| Diseases |
Alias |
|
| Hypercalcemia, Infantile, 2 |
|
HCINF2
|
Hypercalcemia, Infantile, Type 2
|
|
|
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemic Nephrolithiasis/Osteoporosis 1
|
NPHLOP1
|
|
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
|
Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
|
|
|
| Fanconi Renotubular Syndrome 2 |
|
FRTS2
|
Fanconi Renotubular Syndrome, Type 2
|
|
|
| Idiopathic Infantile Hypercalcemia |
|
Autosomal Recessive Infantile Hypercalcemia
|
Iih
|
|
Vitamin D Hypersensitivity
|
Familial Infantile Hypercalcemia With Suppressed Intact Parathyroid Hormone
|
|
|
| Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis |
|
|
| Angioedema, Hereditary, 3 |
|
Angioedema, Hereditary, Type Iii
|
Hereditary Angioedema Type Iii
|
|
Hereditary Angioedema Type 3
|
HAE3
|
|
Estrogen-Related Hae
|
Estrogen-Sensitive Hae
|
|
Angioneurotic Edema, Hereditary, With Normal C1 Inhibitor Concentration And Function
|
Hae With Normal C1 Inhibitor Concentration And Function
|
|
Hereditary Angioedema With Normal C1 Inhibitor Activity
|
F12-Related Hereditary Angioedema With Normal C1inh
|
|
F12-Related Hae With Normal C1 Inhibitor
|
Hae 3
|
|
Hae-Iii
|
Hereditary Angioneurotic Edema Type 3
|
|
Inherited Estrogen-Associated Angioedema
|
Inherited Estrogen-Associated Angioneurotic Edema
|
|
Inherited Estrogen-Dependent Angioedema
|
Inherited Estrogen-Dependent Angioneurotic Edema
|
|
Angioneurotic Edema Hereditary With Normal C1 Inhibitor Concentration And Function
|
Hereditary Angioedema With Normal C1 Esterase Inhibitor Activity
|
|
|
| Urticaria |
|
Nettle Rash
|
Hives
|
|
Wheal
|
Urticaria Nos
|
|
|
| Angioedema |
|
Angioneurotic Oedema
|
Quincke'S Edema
|
|
Angioneurotic Edema
|
Giant Urticaria
|
|
|
| Factor Xii Deficiency |
|
Hageman Factor Deficiency
|
Haf Deficiency
|
|
Factor Xii Deficiency Disease
|
F12 Deficiency
|
|
Deficiency, Hageman
|
Coagulation Factor 12 Deficiency
|
|
Factor 12 Deficiency
|
Congenital Factor Xii Deficiency
|
|
Congenital Hageman Factor Deficiency
|
FA12D
|
|
Factor Xii
|
Deficiency, Factor Xii
|
|
|
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hereditary Hypophosphatemic Rickets With Hypercalciuria
|
HHRH
|
|
Hypophosphatemic Rickets With Hypercalciuria
|
Hypercalciuric Rickets
|
|
|
| Angioedema, Hereditary, 1 |
|
Hereditary Angioedema Type I
|
Hereditary Angioneurotic Edema
|
|
Hane
|
C1 Esterase Inhibitor Deficiency
|
|
Angioedema, Hereditary, 1 And 2
|
HAE1
|
|
Angioneurotic Edema, Hereditary
|
Angioedema, Hereditary, Type I
|
|
Hereditary Angioedema Type 2
|
Hae 2
|
|
Hae-Ii
|
Hereditary Angioneurotic Edema Type 2
|
|
Angioedema, Hereditary
|
HAE
|
|
Angioedema, Hereditary, Types I And Ii
|
Hereditary Angioedema, Type Ii
|
|
Angioedema, Hereditary, Type 1
|
Angioedemas, Hereditary
|
|
Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor
|
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor
|
|
Hereditary Angioedema Types I And Ii
|
|
|
| Hereditary Angioedema |
|
Hereditary Angioneurotic Edema
|
Hereditary Angioedema Type 1
|
|
Hane
|
Angioedema, Hereditary
|
|
Hae
|
Angioedemas, Hereditary
|
|
Deficiency Of C1 Esterase Inhibitor
|
C1 Esterase Inhibitor Deficiency
|
|
C1 Inhibitor Deficiency
|
Familial Angioneurotic Edema
|
|
Hereditary Bradykinine-Induced Angioedema
|
Hereditary Non Histamine-Induced Angioedema
|
|
Hae 1
|
Hae-I
|
|
Hereditary Angioneurotic Edema Type 1
|
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor
|
|
Hereditary Angioedema Types I And Ii
|
Hereditary Angioneurotic Oedema
|
|
Familial Angioedema
|
Hae - [Hereditary Angioneurotic Oedema]
|
|
Bannister Disease, Hereditary
|
Quincke Disease Or Oedema
|
|
Hereditary Quincke Oedema
|
|
|
| Fanconi Syndrome |
|
Infantile Nephropathic Cystinosis
|
Adult Fanconi Syndrome
|
|
Congenital Fanconi Syndrome
|
De Toni-Fanconi Syndrome
|
|
Fanconi-De Toni Syndrome
|
Lignac-Fanconi Syndrome
|
|
Fanconi Renotubular Syndrome
|
Primary Fanconi Renotubular Syndrome
|
|
De Toni-Debre-Fanconi Syndrome
|
Adult Fanconi Anemia
|
|
Detoni Fanconi Syndrome
|
Fanconi-De-Toni Syndrome
|
|
Primary Fanconi Syndrome
|
Detoni-Debre-Fanconi Syndrome
|
|
Primary Fanconi Renal Syndrome
|
Fanconi Anemia
|
|
Cystinosis, Infantile Nephropathic
|
Fanconi-Bickel Syndrome
|
|
Renal Fanconi Syndrome
|
Lowe-Bickel Syndrome
|
|
|
| Hypertension, Essential |
|
Essential Hypertension
|
Hypertension
|
|
High Blood Pressure
|
Hypertension, Essential, Susceptibility To
|
|
Hypertensive Disease
|
Primary Hypertension
|
|
EHT
|
Hypertension, Salt-Sensitive Essential, Susceptibility To
|
|
Hyperpiesia
|
Idiopathic Hypertension
|
|
Hypertensive Disorder
|
Hypertension, Essential, Susceptibility To, 3
|
|
Hypertension, Essential 3
|
Hypertension, Essential, Salt-Sensitive
|
|
Hypertension, Essential, Susceptibility To, 6
|
Hypertension, Essential 6
|
|
Hypertension, Salt-Sensitive Essential
|
Hypertension, Susceptibility To
|
|
Hypertension, Essential, Susceptibility To, 4
|
Hypertension, Essential 4
|
|
Hypertension, Essential, Susceptibility To, 2
|
Hypertension, Essential 2
|
|
Hypertension, Essential, Susceptibility To, 1
|
Hypertension, Essential 1
|
|
Hypertension, Essential, Susceptibility To, 5
|
Hypertension, Essential 5
|
|
Htn
|
Vascular Hypertensive Disorder
|
|
Systemic Primary Arterial Hypertension
|
Hbp - [High Blood Pressure]
|
|
Systemic Arterial Hypertensive Disorder
|
Elevated Blood Pressure
|
|
Arterial Hypertension Nos
|
Hypertension Nos
|
|
Benign Hypertension
|
Systemic Arterial Hypertension
|
|
Systemic Hypertension
|
Artery Htn
|
|
Benign Htn
|
Vascular Htn
|
|
Vascular Hypertension
|
Cholesterol Hypertension
|
|
Cholesterol Htn
|
Idiopathic Htn
|
|
Malignant Hypertension
|
Malignant Htn
|
|
Raised Blood Pressure
|
Cardiovascular Hypertension
|
|
Primary Htn - [Hypertension]
|
High Arterial Tension
|
|
High Blood Pressure Disorder
|
Ht - [Hypertension]
|
|
Htn - [Hypertension]
|
Hypertensive Vascular Disease
|
|
Hypertensive Vascular Degeneration
|
|
|
| Bilirubin Metabolic Disorder |
|
Hyperbilirubinemia
|
Hereditary Hyperbilirubinemia
|
|
Hyperbilirubinemia, Hereditary
|
Hyperbilirubinaemia
|
|
|
| Nephrolithiasis |
|
Kidney Stones
|
Stone - Kidney/Ureter
|
|
Kidney Calculi
|
|
|
| Nephrocalcinosis |
|
Hypercalcemic Nephropathy
|
|
|
| Hypophosphatemia |
|
Vitamin D-Resistant Rickets
|
Hereditary Hypophosphatemic Rickets
|
|
Vdrr
|
Vitamin D Resistant Rickets
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Familial Hypophosphatemic Rickets
|
|
|
| Hypercalcemia, Infantile, 1 |
|
HCINF1
|
Infantile Hypercalcemia
|
|
Hypercalcemia
|
Hypercalcemia, Idiopathic, Of Infancy
|
|
Hypercalcemia Infantile
|
Idiopathic Hypercalcemia Of Infancy
|
|
Hypercalcemia, Infantile
|
Hypercalcemia, Infantile, Type 1
|
|
|
| Hyperphosphatemia |
|
|
| 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
|
|
|
| Hypophosphatemic Nephrolithiasis/Osteoporosis |
|
Nephrolithiasis/Osteoporosis, Hypophosphatemic
|
|
|
| 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
|
|
|
| Osteogenesis Imperfecta, Type Iii |
|
Osteogenesis Imperfecta Type Iii
|
OI3
|
|
Oi, Type Iii
|
Osteogenesis Imperfecta Type 3
|
|
Oi Type Iii
|
Oi Type 3
|
|
Progressive Deforming Osteogenesis Imperfecta
|
Severe Osteogenesis Imperfecta
|
|
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae
|
Progressively Deforming Osteogenesis Imperfecta With Normal Sclera
|
|
Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae
|
Progressively Deforming Oi
|
|
Osteogenesis Imperfecta 3
|
Oi-Iii
|
|
Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
|
|
|
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic Rickets
|
X-Linked Recessive Hypophosphatemic Rickets
|
|
XLRHR
|
Hypophosphatemic Rickets Disorders
|
|
Rickets Hypophosphatemic
|
Rickets, Hypophosphatemic, X-Linked Recessive
|
|
Familial Hypophosphatemic Rickets
|
|
|
| Pulmonary Alveolar Microlithiasis |
|
|
| Sotos Syndrome |
|
Cerebral Gigantism
|
SOTOS
|
|
Chromosome 5q35 Deletion Syndrome
|
Sotos Syndrome 1, Formerly
|
|
Sotos1, Formerly
|
Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
|
|
Sotos Sequence
|
Sotos' Syndrome
|
|
Sotos1
|
Sotos Syndrome 1
|
|
|
| Fanconi Renotubular Syndrome 1 |
|
Renal Fanconi Syndrome
|
Adult Fanconi Syndrome
|
|
FRTS1
|
Fanconi Renotubular Syndrome
|
|
Frts
|
Rfs
|
|
Fanconi Syndrome Without Cystinosis
|
Luder-Sheldon Syndrome
|
|
|
| Osteomalacia |
|
|
| Nephrolithiasis, Calcium Oxalate |
|
Kidney Stones
|
Calculus Of Kidney
|
|
Kidney Calculi
|
Nephrolithiasis
|
|
Renal Calculi
|
Calcium Oxalate Urolithiasis
|
|
CAON
|
Urolithiasis, Calcium Oxalate
|
|
Calcium Oxalate Nephrolithiasis
|
Kidney Stone
|
|
Nephrolith
|
Renal Calculus
|
|
Urinary Stones
|
Renal Stone
|
|
Calculus, Kidney
|
Calculus, Renal
|
|
Renal Lithiasis
|
Renal Stones
|
|
Urolithiasis
|
Renal Calculus Or Stone
|
|
Stone In Kidney
|
Nephritic Calculus
|
|
Multiple Kidney Calculi
|
Multiple Kidney Calculus
|
|
Nephrolithiasis Nos
|
Pelvic Nephrolithiasis
|
|
Pelviolithiasis
|
Pelvis Nephrolithiasis
|
|
|
| Vitamin D Hydroxylation-Deficient Rickets, Type 1b |
|
VDDR1B
|
Vitamin D-Dependent Rickets Type 1b
|
|
Vitamin D-Dependent Rickets, Type 1b
|
25-Hydroxyvitamin D3 Deficiency, Selective
|
|
Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency
|
Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency
|
|
Rickets Vitamin D-Dependent 1b
|
25-Hydroxyvitamimn D3 Deficiency Selective
|
|
25-Hydroxyvitamin D(3) Deficiency
|
Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency
|
|
Selective 25-Hydroxyvitamin D(3) Deficiency
|
Rickets Due To Defect In Vitamin D 25-Hydroxylation
|
|
|
| Phosphorus Metabolism Disease |
|
Phosphorus Metabolism Disorders
|
Disorder Of Phosphorus Metabolism
|
|
Phosphorus Disorder
|
Phosphorus Metabolism Disorder
|
|
|
| Dent Disease 1 |
|
Dent Disease
|
Dent'S Disease
|
|
Dent Disease 2
|
Dent Disease Type 1
|
|
DENT1
|
Urolithiasis, Hypercalciuric, X-Linked
|
|
Nephrolithiasis 2
|
Nphl2
|
|
Dent Syndrome
|
Dents Disease
|
|
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis
|
Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
|
|
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets
|
X-Linked Recessive Nephrolithiasis
|
|
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones
|
Nephrolithiasis, Hypercalciuric, X-Linked
|
|
Nephrolithiasis-Hypercalciuria X-Linked Recessive
|
Nephrolithiasis, X-Linked Recessive
|
|
Dent Disease, Type 1
|
|
|
| Vitamin D-Dependent Rickets |
|
|
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Metaphyseal Chondrodysplasia, Murk Jansen Type
|
Jansen'S Metaphyseal Chondrodysplasia
|
|
MCDJ
|
Murk Jansen Type Metaphyseal Chondrodysplasia
|
|
Jansen Type Metaphyseal Chondrodysplasia
|
Jansen Disease
|
|
Jansen Metaphyseal Chondrodysplasia
|
Jansen Metaphyseal Dysostosis
|
|
Metaphyseal Chondrodysplasia Murk Jansen Type
|
Chondrodysplasia, Metaphyseal, Murk Jansen Type
|
|
|
| Aminoaciduria |
|
|
| 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
|
|
|
| Autosomal Recessive Hypophosphatemic Rickets |
|
Arhr
|
Hypophosphatemic Rickets, Autosomal Recessive
|
|
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
|
|
|
| Dental Abscess |
|
|
| Mineral Metabolism Disease |
|
Mineral Metabolism Disorder
|
Disorder Of Mineral Metabolism
|
|
|
| Cystinuria |
|
CSNU
|
Cystinuria Type B
|
|
Cystinuria Type A
|
Cystinuria, Type I, Formerly
|
|
Csnu1, Formerly
|
Cystinuria, Type Ii, Formerly
|
|
Cystinuria, Type Iii, Formerly
|
Csnu3, Formerly
|
|
Cystinuria, Type Non-I, Formerly
|
Cystinuria-Lysinuria
|
|
Cystinuria-Lysinuria Syndrome
|
Csnu1
|
|
Csnu3
|
Cystinuria 1
|
|
Cystinuria Type A/B
|
Cystinuria Type I
|
|
Cystinuria Type Ii
|
Cystinuria Type Iii
|
|
Cystinuria Type Non-I
|
Cystinuria, Type A/B
|
|
Cystinuria Type 1
|
Cystinuria - Lysinuria
|
|
Csnu - [Cystinuria]
|
Cystine Disease
|
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
