| Diseases |
Alias |
|
| Hypophosphatasia, Infantile |
|
Infantile Hypophosphatasia
|
HPPI
|
|
Hops
|
Phosphoethanolaminuria
|
|
Perinatal Lethal Hypophosphatasia
|
Perinatal Lethal Rathbun Disease
|
|
Perinatal Lethal Phosphoethanolaminuria
|
Infantile Rathbun Disease
|
|
Infantile Phosphoethanolaminuria
|
Hypophosphatasia, Perinatal Lethal
|
|
|
| Hypophosphatasia, Childhood |
|
Childhood Hypophosphatasia
|
Childhood-Onset Hypophosphatasia
|
|
HPPC
|
Childhood-Onset Phosphoethanolaminuria
|
|
Childhood-Onset Rathburn Disease
|
Childhood-Onset Rathbun Disease
|
|
|
| Hypophosphatasia, Adult |
|
Adult Hypophosphatasia
|
Odontohypophosphatasia
|
|
Hypophosphatasia, Mild
|
HPPA
|
|
Hypophosphatasia
|
Mild Hypophosphatasia
|
|
Adult Rathbun Disease
|
Adult Phosphoethanolaminuria
|
|
HOPS
|
|
|
| Hypophosphatasia |
|
Phosphoethanolaminuria
|
Childhood Hypophosphatasia
|
|
Deficiency Of Alkaline Phosphatase
|
Hypophospatasia, Childhood
|
|
Hypophosphatasia Mild
|
Phosphoethanol-Aminuria
|
|
Rathburn Disease
|
Hpp
|
|
Rathbun Disease
|
Hypophosphatasia, Childhood
|
|
Infantile Hypophosphatasia
|
|
|
| Prenatal Benign Hypophosphatasia |
|
Prenatal Benign Rathbun Disease
|
Prenatal Benign Phosphoethanolaminuria
|
|
|
| Primary Bone Dysplasia |
|
Primary Osteodysplasia
|
Primary Skeletal Dysplasia
|
|
|
| Brittle Bone Disorder |
|
Osteogenesis Imperfecta
|
Brittle Bone Disease
|
|
Fragilitas Ossium
|
Osteopsathyrosis
|
|
Lobstein Disease
|
Oi
|
|
Vrolik Disease
|
Lobstein'S Disease
|
|
Lobstein'S Syndrome
|
Vrolik'S Disease
|
|
Porak And Durante Disease
|
Glass Bone Disease
|
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
Osteogenesis Imperfecta, Recessive Perinatal Lethal
|
|
Brittle Bone Syndrome
|
Oi - [Osteogenesis Imperfecta]
|
|
Ossium Fragility
|
Osteitis Fragilitans
|
|
Bony Fragility
|
Blue Sclera With Fragility Of Bone And Deafness
|
|
White Blue Sclera - Fragility Of Bone - Deafness
|
|
|
| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Osteomalacia |
|
|
| Rickets |
|
Vitamin D Deficiency
|
Vitamin D
|
|
Active Rickets
|
Hypovitaminosis D
|
|
Nutritional Rickets
|
Vitamin D Deficiency Disease
|
|
Vitamin-D Deficiency Rickets
|
Vitamin D-Dependent Rickets
|
|
Avitaminosis D
|
Infantile Osteomalacia
|
|
Juvenile Osteomalacia
|
|
|
| Bone Disease |
|
Bone Diseases
|
Skeletal Disease
|
|
Skeletal Disorder
|
Disorder Of Skeletal System
|
|
|
| Chondrocalcinosis |
|
Pseudogout
|
Calcium Pyrophosphate Deposition Disease
|
|
Familial Chondrocalcinosis
|
Chondrocalcinosis Nos
|
|
Cppd - [Calcium Pyrophosphate Deposition Disease]
|
Cpdd - [Calcium Pyrophosphate Deposition Disease]
|
|
Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site
|
Chondrocalcinosis, Cause Unspecified
|
|
Chondrocalcinosis Due To Pyrophosphate Crystals
|
Chondrocalcinosis Articularis
|
|
Calcium Pyrophosphate Arthritis And Periarthritis
|
|
|
| Periarthritis |
|
|
| Pseudoxanthoma Elasticum |
|
PXE
|
Gronblad-Strandberg Syndrome
|
|
Pseudoxanthoma Elasticum, Modifier Of Severity Of
|
Gronblad-Strandberg-Touraine Syndrome
|
|
Gronblad Strandberg Syndrome
|
Groenblad-Strandberg Syndrome
|
|
Nevus Elasticus
|
Pxe - [Pseudoxanthoma Elasticum]
|
|
|
| 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
|
|
|
| Hyperostosis |
|
Hypertrophy Of Bone
|
Bone Hypertrophy
|
|
Bone Thickening
|
Periosteum Thickening
|
|
|
| Arthropathy |
|
Ankylosis Of Ankle And Foot Joint
|
Ankylosis Of Forearm Joint
|
|
Ankylosis Of Hand Joint
|
Ankylosis Of Joint Of Ankle And/Or Foot
|
|
Ankylosis Of Joint Of Forearm
|
Ankylosis Of Joint Of Hand
|
|
Ankylosis Of Joint Of Lower Leg
|
Ankylosis Of Joint Of Multiple Sites
|
|
Ankylosis Of Joint Of Pelvic Region And Thigh
|
Ankylosis Of Joint Of Shoulder Region
|
|
Ankylosis Of Joint Of Upper Arm
|
Ankylosis Of Lower Leg Joint
|
|
Ankylosis Of Multiple Joints
|
Ankylosis Of Upper Arm Joint
|
|
Infectious Arthropathy
|
Joint Ankylosis Of The Ankle And Foot
|
|
Joint Ankylosis Of The Ankle And/Or Foot
|
Joint Ankylosis Of The Forearm
|
|
Joint Ankylosis Of The Hand
|
Joint Ankylosis Of The Lower Leg
|
|
Joint Ankylosis Of The Pelvic Region And Thigh
|
Joint Ankylosis Of The Shoulder Region
|
|
Joint Ankylosis Of The Upper Arm
|
Joint Diseases
|
|
Joint Disease
|
Arthropathy Associated With Infection
|
|
|
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Pnpo Deficiency
|
Pyridoxamine 5'-Phosphate Oxidase Deficiency
|
|
Pnpo-Related Neonatal Epileptic Encephalopathy
|
Pyridoxal Phosphate-Responsive Seizures
|
|
Pyridoxal 5'-Phosphate-Dependent Epilepsy
|
Pyridoxine-5'-Phosphate Oxidase Deficiency
|
|
PNPOD
|
Seizures, Pyridoxine-Resistant, Plp-Sensitive
|
|
Pyridoxal Phosphate-Dependent Seizures
|
Pyridoxamine 5'-Oxidase Deficiency
|
|
Epileptic Encephalopathy, Neonatal, Pnpo-Related
|
Pyridox Ine 5'-Phosphate Oxidase Deficiency
|
|
Deficiency, Pyridoxamine 5'-Phosphate Oxidase
|
|
|
| Calcification Of Joints And Arteries |
|
Hereditary Arterial And Articular Multiple Calcification Syndrome
|
CALJA
|
|
Arterial Calcification Due To Cd73 Deficiency
|
Arterial Calcification Due To Deficiency Of Cd73
|
|
Acdc
|
Arterial Calcification And Distal Joint Calcification
|
|
Arterial Calcification Due To Deficiency Of Cd73:Acdc
|
Calcification Of Joints And Arteries
|
|
Calja
|
|
|
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
EPVB6D
|
Early-Onset Vitamin B6-Dependent Epilepsy
|
|
|
| Osteomyelitis |
|
|
| Hyperprolinemia, Type Ii |
|
Hyperprolinemia Type 2
|
HYRPRO2
|
|
Hpii
|
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Hyperprolinemia Type Ii
|
1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Type 2 Hyperprolinemia
|
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
|
|
Hyperprolinemia 2
|
|
|
| Hypercementosis |
|
|
| Arterial Calcification Of Infancy |
|
Idiopathic Infantile Arterial Calcification
|
Generalized Arterial Calcification Of Infancy
|
|
Iiac
|
Occlusive Infantile Arteriopathy
|
|
Infantile Arteriosclerosis
|
Gaci
|
|
Idiopathic Obliterative Arteriopathy
|
Generalized Arterial Calcification In Infancy
|
|
Arteriopathia Calcificans Infantum
|
Diffuse Arterial Calcifying Elastopathy Of Infancy
|
|
Infantile Calcifying Arteriopathy
|
Medial Coronary Sclerosis Of Infancy
|
|
Coronary Sclerosis, Medial, Of Infancy
|
Calcification, Arterial, Generalized, Infancy
|
|
|
| Bursitis |
|
Bursitis, Not Otherwise Specified
|
Inflammation Of Bursa
|
|
|
| Microcephaly And Chorioretinopathy 1 |
|
|
| Meningioma, Familial |
|
Meningioma
|
Familial Meningioma
|
|
Meningioma, Familial, Susceptibility To
|
Meningeal Neoplasm
|
|
Meningeal Neoplasms
|
Meningiomas
|
|
Meningioma, Nf2-Related, Somatic
|
Meningioma, Sis-Related
|
|
Meningothelial Cell Tumor
|
Neoplasm Of The Meninges
|
|
Primary Meningeal Tumor
|
Familial Multiple Meningioma
|
|
MNGMA
|
Meningioma, Benign, No Icd-O Subtype
|
|
Intracranial Meningioma
|
Meningothelial Cell Neoplasm
|
|
Supratentorial Meningioma
|
Primary Neoplasm Of Spinal Meninges
|
|
Benign Intracranial Meningioma
|
Benign Meningioma
|
|
Meningeal Tumours
|
Meningeal Sarcoma Of Unspecified Site
|
|
Meningothelial Sarcoma Of Unspecified Site
|
|
|
| Osteoporosis |
|
Postmenopausal Osteoporosis
|
Osteoporosis, Postmenopausal
|
|
Bone Mineral Density Quantitative Trait Locus
|
Bmnd
|
|
Osteoporosis, Involutional
|
Osteoporosis, Susceptibility To
|
|
Osteoporosis, Postmenopausal, Susceptibility
|
Bone Mineral Density Variation Qtl, Osteoporosis
|
|
OSTEOP
|
Involutional Osteoporosis
|
|
Senile Osteoporosis
|
Osteoporosis Postmenopausal
|
|
Bone Mineral Density, Quantitative Trait Locus
|
Osteoporosis, Senile
|
|
Idiopathic Osteoporosis
|
Bone Rarefaction Nos
|
|
Type 1 Osteoporosis
|
|
|
| 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
|
|
|
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Craniometaphyseal Dysplasia
|
CMDD
|
|
Cmdj
|
Cmd
|
|
Autosomal Dominant Craniometaphyseal Dysplasia
|
Craniometaphyseal Dysplasia, Jackson Type
|
|
Craniometaphyseal Dysplasia Jackson Type
|
Autosomal Recessive Craniometaphyseal Dysplasia
|
|
Cmdr
|
Dysplasia, Craniometaphyseal, Autosomal Dominant
|
|
Craniometaphyseal Dysplasia, Autosomal Recessive Type
|
|
|
| Hypophosphatemic Rickets, X-Linked Dominant |
|
X-Linked Hypophosphatemia
|
Xlh
|
|
Vitamin D-Resistant Rickets, X-Linked
|
X-Linked Hypophosphatemic Rickets
|
|
XLHR
|
Hyp
|
|
Hypophosphatemic Vitamin D-Resistant Rickets
|
Hpdr
|
|
X-Linked Dominant Hypophosphatemic Rickets
|
Familial Hypophosphatemic Rickets
|
|
Hypophosphatemia, X-Linked
|
Hypophosphatemia, Vitamin D-Resistant Rickets
|
|
Hypophosphatemic Rickets X-Linked Dominant
|
X-Linked Vitamin D-Resistant Rickets
|
|
Hypophophatemia, X-Linked
|
Hypophophatemic Vitamin D-Resistant Rickets
|
|
Hypophosphatemia X-Linked
|
Vitamin D-Resistant Rickets X-Linked
|
|
Vitamin D-Resistant Rickets
|
Rickets, X-Linked Hypophosphatemic
|
|
|
| Chronic Kidney Disease |
|
Chronic Renal Disease
|
Chronic Kidney Failure
|
|
Ckd
|
Chronic Renal Failure
|
|
Kidney Failure, Chronic
|
Chronic Renal Failure Syndrome
|
|
Crf
|
Renal Failure - Chronic
|
|
Renal Failure Chronic
|
Chronic Kidney Diseases
|
|
Chronic Kidney Disease Stage 5
|
Ckd - [Chronic Kidney Disease]
|
|
Crf - [Chronic Renal Failure]
|
Chronic Kidney Impairment
|
|
Chronic Renal Impairment
|
Chronic Kidney Shutdown
|
|
Chronic Hypoxic Kidney Failure
|
Chronic Kidney Collapse
|
|
Chronic Renal Insufficiency
|
Chronic Kidney Toxaemia
|
|
Chronic Kidney Hypofunction
|
Chronic Renal Suppression
|
|
Chronic Renal Failure, Stage 5
|
Ckd - [Chronic Kidney Disease] Stage 5
|
|
End Stage Kidney Failure
|
End Stage Renal Failure
|
|
End Stage Kidney Disease
|
End Stage Renal Disease
|
|
End Stage Chronic Renal Failure
|
Esrf - [End Stage Renal Failure]
|
|
Esrd - [End Stage Renal Diseases]
|
Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
|
|
|
| Enthesopathy |
|
|
| Ankylosis |
|
|
| Phosphorus Metabolism Disease |
|
Phosphorus Metabolism Disorders
|
Disorder Of Phosphorus Metabolism
|
|
Phosphorus Disorder
|
Phosphorus Metabolism Disorder
|
|
|
| Osteogenesis Imperfecta, Type Ii |
|
Vrolik Type Of Osteogenesis Imperfecta
|
Osteogenesis Imperfecta Type 2
|
|
OI2
|
Oi, Type Ii
|
|
Osteogenesis Imperfecta Congenita
|
Oic
|
|
Osteogenesis Imperfecta Type Ii
|
Lethal Osteogenesis Imperfecta
|
|
Oi Type 2
|
Osteogenesis Imperfecta Congenita Perinatal Lethal Form
|
|
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form
|
Perinatal Lethal Osteogenesis Imperfecta Congenita
|
|
Perinatally Lethal Oi
|
Osteogenesis Imperfecta 2
|
|
Oi-Ii
|
Oi-Iia
|
|
Oi Type Iia
|
Osteogenesis Imperfecta Type Iia
|
|
Osteogenesis Imperfecta Type Ii Autosomal Dominant
|
Oi Type Ii
|
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
|
|
| Respiratory Failure |
|
Acute Respiratory Failure
|
Chronic Respiratory Failure
|
|
Respiratory Insufficiency
|
Acute-On-Chronic Respiratory Failure
|
|
Respiratory Disease
|
Acute And Chronic Respiratory Failure
|
|
Respiratory Insufficiency/Failure
|
Chronic Respiratory Disease
|
|
Pulmonary Valve Insufficiency
|
Chronic Disease Of Respiratory System
|
|
Respiration Disorders
|
Respiratory Tract Diseases
|
|
Lung Failure Nos
|
Pulmonary Failure
|
|
Arf - [Acute Respiratory Failure]
|
Acute Respiratory Insufficiency
|
|
Acute Pulmonary Insufficiency
|
Acute Respiration Failure
|
|
Chronic Respiration Failure
|
|
|
| Bone Remodeling Disease |
|
|
| Osteogenic Sarcoma |
|
Osteosarcoma
|
OSRC
|
|
Osteosarcoma, Somatic
|
Neoplasms, Bone Tissue
|
|
Bone Tissue Neoplasm
|
Osteoid Sarcoma
|
|
Skeletal Sarcoma
|
Osteosarcoma Of Bone
|
|
Bone Sarcoma
|
|
|
| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
|
PDE
|
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
|
EPD
|
Aasa Dehydrogenase Deficiency
|
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
|
Deficiency Of Glutamate Decarboxylase
|
|
|
| Osteoporosis, Juvenile |
|
Idiopathic Juvenile Osteoporosis
|
Idiopathic Osteoporosis
|
|
Juvenile Osteoporosis
|
Ijo
|
|
|
| Bone Development Disease |
|
|
