Disorder, Platelet-Type, 11
|
BLD124
|
BDPLT11
|
| Bleeding Disorder, Platelet-Type, 12
|
BLD154
|
BDPLT12
|
| Bleeding Disorder, Platelet-Type, 13
|
BLD123
|
BDPLT13
|
| Bleeding Disorder, Platelet-Type, 14
|
BLD156
|
BDPLT14
|
| Bleeding Disorder, Platelet-Type, 15
|
BLD121
|
BDPLT15
|
| Bleeding Disorder, Platelet-Type, 16
|
BLD152
|
BDPLT16
|
| Bleeding Disorder, Platelet-Type, 17
|
BLD125
|
BDPLT17
|
| Bleeding Disorder, Platelet-Type, 18
|
BLD126
|
BDPLT18
|
| Bleeding Disorder, Platelet-Type, 19
|
BLD127
|
BDPLT19
|
| Bleeding Disorder, Platelet-Type, 20
|
BLD133
|
BDPLT20
|
| Bleeding Disorder, Platelet-Type, 21
|
BLD132
|
BDPLT21
|
| Bleeding Disorder, Platelet-Type, 22
|
BLD168
|
BDPLT22
|
| Bleeding Disorder, Platelet-Type, 8
|
BLD120
|
BDPLT8
|
| Bleeding Disorder, Platelet-Type, 9
|
BLD157
|
BDPLT9
|
| Blepharitis
|
BLP005
|
|
| Blepharo Naso Facial Syndrome Van Maldergem Type
|
BLP007
|
|
| Blepharochalasis
|
BLP001
|
|
| Blepharochalasis and Double Lip
|
BLP041
|
|
| Blepharochalasis, Superior
|
BLP045
|
|
| Blepharocheilodontic Syndrome 1
|
BLP047
|
BCDS1
|
| Blepharocheilodontic Syndrome 2
|
BLP049
|
BCDS2
|
| Blepharoconjunctivitis
|
BLP006
|
|
| Blepharonasofacial Malformation Syndrome
|
BLP009
|
|
| Blepharophimosis
|
BLP004
|
|
| Blepharophimosis Intellectual Disability Syndromes
|
BLP010
|
BMRS
|
| Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
|
BLP044
|
|
| Blepharophimosis with Ptosis, Syndactyly, and Short Stature
|
BLP011
|
|
| Blepharophimosis, Ptosis, and Epicanthus Inversus
|
BLP046
|
BPES
|
| Blepharoptosis, Myopia, and Ectopia Lentis
|
BLP042
|
|
| Blepharospasm
|
BLP003
|
|
| Blepharospasm, Benign Essential
|
BLP048
|
BEB
|
| Blessig's Cysts
|
BLS004
|
|
| Blind Hypertensive Eye
|
BLN007
|
|
| Blind Hypotensive Eye
|
BLN008
|
|
| Blind Loop Syndrome
|
BLN006
|
|
| Blood Coagulation Disease
|
BLD051
|
|
| Blood Group Incompatibility
|
BLD052
|
|
| Blood Group System, Landsteiner-Wiener
|
BLD144
|
LW
|
| Blood Group, Chido/rodgers System
|
BLD158
|
|
| Blood Group, Colton System
|
BLD165
|
CO
|
| Blood Group, Cromer System
|
BLD155
|
CROM
|
| Blood Group, Diego System
|
BLD166
|
DI
|
| Blood Group, Dombrock System
|
BLD163
|
DO
|
| Blood Group, Gerbich System
|
BLD164
|
GE
|
| Blood Group, Globoside System
|
BLD161
|
GLOB
|
| Blood Group, I System
|
BLD140
|
II
|
| Blood Group, John Milton Hagen System
|
BLD160
|
JMH
|
| Blood Group, Junior System
|
BLD159
|
JR
|
| Blood Group, Kidd System
|
BLD167
|
JK
|
| Blood Group, Langereis System
|
BLD148
|
LAN
|
| Blood Group, P1pk System
|
BLD146
|
|
| Blood Group, Vel System
|
BLD162
|
VEL
|
| Blood Group--Abh Antigen, Type 2
|
BLD136
|
|
| Blood Group--Abo Suppressor
|
BLD135
|
|
| Blood Group--Ahonen
|
BLD137
|
AN
|
| Blood Group--En
|
BLD139
|
|
| Blood Group--Kell System
|
BLD141
|
KEL
|
| Blood Group--Lke
|
BLD143
|
LKE
|
| Blood Group--Newfoundland
|
BLD145
|
NFLD
|
| Blood Group--Private Systems
|
BLD147
|
|
| Blood Group--Swann System
|
BLD153
|
SW
|
| Blood Group--Ul System
|
BLD150
|
UL
|
| Blood Group--Wright Antigen
|
BLD151
|
WR
|
| Blood Platelet Disease
|
BLD053
|
|
| Blood Protein Disease
|
BLD054
|
|
| Bloom Syndrome
|
BLM001
|
BLM
|
| Blount Disease, Adolescent
|
BLN021
|
|
| Blount Disease, Infantile
|
BLN020
|
|
| Blount's Disease
|
BLN001
|
|
| Blue Cone Monochromacy
|
BLC001
|
BCM
|
| Blue Diaper Syndrome
|
BLD065
|
|
| Blue Drum Syndrome
|
BLD055
|
|
| Blue Nevi, Familial Multiple
|
BLN022
|
|
| Blue Rubber Bleb Nevus
|
BLR027
|
BRBN
|
| Blue Toe Syndrome
|
BLT003
|
|
| Blunt Duct Adenosis of Breast
|
BLN005
|
|
| Bobble-Head Doll Syndrome
|
BBB001
|
BHDS
|
| Body Dysmorphic Disorder
|
BDY001
|
|
| Body Length, Mouse, Human Homolog
|
BDY003
|
|
| Body Mass Index Quantitative Trait Locus 1
|
BDY007
|
BMIQ1
|
| Body Mass Index Quantitative Trait Locus 10
|
BDY011
|
BMIQ10
|
| Body Mass Index Quantitative Trait Locus 11
|
BDY004
|
BMIQ11
|
| Body Mass Index Quantitative Trait Locus 12
|
BDY015
|
BMIQ12
|
| Body Mass Index Quantitative Trait Locus 13
|
BDY016
|
BMIQ13
|
| Body Mass Index Quantitative Trait Locus 14
|
BDY017
|
BMIQ14
|
| Body Mass Index Quantitative Trait Locus 15
|
BDY018
|
BMIQ15
|
| Body Mass Index Quantitative Trait Locus 18
|
BDY019
|
BMIQ18
|
| Body Mass Index Quantitative Trait Locus 19
|
BDY020
|
BMIQ19
|
| Body Mass Index Quantitative Trait Locus 2
|
BDY008
|
BMIQ2
|
| Body Mass Index Quantitative Trait Locus 20
|
BDY021
|
BMIQ20
|
| Body Mass Index Quantitative Trait Locus 3
|
BDY009
|
BMIQ3
|
| Body Mass Index Quantitative Trait Locus 4
|
BDY010
|
BMIQ4
|
| Body Mass Index Quantitative Trait Locus 5
|
BDY013
|
BMIQ5
|
| Body Mass Index Quantitative Trait Locus 6
|
BDY014
|
BMIQ6
|
| Body Mass Index Quantitative Trait Locus 7
|
BDY012
|
BMIQ7
|
| Body Mass Index Quantitative Trait Locus 8
|
BDY006
|
BMIQ8
|
| Body Mass Index Quantitative Trait Locus 9
|
BDY005
|
BMIQ9
|
| Boerhaave Syndrome
|
BRH001
|
|
| Bohring-Opitz Syndrome
|
BHR002
|
BOPS
|
| Bolivian Hemorrhagic Fever
|
BLV001
|
|
| Bombay Phenotype
|
BMB001
|
|
| Bone Ameloblastoma
|
BNM012
|
|
| Bone Angioendothelial Sarcoma
|
BNN002
|
|
| Bone Benign Neoplasm
|
BNB001
|
|
| Bone Cancer
|
BNC003
|
|
| Bone Chondrosarcoma
|
BNC005
|
|
| Bone Deterioration Disease
|
BND004
|
|
| Bone Development Disease
|
BND014
|
|
| Bone Disease
|
BND020
|
|
| Bone Dysplasia Azouz Type
|
BND005
|
|
| Bone Dysplasia Corpus Callosum Agenesis
|
BND006
|
|
| Bone Dysplasia Moore Type
|
BND008
|
|
| Bone Dysplasia, Lethal, Holmgren Type
|
BND017
|
|
| Bone Epithelioid Hemangioma
|
BNP002
|
|
| Bone Fragility with Contractures, Arterial Rupture, and Deafness
|
BNF003
|
LH3 DEFICIENCY
|
| Bone Giant Cell Sarcoma
|
BNG005
|
|
| Bone Giant Cell Tumor
|
BNG036
|
|
| Bone Inflammation Disease
|
BNN003
|
|
| Bone Leiomyosarcoma
|
BNL001
|
|
| Bone Lymphoma
|
BNL002
|
|
| Bone Marrow Cancer
|
BNM001
|
|
| Bone Marrow Failure Syndrome 1
|
BNM010
|
BMFS1
|
| Bone Marrow Failure Syndrome 2
|
BNM011
|
BMFS2
|
| Bone Marrow Failure Syndrome 3
|
BNM013
|
BMFS3
|
| Bone Marrow Failure Syndrome 4
|
BNM032
|
BMFS4
|
| Bone Marrow Failure Syndrome 5
|
BNM033
|
BMFS5
|
| Bone Marrow Necrosis
|
BNM005
|
|
| Bone Mineral Density Quantitative Trait Locus 1
|
BNM016
|
BMND1
|
| Bone Mineral Density Quantitative Trait Locus 10
|
BNM024
|
BMND10
|
| Bone Mineral Density Quantitative Trait Locus 11
|
BNM025
|
BMND11
|
| Bone Mineral Density Quantitative Trait Locus 12
|
BNM026
|
BMND12
|
| Bone Mineral Density Quantitative Trait Locus 13
|
BNM027
|
BMND13
|
| Bone Mineral Density Quantitative Trait Locus 14
|
BNM028
|
BMND14
|
| Bone Mineral Density Quantitative Trait Locus 15
|
BNM029
|
BMND15
|
| Bone Mineral Density Quantitative Trait Locus 16
|
BNM030
|
BMND16
|
| Bone Mineral Density Quantitative Trait Locus 17
|
BNM031
|
BMND17
|
| Bone Mineral Density Quantitative Trait Locus 18
|
BNM015
|
BMND18
|
| Bone Mineral Density Quantitative Trait Locus 2
|
BNM017
|
BMND2
|
| Bone Mineral Density Quantitative Trait Locus 3
|
BNM018
|
BMND3
|
| Bone Mineral Density Quantitative Trait Locus 4
|
BNM014
|
BMND4
|
| Bone Mineral Density Quantitative Trait Locus 5
|
BNM019
|
BMND5
|
| Bone Mineral Density Quantitative Trait Locus 6
|
BNM020
|
BMND6
|
| Bone Mineral Density Quantitative Trait Locus 7
|
BNM021
|
BMND7
|
| Bone Mineral Density Quantitative Trait Locus 8
|
BNM022
|
BMND8
|
| Bone Mineral Density Quantitative Trait Locus 9
|
BNM023
|
BMND9
|
| Bone Osteosarcoma
|
BNS001
|
|
| Bone Pain, Periodic
|
BNP003
|
|
| Bone Peripheral Neuroepithelioma
|
BNP001
|
|
| Bone Remodeling Disease
|
BNR001
|
|
| Bone Resorption Disease
|
BNR002
|
|
| Bone Sarcoma
|
BNS007
|
|
| Bone Size Quantitative Trait Locus 1
|
BNS005
|
|
| Bone Size Quantitative Trait Locus 2
|
BNS006
|
|
| Bone Squamous Cell Carcinoma
|
BNS004
|
|
| Bone Structure Disease
|
BNS002
|
|
| Book Syndrome
|
BKS002
|
|
| Boomerang Dysplasia
|
BMR001
|
BOOMD
|
| Borderline Epithelial Tumor of Ovary
|
BRD046
|
|
| Borderline Glaucoma
|
BRD008
|
|
| Borderline Leprosy
|
BRD005
|
|
| Borderline Personality Disorder
|
BRD004
|
|
| Bordetella Parapertussis Whooping Cough
|
BRD007
|
|
| Borjeson-Forssman-Lehmann Syndrome
|
BRJ001
|
BFLS
|
| Bork Stender Schmidt Syndrome
|
BRK006
|
|
| Borna Disease
|
BRN018
|
|
| Bornholm Eye Disease
|
BRN041
|
BED
|
| Borrone Di Rocco Crovato Syndrome
|
BRR007
|
|
| Borst-Jadassohn Intraepidermal Carcinoma
|
BRS013
|
|
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
|
BSC005
|
BBSOAS
|
| Bosma Arhinia Microphthalmia Syndrome
|
BSM002
|
BAMS
|
| Bothnia Retinal Dystrophy
|
BTH002
|
BRD
|
| Bothriocephalosis
|
BTH003
|
|
| Botryoid Rhabdomyosarcoma
|
BTR001
|
|
| Boucher-Neuhauser Syndrome
|
BCH003
|
BNHS
|
| Boudhina Yedes Khiari Syndrome
|
BDH001
|
|
| Boutonneuse Fever
|
BTN002
|
|
| Bow Hunter's Stroke
|
BWH001
|
|
| Bowen Syndrome of Multiple Malformations
|
BWN007
|
|
| Bowen-Conradi Syndrome
|
BWN001
|
BWCNS
|
| Bowenoid Papulosis
|
BWN003
|
BP
|
| Bowen's Disease
|
BWN006
|
|
| Bowing of Long Bones Congenital
|
BWN005
|
|
| Bowing of Long Bones, Asymmetric and Symmetric
|
BWN008
|
|
| Bowman's Membrane Folds or Rupture
|
BWM001
|
|
| Boylan Dew Greco Syndrome
|
BYL002
|
|
| Brachial Amelia, Cleft Lip, and Holoprosencephaly
|
BRC116
|
ACLH
|
| Brachial Palsy, Familial Congenital
|
BRC118
|
|
| Brachial Plexus Lesion
|
BRC010
|
|
| Brachial Plexus Neoplasm
|
BRC001
|
|
| Brachial Plexus Neuritis
|
BRC002
|
|
| Brachial Plexus Neuropathy
|
BRC011
|
|
| Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay
|
BRC107
|
|
| Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation
|
BRC097
|
|
| Brachycephaly, Trichomegaly, and Developmental Delay
|
BRC106
|
BTDD
|
| Brachydactylous Dwarfism Mseleni Type
|
BRC020
|
|
| Brachydactyly
|
BRC006
|
|
| Brachydactyly Absence of Distal Phalanges
|
BRC021
|
|
| Brachydactyly Anonychia
|
BRC022
|
|
| Brachydactyly Elbow Wrist Dysplasia
|
BRC024
|
|
| Brachydactyly Small Stature Face Anomalies
|
BRC029
|
|
| Brachydactyly Tibial Hypoplasia
|
BRC030
|
|
| Brachydactyly Type A5
|
BRC035
|
|
| Brachydactyly Type A7
|
BRC037
|
|
| Brachydactyly, Coloboma, and Anterior Segment Dysgenesis
|
BRC119
|
|
| Brachydactyly, Combined B and E Types
|
BRC100
|
|
| Brachydactyly, Intraventricular Septal Defect, and Deafness
|
BRC117
|
|
| Brachydactyly, Mononen Type
|
BRC095
|
|
| Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction
|
BRC093
|
|
| Brachydactyly, Type A1
|
BRC078
|
BDA1
|
| Brachydactyly, Type A1, B
|
BRC080
|
BDA1B
|
| Brachydactyly, Type A1, C
|
BRC075
|
BDA1C
|
| Brachydactyly, Type A1, D
|
BRC105
|
BDA1D
|
| Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation
|
BRC121
|
|
| Brachydactyly, Type A2
|
BRC079
|
BDA2
|
| Brachydactyly, Type A2, with Microcephaly
|
BRC113
|
|
| Brachydactyly, Type A3
|
BRC108
|
BDA3
|
| Brachydactyly, Type A4
|
BRC099
|
BDA4
|
| Brachydactyly, Type B1
|
BRC051
|
BDB1
|
| Brachydactyly, Type B2
|
BRC052
|
BDB2
|
| Brachydactyly, Type C
|
BRC081
|
BDC
|
| Brachydactyly, Type D
|
BRC062
|
BDD
|
| Brachydactyly, Type E, with Atrial Septal Defect, Type Ii
|
BRC110
|
|
| Brachydactyly, Type E1
|
BRC109
|
BDE1
|
| Brachydactyly, Type E2
|
BRC060
|
BDE2
|
| Brachydactyly-Distal Symphalangism Syndrome
|
BRC096
|
|
| Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia
|
BRC090
|
|
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
|
BRC089
|
|
| Brachydactyly-Nystagmus-Cerebellar Ataxia
|
BRC098
|
|
| Brachydactyly-Syndactyly Syndrome
|
BRC004
|
BDSD
|
| Brachymesomelia-Renal Syndrome
|
BRC111
|
|
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
|
BRC094
|
|
| Brachymetatarsus Iv
|
BRC112
|
|
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
|
BRC091
|
|
| Brachyolmia
|
BRC003
|
|
| Brachyolmia Type 1, Hobaek Type
|
BRC114
|
BCYM1A
|
| Brachyolmia Type 1, Toledo Type
|
BRC115
|
BCYM1B
|
| Brachyolmia Type 2
|
BRC053
|
BCYM2
|
| Brachyolmia Type 3
|
BRC045
|
BCYM3
|
| Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes
|
BRC120
|
BCYM4
|
| Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia
|
BRC046
|
|
| Brachytelephalangy with Characteristic Facies and Kallmann Syndrome
|
BRC092
|
|
| Braddock Jones Superneau Syndrome
|
BRD027
|
|
| Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis
|
BRN142
|
BANDDOS
|
| Brain and Spinal Tumors
|
BRN069
|
|
| Brain Angioma
|
BRN027
|
|
| Brain Cancer
|
BRN028
|
|
| Brain Compression
|
BRN008
|
|
| Brain Dopamine-Serotonin Vesicular Transport Disease
|
BRN112
|
|
| Brain Edema
|
BRN004
|
|
| Brain Ependymoma
|
BRN030
|
|
| Brain Germinoma
|
BRN031
|
|
| Brain Glioblastoma Multiforme
|
BRN005
|
|
| Brain Glioma
|
BRN032
|
|
| Brain Inflammatory Disease
|
BRN147
|
|
| Brain Injury
|
BRN071
|
|
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
|
BRN122
|
|
| Brain Malformations with or Without Urinary Tract Defects
|
BRN134
|
BRMUTD
|
| Brain Meningioma
|
BRN034
|
|
| Brain Oligodendroglioma
|
BRN007
|
|
| Brain Sarcoma
|
BRN021
|
|
| Brain Small Vessel Disease 1 with or Without Ocular Anomalies
|
BRN139
|
BSVD1
|
| Brain Small Vessel Disease 2
|
BRN140
|
BSVD2
|
| Brain Small Vessel Disease 3
|
BRN141
|
BSVD3
|
| Brain Stem Angioblastoma
|
BRN020
|
|
| Brain Stem Astrocytic Neoplasm
|
BRN011
|
|
| Brain Stem Cancer
|
BRN048
|
|
| Brain Stem Ependymoma
|
BRN023
|
|
| Brain Stem Glioma
|
BRN035
|
|
| Brain Stem Infarction
|
BRN036
|
|
| Brain Stem Medulloblastoma
|
BRN116
|
|
| Brain Tumor, Childhood
|
BRN049
|
|
| Brainstem Intraparenchymal Clear Cell Meningioma
|
BRN025
|
|
| Branch Retinal Artery Occlusion
|
BRN026
|
|
| Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
|
BRN135
|
BCKDKD
|
| Branchial Arch Defects
|
BRN050
|
|
| Branchial Arch or Oral-Acral Syndrome
|
BRN146
|
|
| Branchial Arch Syndrome, X-Linked
|
BRN123
|
|
| Branchial Cleft Anomalies
|
BRN129
|
|
| Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
|
BRN130
|
|
| Branchiogenic-Deafness Syndrome
|
BRN125
|
|
| Branchiooculofacial Syndrome
|
BRN003
|
BOFS
|
| Branchiootic Syndrome
|
BRN042
|
BOR
|
| Branchiootic Syndrome 1
|
BRN108
|
BOS1
|
| Branchiootic Syndrome 2
|
BRN073
|
BOS2
|
| Branchiootic Syndrome 3
|
BRN128
|
BOS3
|
| Branchiootorenal Spectrum Disorder
|
BRN138
|
|
| Branchiootorenal Syndrome
|
BRN006
|
|
| Branchiootorenal Syndrome 1
|
BRN131
|
BOR1
|
| Branchiootorenal Syndrome 2
|
BRN086
|
BOR2
|
| Branchiootorenal/branchiootic Syndrome
|
BRN121
|
BOR
|
| Brawny Scleritis
|
BRW005
|
|
| Brazilian Hemorrhagic Fever
|
BRZ001
|
|
| Brca1 Hereditary Breast and Ovarian Cancer Syndrome
|
BRC084
|
|
| Brca2 Hereditary Breast and Ovarian Cancer Syndrome
|
BRC085
|
HBOC
|
| Breast Abscess
|
BRS102
|
|
| Breast Adenocarcinoma
|
BRS044
|
|
| Breast Adenoid Cystic Carcinoma
|
BRS023
|
|
| Breast Adenoma
|
BRS045
|
|
| Breast Adenomyoepithelial Adenosis
|
BRS003
|
|
| Breast Adenomyoepithelioma
|
BRS017
|
|
| Breast Angiomatosis
|
BRS012
|
|
| Breast Angiosarcoma
|
BRS004
|
|
| Breast Apocrine Adenoma
|
BRS038
|
|
| Breast Apocrine Carcinoma
|
BRS026
|
|
| Breast Apocrine Carcinoma in Situ
|
BRS033
|
|
| Breast Benign Neoplasm
|
BRS046
|
|
| Breast Cancer
|
BRS047
|
BC
|
| Breast Cancer, Childhood
|
BRS067
|
|
| Breast Cancer-Related Regulator of Tp53
|
BRS109
|
BCPR
|
| Breast Capillary Hemangioma
|
BRS040
|
|
| Breast Carcinoma in Situ
|
BRS049
|
|
| Breast Columnar Cell Mucinous Carcinoma
|
BRS028
|
|
| Breast Cyst
|
BRS050
|
|
| Breast Cystic Hypersecretory Carcinoma
|
BRS037
|
|
| Breast Disease
|
BRS051
|
|
| Breast Duct Papilloma
|
BRS052
|
|
| Breast Ductal Adenoma
|
BRS036
|
|
| Breast Ductal Carcinoma
|
BRS099
|
|
| Breast Epithelioid Hemangioma
|
BRS041
|
|
| Breast Fibroadenoma
|
BRS053
|
|
| Breast Fibroadenosis
|
BRS039
|
|
| Breast Fibrosarcoma
|
BRS011
|
|
| Breast Giant Fibroadenoma
|
BRS008
|
|
| Breast Granular Cell Tumor
|
BRS006
|
|
| Breast Hemangioma
|
BRS054
|
|
| Breast Hemangiopericytoma
|
BRS034
|
|
| Breast Intracanalicular Fibroadenoma
|
BRS021
|
|
| Breast Intraductal Papillomatosis
|
BRS035
|
|
| Breast Intraductal Proliferative Lesion
|
BRS055
|
|
| Breast Juvenile Papillomatosis
|
BRS025
|
|
| Breast Large Cell Neuroendocrine Carcinoma
|
BRS024
|
|
| Breast Leiomyoma
|
BRS018
|
|
| Breast Leiomyosarcoma
|
BRS043
|
|
| Breast Lipoma
|
BRS009
|
|
| Breast Liposarcoma
|
BRS022
|
|
| Breast Lymphoma
|
BRS001
|
|
| Breast Malignant Eccrine Spiradenoma
|
BRS027
|
|
| Breast Malignant Phyllodes Tumor
|
BRS007
|
|
| Breast Medullary Carcinoma
|
BRS015
|
|
| Breast Metaplastic Carcinoma
|
BRS056
|
|
| Breast Mucinous Carcinoma
|
BRS057
|
|
| Breast Mucinous Cystadenocarcinoma
|
BRS019
|
|
| Breast Mucoepidermoid Carcinoma
|
BRS010
|
|
| Breast Myoepithelial Carcinoma
|
BRS029
|
|
| Breast Myoepithelial Neoplasm
|
BRS058
|
|
| Breast Myoepitheliosis
|
BRS059
|
|
| Breast Myofibroblastoma
|
BRS016
|
|
| Breast Neuroendocrine Neoplasm
|
BRS005
|
|
| Breast Osteosarcoma
|
BRS030
|
|
| Breast Papillary Carcinoma
|
BRS032
|
|
| Breast Papillomatosis
|
BRS060
|
|
| Breast Pericanalicular Fibroadenoma
|
BRS020
|
|
| Breast Rhabdomyosarcoma
|
BRS031
|
|
| Breast Sarcoma
|
BRS061
|
|
| Breast Scirrhous Carcinoma
|
BRS042
|
|
| Breast Secretory Carcinoma
|
BRS062
|
SBC
|
| Breast Signet Ring Cell Adenocarcinoma
|
BRS014
|
|
| Breast Squamous Cell Carcinoma
|
BRS063
|
|
| Breast-Ovarian Cancer, Familial 1
|
BRS110
|
BROVCA1
|
| Breast-Ovarian Cancer, Familial 2
|
BRS111
|
BROVCA2
|
| Breast-Ovarian Cancer, Familial 3
|
BRS088
|
BROVCA3
|
| Breast-Ovarian Cancer, Familial 4
|
BRS098
|
BROVCA4
|
| Breasts and/or Nipples, Aplasia or Hypoplasia of, 1
|
BRS108
|
BNAH1
|
| Breasts and/or Nipples, Aplasia or Hypoplasia of, 2
|
BRS100
|
BNAH2
|
| Breath-Holding Spells
|
BRT055
|
BHS
|
| Brenner Tumor of Ovary
|
BRN126
|
|
| Brenner Tumor of the Vagina
|
BRN052
|
|
| Brill-Zinsser Disease
|
BRL001
|
|
| Brittle Bone Disorder
|
BRT054
|
OI
|
| Brittle Bone Syndrome Lethal Type
|
BRT025
|
|
| Brittle Cornea Syndrome 1
|
BRT028
|
BCS1
|
| Brittle Cornea Syndrome 2
|
BRT029
|
BCS2
|
| Brittle Diabetes
|
BRT037
|
|
| Broad Ligament Malignant Neoplasm
|
BRD006
|
|
| Broad Terminal Phalanges, Familial
|
BRD052
|
|
| Brody Myopathy
|
BRD001
|
BRM
|
| Broken Heart Syndrome
|
BRK012
|
ASC
|
| Bronchial Adenomas/carcinoids Childhood
|
BRN053
|
|
| Bronchial Disease
|
BRN038
|
|
| Bronchial Mucus Gland Adenoma
|
BRN010
|
|
| Bronchial Neoplasm
|
BRN039
|
|
| Bronchial Neuroendocrine Tumor
|
BRN137
|
|
| Bronchiectasis
|
BRN022
|
|
| Bronchiectasis 1
|
BRN143
|
|
| Bronchiectasis 2
|
BRN144
|
|
| Bronchiectasis 3
|
BRN145
|
|
| Bronchiectasis Oligospermia
|
BRN054
|
|
| Bronchiectasis with or Without Elevated Sweat Chloride 1
|
BRN076
|
BESC1
|
| Bronchiectasis with or Without Elevated Sweat Chloride 2
|
BRN075
|
BESC2
|
| Bronchiectasis with or Without Elevated Sweat Chloride 3
|
BRN077
|
BESC3
|
| Bronchiolitis
|
BRN002
|
|
| Bronchiolitis Obliterans
|
BRN012
|
|
| Bronchiolitis Obliterans with Obstructive Pulmonary Disease
|
BRN101
|
|
| Bronchiolo-Alveolar Adenocarcinoma
|
BRN015
|
|
| Bronchitis
|
BRN024
|
|
| Bronchogenic Cyst
|
BRN055
|
|
| Bronchomalacia
|
BRN133
|
|
| Bronchopneumonia
|
BRN014
|
|
| Bronchopulmonary Dysplasia
|
BRN056
|
BPD
|
| Bronchus Adenoma
|
BRN040
|
|
| Bronchus Cancer
|
BRN120
|
|
| Bronchus Carcinoma in Situ
|
BRN001
|
|
| Bronchus Mucoepidermoid Carcinoma
|
BRN115
|
|
| Brooke-Spiegler Syndrome
|
BRK001
|
BRSS
|
| Brown Shrimp Allergy
|
BRW010
|
|
| Brown Syndrome
|
BRW006
|
BRWNS
|
| Brown's Tendon Sheath Syndrome
|
BRW002
|
|
| Brown-Sequard Syndrome
|
BRW004
|
|
| Brown-Vialetto-Van Laere Syndrome
|
BRW001
|
|
| Brown-Vialetto-Van Laere Syndrome 1
|
BRW009
|
BVVLS1
|
| Brown-Vialetto-Van Laere Syndrome 2
|
BRW008
|
BVVLS2
|
| Brucella Abortus Brucellosis
|
BRC009
|
|
| Brucella Canis Brucellosis
|
BRC007
|
|
| Brucella Melitensis Brucellosis
|
BRC008
|
|
| Brucella Suis Brucellosis
|
BRC005
|
|
| Brucellosis
|
BRC012
|
|
| Bruck Syndrome
|
BRC015
|
|
| Bruck Syndrome 1
|
BRC047
|
BRKS1
|
| Bruck Syndrome 2
|
BRC048
|
BRKS2
|
| Brugada Syndrome
|
BRG001
|
SUDS
|
| Brugada Syndrome 1
|
BRG005
|
BRGDA1
|
| Brugada Syndrome 2
|
BRG006
|
BRGDA2
|
| Brugada Syndrome 3
|
BRG003
|
BRGDA3
|
| Brugada Syndrome 4
|
BRG004
|
BRGDA4
|
| Brugada Syndrome 5
|
BRG007
|
BRGDA5
|
| Brugada Syndrome 6
|
BRG008
|
BRGDA6
|
| Brugada Syndrome 7
|
BRG009
|
BRGDA7
|
| Brugada Syndrome 8
|
BRG010
|
BRGDA8
|
| Brugada Syndrome 9
|
BRG012
|
BRGDA9
|
| Brunner Syndrome
|
BRN045
|
BRNRS
|
| Brunsting-Perry Syndrome
|
BRN058
|
|
| Bruxism
|
BRX001
|
|
| Bruyn Scheltens Syndrome
|
BRY002
|
|
| Bscl2-Related Neurologic Disorders/seipinopathy
|
BSC002
|
|
| Bubonic Plague
|
BBN001
|
|
| Budd-Chiari Syndrome
|
BDD001
|
BDCHS
|
| Buerger Disease
|
BRG013
|
TAO
|
| Bulbar Polio
|
BLB003
|
|
| Bulbomembranous Urethral Cancer
|
BLB002
|
|
| Bulbospinal Muscular Atrophy of Adult
|
BLB006
|
|
| Bulbospinal Muscular Atrophy of Childhood
|
BLB007
|
|
| Bulbospinal Polio
|
BLB001
|
|
| Bulimia Nervosa
|
BLM002
|
BULN
|
| Bullous Diffuse Cutaneous Mastocytosis
|
BLL014
|
|
| Bullous Dystrophy Hereditary Macular Type
|
BLL009
|
EBM
|
| Bullous Impetigo
|
BLL012
|
|
| Bullous Keratopathy
|
BLL004
|
|
| Bullous Lichen Planus
|
BLL015
|
|
| Bullous Pemphigoid
|
BLL006
|
|
| Bullous Pyoderma Gangrenosum
|
BLL018
|
|
| Bullous Retinoschisis
|
BLL005
|
|
| Bullous Skin Disease
|
BLL007
|
|
| Bundle Branch Block, Familial Isolated Complete Right
|
BND019
|
|
| Bunion
|
BNN005
|
HV
|
| Burkitt Lymphoma
|
BRK010
|
BL
|
| Burn Goodship Syndrome
|
BRN059
|
|
| Burning Mouth Syndrome
|
BRN009
|
BMS
|
| Burn-Mckeown Syndrome
|
BRN062
|
BMKS
|
| Bursitis
|
BRS064
|
|
| Buruli Ulcer
|
BRL010
|
BUD
|
| Buschke Lowenstein Tumor
|
BSC003
|
GCBL
|
| Buschke-Ollendorff Syndrome
|
BSC001
|
BOS
|
| Bustos Simosa Pinto Cisternas Syndrome
|
BST005
|
ED4
|
| Butterfly-Shaped Pigment Dystrophy
|
BTT011
|
|
| Butyrylcholinesterase Deficiency
|
BTY001
|
BCHED
|
| Butyrylesterase 1
|
BTY002
|
|
| Byssinosis
|
BYS001
|
|
