PTH - parathyroid hormone Gene

Also Known as FIH1; PTH1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 5741

About PTH

Cytogenetic location: 11p15.3 Genomic coordinates (GRCh38): 11:13,492,054-13,496,181 (from NCBI)

This gene has 2 transcripts (splice variants), 176 orthologues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the Other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

PTH Products (2)

mRNA	Protein	Name
NM_000315.4	NP_000306.1	parathyroid hormone isoform 1 preproprotein
NM_001316352.2	NP_001303281.1	parathyroid hormone isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables hormone activity	IMP IMP: Inferred from mutant phenotype	11604398	GOA
enables peptide hormone receptor binding	IDA IDA: Inferred from direct assay	19674967	GOA
enables peptide hormone receptor binding	IMP IMP: Inferred from mutant phenotype	11604398	GOA
enables protein binding	IMP IMP: Inferred from mutant phenotype	11604398	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19674967	GOA
enables receptor ligand activity	IMP IMP: Inferred from mutant phenotype	11604398	GOA
enables type 1 parathyroid hormone receptor binding	IMP IMP: Inferred from mutant phenotype	11604398	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	11604398	GOA
acts upstream of or within macromolecule biosynthetic process	IDA IDA: Inferred from direct assay	19723499	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	17696759	GOA
involved in positive regulation of D-glucose import	IDA IDA: Inferred from direct assay	21076856	GOA
involved in positive regulation of bone mineralization	IDA IDA: Inferred from direct assay	17696759	GOA
involved in positive regulation of glycogen biosynthetic process	IDA IDA: Inferred from direct assay	21076856	GOA
involved in positive regulation of inositol phosphate biosynthetic process	IMP IMP: Inferred from mutant phenotype	11604398	GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	19723499	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTH Protein Structure

Parathyroid

0
100
115 a.a.

Protein Preferred Names	Protein Names
parathyroid hormone	parathormone

PTH Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	PTH	P01270	ASPH	Homo sapiens	Q12797-6	Validated Y2H	32296183
Intra	PTH	P01270	PTH1R	Homo sapiens	Q03431	BLI	19674967

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PTH Proteins

製品番号	製品名	アクセッション番号	純度
HY-P7112	PTH Protein, Human	P01270 (S32-Q115)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P71060	PTH Protein, Human (HEK293, His)	P01270 (S32-Q115)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P73686	PTH Protein, Human (GST)	P01270 (S32-F65)	≥ 95%, as determined by reducing SDS-PAGE.

PTH 抗体

製品番号	製品名	アプリケーション	反応性
HY-P83905	Parathyroid Hormone Antibody (YA3602)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P83905A	Parathyroid Hormone Antibody (YA3602)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P85339	Parathyroid Hormone Antibody (YA5031)	WB; IHC-P; IHC-F; IF-Tissue	Human
HY-P86009	Parathyroid Hormone Antibody (YA5701)	IHC-P, ICC/IF, ELISA	Human

関連疾患

Diseases	Alias
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Familial Isolated 1 FIH1 Familial Isolated Hypoparathyroidism Due To Impaired Pth Secretion Hypoparathyroidism, Familial Isolated, Type 1
Familial Isolated Hypoparathyroidism	Fih
Primary Hyperparathyroidism	Familial Primary Hyperparathyroidism Hyperparathyroidism, Primary Hyperparathyroidism Primary Hypocalciuric Hypercalcemia, Familial, Type 1 Familial Benign Hypercalcemia Familial Hyperparathyroidism Parathyroid Enlargement
Hypoparathyroidism	Hypoparathyroidism, Idiopathic Parathyroid, Underactivity Of Syndrome With Hypoparathyroidism Deficiency Of Parathyroid Hormone Parathyroid Gland Insufficiency Parathyroid Insufficiency Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
Renal Osteodystrophy	Renal Rickets Chronic Kidney Disease-Mineral And Bone Disorder
Parathyroid Gland Disease	Parathyroid Diseases Disease Of Parathyroid Glands Parathyroid Disease
Parathyroid Carcinoma	Parathyroid Cancer Parathyroid Neoplasms Malignant Tumor Of Parathyroid Gland PRTC Carcinoma Of Parathyroid Gland Malignant Neoplasm Of Parathyroid Gland Parathyroid Gland Adenocarcinoma Parathyroid Gland Cancer Parathyroid Neoplasm Parathyroid Gland Carcinoma Malignant Neoplasm Of The Parathyroid Neoplasm Of Parathyroid Gland Parathyroid Gland Neoplasm Cancer Of The Parathyroid Cancer Of The Parathyroid Gland Malignant Neoplasm Of Parathyroid Malignant Parathyroid Gland Neoplasm Malignant Parathyroid Gland Tumor Malignant Parathyroid Neoplasm Malignant Parathyroid Tumor Malignant Tumor Of Parathyroid Parathyroid Adenocarcinoma Neoplasm Of The Parathyroid Gland Carcinoma, Parathyroid
Hyperparathyroidism	Hyperparathyroidism And Other Disorders Of Parathyroid Gland Parathyroid Hyperfunction Hpth - [Hyperparathyroidism] Parathyroid Gland Hyperfunction Parathyroid Glandular Hyperfunction
Secondary Hyperparathyroidism	Hyperparathyroidism Secondary Hyperparathyroidism, Secondary Secondary Hyperparathyroidism Nec
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
Osteitis Fibrosa	Osteitis Fibrosa Cystica Hyperparathyroid Bone Disease Osteitis Fibrosa Cystica Generalisata Von Recklinghausen'S Bone Disease Osteitis Fibrosa Disseminata
Pseudohypoparathyroidism	Familial Pseudohypoparathyroidism Parathyroid Hormone Resistant Hypoparathyroidism Php - [Pseudohypoparathyroidism] Constitutional Chronic Hypocalcaemia
Parathyroid Adenoma	Adenoma Of Parathyroid Adenoma Of The Parathyroid Gland Parathyroid Gland Adenoma
Hypocalcemia, Autosomal Dominant 1	Autosomal Dominant Hypocalcemia Autosomal Dominant Hypocalcemia 1 HYPOC1 Hypocalcemia, Autosomal Dominant Hypercalciuric Hypocalcemia Hypocalcemia, Autosomal Dominant, With Bartter Syndrome Familial Hypocalcemia Hypocalcemia, Familial Hypoc Adh Autosomal Dominant Hypoparathyroidism Familial Hypercalciuric Hypocalcemia Ad Hypocalcemia Autosomal Dominant Hypocalcemia With Bartter Syndrome Hypoparathyroidism - Autosomal Dominant Hypocalcemia
Uremia	Uremia Of Renal Origin
Hypophosphatemia	Vitamin D-Resistant Rickets Hereditary Hypophosphatemic Rickets Vdrr Vitamin D Resistant Rickets Hypophosphatemic Rickets, X-Linked Dominant Familial Hypophosphatemic Rickets
Hypervitaminosis D	Vitamin D Hyperalimentation
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
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
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Osteonecrosis	Bone Necrosis Avascular Necrosis Of Bone Aseptic Necrosis Necrosis Of Bone Nos Aseptic Osteonecrosis Aseptic Necrosis Of Bone, Site Unspecified Aseptic Or Avascular Bone Necrosis Aseptic Necrosis Of Bone Necrotic Bone Necrotizing Bone Spontaneous Osteonecrosis Osteoradionecrosis
Chief Cell Adenoma	Chief Cell Adenoma Of Parathyroid Gland
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism Type 1b PHP1B Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Type Ib Php Ib Pseudohypoparathyroidism 1b
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
Substernal Goiter	Retrosternal Thyroid Goiter Retrosternal Thyroid Goitre Substernal Goitre Goiter, Substernal
Uremic Neuropathy
Secondary Hyperparathyroidism Of Renal Origin	Hyperparathyroidism Due To Renal Insufficiency Hyperparathyroidism, Secondary
Jaccoud'S Syndrome	Jaccoud Syndrome
Bone Remodeling Disease
Pseudohypoparathyroidism, Type Ia	Albright'S Hereditary Osteodystrophy Albright Hereditary Osteodystrophy Pseudohypoparathyroidism Type 1a PHP1A Albright Hereditary Osteodystrophy With Multiple Hormone Resistance Pseudohypoparathyroidism Ia AHO Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy Pseudo-Pseudohypoparathyroidism Pseudohypoparathyroidism Type I A Php Ia Pseudopseudohypoparathyroidism Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance Pphp Pseudopseudo-Hypoparathyroidism Aho-Php Syndrome Ia Albright Hereditary Osteodystrophy-Php Syndrome Ia Pseudohypoparathyroidism 1a Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism	PPHP Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance Normocalcemic Pseudohypoparathyroidism Aho-Pphp Syndrome Albright Hereditary Osteodystrophy-Pphp Syndrome Pseudohypoparathyroidism
Osteomalacia	Adult Rickets
Tetanic Cataract	Hypocalcaemic Cataract
Lipoadenoma
Familial Hypocalciuric Hypercalcemia	Familial Benign Hypercalcemia Fbh Fbhh Fhh Familial Benign Hypocalciuric Hypercalcemia Hypocalciuric Hypercalcemia, Familial, Type 1
Hypercalcemia, Infantile, 1	HCINF1 Infantile Hypercalcemia Hypercalcemia Hypercalcemia, Idiopathic, Of Infancy Hypercalcemia Infantile Idiopathic Hypercalcemia Of Infancy Hypercalcemia, Infantile Hypercalcemia, Infantile, Type 1
Bone Resorption Disease	Bone Resorption
Water-Clear Cell Adenoma
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
Glucocorticoid-Induced Osteoporosis	Steroid-Induced Osteoporosis
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
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
Vitamin D-Dependent Rickets	Vddr
Multiple Endocrine Neoplasia, Type Iia	Multiple Endocrine Neoplasia Type 2a Sipple Syndrome Multiple Endocrine Neoplasia Type 2 MEN2A Men2 Ptc Syndrome Multiple Endocrine Neoplasia, Type 2 Multiple Endocrine Neoplasia Iia Men 2a Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia, Type 2a Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia Ii Men2 Syndrome Men-2a Syndrome Multiple Neoplasia 2a Multiple Neoplasia Type 2
Hyperthyroidism	Overactive Thyroid
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Parathyroid Transitional Clear Cell Adenoma	Clear Cell Adenoma Of The Parathyroid
Combined Oxidative Phosphorylation Deficiency 40	COXPD40 Qrsl1-Related Coxpd Qrsl1-Related Combined Oxidative Phosphorylation Defect
Hypothyroidism, Congenital, Nongoitrous, 1	Tsh Resistance CHNG1 Hypothyroidism Due To Tsh Receptor Mutations Thyrotropin Resistance Thyroid-Stimulating Hormone Rtsh Hypothyroidism Due To Unresponsiveness To Thyrotropin Congenital Nongoitrous Hypothyroidism 1 Thyroid-Stimulating Hormone, Resistance To Hypothyroidism, Nonautoimmune Hypothyroidism, Congenital, Due To Tsh Resistance Hypothyroidism, Congenital, Non-Goitrous, 1 Congenital Hypothyroidism Due To Tsh Resistance Non-Autoimmune Hypothyroidism Thyroid-Stimulating Hormone Resistance Hypothyroidism, Congenital, Nongoitrous, Type 1 Hypothyroidism, Congenital, Nongoitrous, 3 Thyroid Hormone Resistance Syndrome
Postsurgical Hypothyroidism	Postoperative Hypothyroidism Post-Surgical Hypothyroidism
Multiple Endocrine Neoplasia	Men Multiple Endocrine Adenomatosis Multiple Endocrine Neoplasia Syndrome Adenomatosis, Familial Endocrine Endocrine Neoplasia, Multiple Familial Endocrine Adenomatosis Mea Multiple Endocrine Neoplasms Multiple Endocrine Neoplasia Type 1
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hereditary Hypophosphatemic Rickets With Hypercalciuria HHRH Hypophosphatemic Rickets With Hypercalciuria Hypercalciuric Rickets
Hyperprolactinemia	Chiari-Frommel Syndrome Hyperprolactinaemia Familial Hyperprolactinemia HPRL Pregnancy-Related A-G Syndrome Familial Isolated Prolactin Receptor Deficiency
Calciphylaxis	Idiopathic Calciphylaxis
Endocrine Organ Benign Neoplasm
Eiken Syndrome	Eiken Skeletal Dysplasia Bone Modeling Defect Of Hands And Feet EKNS
Hypophosphatasia, Adult	Adult Hypophosphatasia Odontohypophosphatasia Hypophosphatasia, Mild HPPA Hypophosphatasia Mild Hypophosphatasia Adult Rathbun Disease Adult Phosphoethanolaminuria HOPS
Short Bowel Syndrome	Short Gut Syndrome Acquired Short Bowel Syndrome Secondary Short Bowel Syndrome Short Bowel Nos
Multiple Endocrine Neoplasia, Type I	Multiple Endocrine Neoplasia Type 1 MEN1 Wermer Syndrome Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type 1 Men I Endocrine Adenomatosis, Multiple Mea I Men Type I Wermer'S Syndrome Men1 Syndrome Multiple Endocrine Adenomatosis Endocrine Adenomatosis Multiple Men 1 Familial Multiple Endocrine Neoplasia Type I Neoplasia, Endocrine, Multiple, Type 1 Multiple Endocrine Neoplasia
Vitamin D Hydroxylation-Deficient Rickets, Type 1a	Vitamin D-Dependent Rickets, Type 1a Vitamin D-Dependent Rickets, Type 1 VDDR1A 25-Hydroxycholecalciferol-1-Hydroxylase Deficiency 1-Alpha-Hydroxylase Deficiency Vdd1 Pddr1a Pddr Ia Vitamin D-Dependent Rickets, Type I Vitamin D-Dependent Rickets Type 1a 1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective Vitamin D Dependency, Type 1 Pseudovitamin D-Deficiency Rickets, Type Ia Rickets Vitamin D-Dependent 1a 1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective Pddr Pseudovitamin D Deficiency Rickets Pseudovitamin D-Deficiency Rickets Type Ia Vitamin D Dependency Type 1
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Hypoparathyroidism-Deafness-Renal Disease Syndrome	Barakat Syndrome Hypoparathyroidism, Deafness, Renal Disease Syndrome Hdr Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hypocalciuric Hypercalcemia, Familial, Type I	HHC1 Familial Hypocalciuric Hypercalcemia 1 Fhh1 Familial Benign Hypercalcemia 1 Fbh1 Hypocalciuric Hypercalcemia, Type I Fhh Type 1 Hhc Fhh Hypercalcemia, Familial Benign Hypocalciuric Hypercalcemia Type I Familial Hypocalciuric Hypercalcemia Type 1 Hypocalciuric Hypercalcemia, Familial, Type 1 Familial Hypocalciuric Hypercalcemia Type I Familial Benign Hypercalcemia Type 1 Hypercalcemia, Familial Benign Type 1 Hypocalciuric Hypercalcemia, Familial 1 Familial Benign Hypocalciuric Hypercalcemia 1 Fbhh1
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
Ossifying Fibroma	Peripheral Ossifying Fibroma Fibro-Osteoma Fibroma Ossifying Fibroma, Ossifying
Hyperuricemia	Blood Urate Raized Uricacidemia
Giant Cell Reparative Granuloma	Central Giant Cell Granuloma Central Giant Cell Reparative Granuloma Of Jaw Central Giant Cell Granuloma Granuloma, Giant Cell Granuloma, Giant Cell Reparative Giant Cell Lesion Of Small Bones Giant Cell Granuloma, Nos
Ureterolithiasis	Calculus Of Ureter Ureteric Stone Ureteral Calculi Ureteric Calculus Stone In The Ureter Ureter Calculi Ureteral Calculus Or Stone Ureterolith Ureterolithiasis Nos
Dental Abscess
Childhood Ovarian Dysgerminoma	Pediatric Ovarian Dysgerminoma
Childhood Ovarian Germ Cell Tumor	Pediatric Ovarian Germ Cell Tumor Paediatric Ovarian Germ Cell Neoplasm Paediatric Ovarian Germ Cell Tumour Pediatric Ovarian Germ Cell Neoplasm
Restless Legs Syndrome	Wed Willis-Ekbom Disease Restless Leg Syndrome Ekbom Syndrome Wittmaack-Ekbom Syndrome Willis Ekbom Disease Ekbom'S Syndrome Rls Restless Legs Restless Legs Syndrome, Susceptibility To
Hypophosphatemic Rickets, Autosomal Dominant	Autosomal Dominant Hypophosphatemic Rickets ADHR Autosomal Dominant Hypophosphatemia Vitamin D-Resistant Rickets, Autosomal Dominant Hypophosphatemia, Autosomal Dominant Autosomal Dominant Vitamin D-Resistant Rickets Rickets, Hypophosphatemic, Autosomal Dominant
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Enthesopathy	Rheumatism
Bone Benign Neoplasm
Ischemic Bone Disease
Mammary Paget'S Disease	Paget'S Disease Mammary Paget Disease Paget'S Disease Of The Breast Paget Disease Of The Breast Paget'S Disease Of The Nipple Paget'S Disease, Mammary Paget Cell Neoplasm Paget Disease Of The Nipple Pagets Disease Mammary Osteitis Deformans
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Kenny-Caffey Syndrome	Kenny Syndrome
Graves Disease 1	Thyrotoxicosis Graves Disease, Susceptibility To, 1 GRD1 Grd Hyperthyroidism, Autoimmune Hyperthyroidism Hyperactive Thyroid Gland Overactive Thyroid Toxic Diffuse Goitre Toxic Primary Thyroid Hyperplasia Stokes Disease Thyrotoxicosis With Goitre Thyrotoxicosis Struma Graves Disease Goitre With Hyperthyroidism Basedow Disease Exophthalmic Goitre Exophthalmic Struma Flajani Disease Graves Disease With Exophthalmos Hyperthyroid Goitre Hyperthyroidism Struma Thyroid Exophthalmos Malignant Exophthalmos Parry Disease Toxic Diffuse Goitre With Exophthalmos Toxic Goitre Toxic Goitre Nos Thyrotoxicosis Due To Uninodular Goitre Toxic Thyroid Nodule Toxic Uninodular Goitre Uninodular Toxic Struma Uninodular Toxic Struma With Hyperthyroidism Thyrotoxicosis Due To Single Thyroid Nodule Toxic Uninodular Goitre With Hyperthyroidism Hyperthyroidism With Thyroid Nodule Thyrotoxicosis With Toxic Uninodular Goitre Uninodular Goitre In Hyperthyroidism Uninodular Goitre In Thyrotoxicosis Toxic Multinodular Goitre Multinodular Goitre With Thyrotoxicosis Thyrotoxicosis Nodular Goitre Nodular Goitre With Thyrotoxicosis Adenomatous Goitre With Hyperthyroidism Multinodular Goitre With Hyperthyroidism Nodular Goitre With Hyperthyroidism Nodular Struma With Hyperthyroidism Plummer Disease Thyrotoxicosis Adenomatous Goitre Thyrotoxicosis Adenomatous Struma Toxic Adenomatous Goitre Toxic Adenomatous Struma Toxic Nodular Goitre Nos Toxic Struma Nodosa Toxic Nodular Struma
Axial Osteomalacia	Atypical Osteomalacia Involving The Axial Skeleton
Autosomal Recessive Hypophosphatemic Rickets	Arhr Hypophosphatemic Rickets, Autosomal Recessive Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
Primary Hypomagnesemia	Familial Primary Hypomagnesemia Homg Primary Familial Hypomagnesemia Genetic Primary Hypomagnesemia Hypomagnesemia 1, Intestinal
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemic Familial Tumoral Calcinosis Hftc Hyperostosis-Hyperphosphatemia Syndrome Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome Tumoral Calcinosis, Hyperphosphatemic, Familial Phptc Lipocalcinogranulomatosis Morbus Teutschlaender Hhs Hyperostosis With Hyperphosphatemia Cortical Hyperostosis With Hyperphosphatemia Primary Hyperphosphatemic Tumoral Calcinosis Familial Tumoral Calcinosis HFTC1 Hypercalcemic Tumoral Calcinosis Hyperphosphatemia Hyperostosis Hyperphosphatemia Hyperostosis Syndrome Hyperphosphatemia Tumoral Calcinosis Tumoral Calcinosis Calcinosis, Tumoral, With Hyperphosphatemia Tumoral Calcinosis, Primary Hyperphosphatemic Teutschlaender Disease, Familial Familial Teutschlaender Disease Tumoral Calcinosis With Hyperphosphatemia Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome Ftc/Hhs Familial Tumoral Calcinosis With Hyperphosphatemia Teutschlaender Disease Tumoral Calcinosis Primary Hyperphosphatemic Calcinosis, Tumoral, Hyperphosphatemic, Familial
Van Buchem Disease	Hyperostosis Corticalis Generalisata Hyperphosphatasemia Tarda VBCH Sost-Related Sclerosing Bone Dysplasia Endosteal Hyperostosis Autosomal Recessive Sclerosteosis Endosteal Hyperostosis, Autosomal Recessive Hyperotosis Corticalis Generalisata Familiaris Sost Sclerosing Bone Dysplasia Smith-Lemli-Opitz Syndrome
Acrodysostosis	Acrodysplasia Arkless-Graham Syndrome Maroteaux-Malamut Syndrome Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome
Acquired Metabolic Disease
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia 1 HOMG1 Hypomagnesemia With Secondary Hypocalcemia Hsh Hypomagnesemic Tetany Intestinal Hypomagnesemia With Secondary Hypocalcemia Homg Hypomagnesemia Caused By Selective Magnesium Malabsorption Hypomagnesemia Intestinal Type 1 Primary Hypomagnesemia With Secondary Hypocalcemia Phsh Hypomagnesemia, Intestinal, With Secondary Hypocalcemia Familial Primary Hypomagnesemia With Hypocalcuria Hypomagnesemia 1 Hypomagnesmic Tetany
Hypocalciuric Hypercalcemia, Familial, Type Ii	HHC2 Familial Hypocalciuric Hypercalcemia 2 Fbh2 Familial Hypocalciuric Hypercalcemia Type 2 Hypocalciuric Hypercalcemia, Type Ii Fhh Type 2 Familial Benign Hypercalcemia, Type Ii Hypercalcemia, Familial Benign, Type Ii Hypocalciuric Hypercalcemia Type Ii Familial Benign Hypercalcemia, Type 2 Hypercalcemia, Familial Benign Type 2 Hypocalciuric Hypercalcemia, Familial, Type 2 Hypocalciuric Hypercalcemia, Familial 2 Familial Benign Hypercalcemia Type Ii Hypocalciuric Hypercalcemia-2
Basal Ganglia Disease	Basal Ganglia Diseases Basal Ganglia Disorders Abnormality Of The Basal Ganglia
Osseous Heteroplasia, Progressive	Progressive Osseous Heteroplasia POH Osteoma Cutis Familial Ectopic Ossification Ectopic Ossification Familial Type Ectopic Ossification Heterotopic Ossification Ectopic Ossification, Familial Cutaneous Ossification Myositis Ossificans Progressiva Osteodermia Osteosis Cutis Ossification Heterotopic Heteroplasia, Osseous, Progressive Fibrodysplasia Ossificans Progressiva
Gorham'S Disease	Gorham-Stout Syndrome Osteolysis, Essential Disappearing Bone Disease Essential Osteolysis Gorham Disease Massive Osteolysis Phantom Bone Disease Cystic Angiomatosis Of Bone Diffuse Gorham-Stout Disease Osteolysis Massive Vanishing Bone Disease Massive Osteolyses
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
Renal Tubular Acidosis	Acidosis Renal Tubular Acidosis, Renal Tubular Lightwood-Albright Syndrome Lightwood Syndrome Idiopathic Infantile Hypercalcemia - Mild Form Kidney Tubular Acidosis Renal Tubule Acidosis Kidney Acidosis Renal Acidosis Renal Hyperchloremic Acidosis Rta - [Renal Tubular Acidosis]
Nontoxic Goiter	Goiter, Non-Toxic Goitre, Non-Toxic Nodule-Thyroid, Non Tox Non-Toxic Goitre Non-Toxic Simple Goitre Goitre Nos Goitre Struma Enlarged Thyroid Gland Thyromegaly Thyroid Hypertrophy Thyroid Gland Hypertrophy Thyroid Hyperplasia Thyroid Gland Hyperplasia Swelling Of Thyroid Gland Substernal Thyroid Mass Substernal Goitre Substernal Thyroid Retrosternal Thyroid Struma Sporadic Nodular Struma Struma Of Thyroid Retrosternal Goitre Plunging Goitre Nontoxic Nodular Goitre Nodular Struma Form Of Goitre Hyperplastic Goitre Hypertrophic Thyroid Intrathoracic Goitre Nodular Goitre
Thyroid Gland Disease	Abnormality Of The Thyroid Gland Thyroid Diseases
Hypocalciuric Hypercalcemia, Familial, Type Iii	HHC3 Familial Hypocalciuric Hypercalcemia 3 Fbh3 Familial Hypocalciuric Hypercalcemia Type 3 Hypercalcemia, Familial Benign, Oklahoma Type Hypocalciuric Hypercalcemia, Type Iii Fhh Type 3 Hypocalciuric Hypercalcemia Type Iii Familial Benign Hypercalcemia, Type Iii Hypercalcemia, Familial Benign, Type Iii Fbhok Familial Benign Hypercalcemia, Oklahoma Variant Familial Benign Hypercalcemia, Type 3 Hypercalcemia, Familial Benign, Type 3 Hypocalciuric Hypercalcemia, Familial, Type 3 Hypocalciuric Hypercalcemia, Familial 3 Familial Benign Hypercalcemia 3 Familial Benign Hypercalcemia Oklahoma Type Familial Benign Hypocalciuric Hypercalcemia 3 Fbhh3 Fhh3
Basal Ganglia Calcification	Fahr'S Syndrome Fahr'S Disease Fahr Disease
Endemic Goiter	Iodine-Deficiency-Related Endemic Goitre Simple Goitre Goiter, Endemic Euthyroid Goiter
Bone Giant Cell Tumor	Giant Cell Tumor Of Bone Osteoclastoma Gct Of Bone Bone Giant Cell Tumour Giant Cell Myeloma Giant Cell Neoplasm Of Bone Giant Cell Tumour Of Bone
Multinodular Goiter
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Sanjad-Sakati Syndrome Hrd Syndrome HRDS Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome Richardson-Kirk Syndrome Sss Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay Hypoparathyroidism With Short Stature, Mental Retardation And Seizures Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay
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
Plummer'S Disease	Toxic Nodular Goiter Plummer Disease Goiter Toxic Nodular
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Vitamin K Deficiency Bleeding	Vitamin K Deficiency Deficiency Of Vitamin K Vitamin K Vitamin K Deficiency Hemorrhagic Disease
Chronic Pyelonephritis
Thyroid Gland Cancer	Thyroid Gland Carcinoma Malignant Neoplasm Of Thyroid Gland Malignant Tumour Of Thyroid Gland Thyroid Neoplasm Thyroid Neoplasms Neoplasm Of Thyroid Gland Thyroid Gland Neoplasm Head And Neck Cancer, Thyroid Neoplasm Of The Thyroid Gland Cancer Of The Thyroid Primary Malignant Neoplasm Of Thyroglossal Duct Malignant Neoplasm Of Thyroglossal Duct Primary Malignant Neoplasm Of Thyroid Gland Thyroglossal Duct Cancer Toxic Goitre Malignant Tumour Cancerous Goitre
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Hypophosphatasia	Phosphoethanolaminuria Childhood Hypophosphatasia Deficiency Of Alkaline Phosphatase Hypophospatasia, Childhood Hypophosphatasia Mild Phosphoethanol-Aminuria Rathburn Disease Hpp Rathbun Disease Hypophosphatasia, Childhood Infantile Hypophosphatasia
Scleredema Adultorum	Scleredema Buschke'S Scleredema Scleredema Adultorum Of Buschke Scleredema Diabeticorum Scleredema Diabeticorum Of Buschke Buschke Scleredema
Malignant Ovarian Brenner Tumor	Malignant Brenner Tumor
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
Spondylolisthesis	Slipped Vertebrae Acquired Spondylolisthesis
Sclerosteosis	Cortical Hyperostosis With Syndactyly Sost Cortical Hyperostosis-Syndactyly Syndrome
Failure Of Tooth Eruption, Primary	Primary Failure Of Tooth Eruption PFE Primary Retention Of Teeth Unerupted Second Primary Molar Dental Noneruption Familial Posterior Openbite Malocclusion Primary Failure Of Tooth Eruption, Nonsyndromic Posterior Openbite Malocclusion, Familial Nonsyndromic Primary Failure Of Eruption Dental Non-Eruption Non-Syndromic Primary Failure Of Eruption Tooth Eruption, Failure, Primary
Tooth Resorption
Myelofibrosis	Primary Myelofibrosis Agnogenic Myeloid Metaplasia Idiopathic Myelofibrosis Myeloid Metaplasia Myelofibrosis With Myeloid Metaplasia Osteomyelofibrosis Megakaryocytic Myelosclerosis Myelosclerosis Chronic Idiopathic Myelofibrosis Myelofibrosis, Idiopathic Myelofibrosis With Myeloid Metaplasia, Somatic Myelofibrosis, Somatic Aleukemic Myelosis Bone Marrow Fibrosis MYELOF MMM Agnogenic Myeloid Metaplasia With Myelofibrosis Ammm Myelosclerosis With Myeloid Metaplasia Myelofibrosis Nos
Nodular Goiter	Goiter, Nodular Nodular Goitre Goiter Nodular Non-Toxic Nodular Goiter
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Periarthritis
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
Paget'S Disease Of Bone	Osteitis Deformans Paget Disease Of Bone Osseous Paget'S Disease Paget Disease Of Bone, Familial Bone Paget Disease Familial Paget'S Disease Of Bone Paget'S Bone Disease Familial Paget Disease Of Bone Paget Disease, Bone Pdb Pagets Bone Disease
Bone Development Disease
Benzylpenicillin Allergy	Benzyl Penicillin Allergy Penicillin G Allergy
Spondyloarthropathy 1	Ankylosing Spondylitis Spondyloarthropathy, Susceptibility To, 1 SPDA1 Marie-Strumpell Spondylitis Bechterew Syndrome Spa Spondylarthritis Ankylopoietica Reiter Syndrome Ankylosing Spondylitis, Susceptibility To Bekhterev Syndrome Bekhterev'S Disease Marie-Strumpell Disease Axial Spondylarthritis Bechterew Disease Marie-Struempell Disease Spondylitis Ankylopoietica Spondyloarthritis Spondyloarthritis Ankylopoietica Spas Ankylosing Spondylarthritis Psoriatic Arthritis Reactive Arthritis Rheumatoid Spondylitis Spondylitis Ankylosans Spondylitis Ankylosing Spondylitis, Ankylosing Spondylarthropathies Arthritis, Psoriatic Arthritis, Reactive
Osteoblastoma
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Cell Type Benign Neoplasm
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
Lactose Intolerance	Lactose Malabsorption Lm - Lactose Malabsorption Alactasia Dairy Product Intolerance Hypolactasia Milk Sugar Intolerance Cow Milk Enteropathy Intolerance Or Malabsorption Of Lactose Lm - [Lactose Malabsorption] Milk Intolerance
Mccune-Albright Syndrome	Mass Syndrome Polyostotic Fibrous Dysplasia MAS Fibrous Dysplasia Of Bone Albright Syndrome Mass Phenotype Overlap Connective Tissue Disease Mccune Albright Syndrome Osteitis Fibrosa Disseminata OCTD Albright'S Disease Pfd Pofd Albright'S Syndrome Mccune-Albright Syndrome, Somatic, Mosaic Albright'S Disease Of Bone Albright'S Syndrome With Precocious Puberty Albright-Mccune-Sternberg Syndrome Albright-Sternberg Syndrome Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty Gonadotropin-Independent Female-Limited Sexual Precocity Fibrous Dysplasia Polyostotic Fibrous Dysplasia, Polyostotic
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Dysgerminoma Of Ovary	Ovarian Dysgerminoma Malignant Dysgerminomatous Germ Cell Tumour Of Ovary Dysgerminoma, Unspecified Site, Female
Ovarian Small Cell Carcinoma	Small Cell Carcinoma Of The Ovary Scco Small Cell Ovarian Carcinoma
Spondylolysis	Acquired Spondylolysis
Hypersensitivity Reaction Type Iv Disease	Immunoproliferative Disorders Immunoproliferative Disease
Diffuse Idiopathic Skeletal Hyperostosis	Hyperostosis, Diffuse Idiopathic Skeletal Ankylosing Vertebral Hyperostosis Dish Disseminated Idiopathic Skeletal Hyperostosis Forestier Disease Forestier'S Disease Hyperostosis Diffuse Idiopathic Skeletal
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Osteochondrosis	Osteochondritis Apophysitis Epiphysitis Osteochondritis Juvenilis Epiphyseal Necrosis Juvenile Osteochondrosis Of Tibial Tubercle
Breast Adenocarcinoma	Mammary Adenocarcinoma Adenocarcinoma Of Breast
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Vitamin D-Dependent Rickets, Type 2a	Hvdrr Generalized Resistance To 1,25-Dihydroxyvitamin D Hypocalcemic Vitamin D-Resistant Rickets VDDR2A Rickets, Hereditary Vitamin D-Resistant Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Pddr Iia Rickets-Alopecia Syndrome Rickets, Vitamin D-Resistant, Type Iia Vitamin D-Dependent Rickets Type 2a Vitamin D-Dependent Rickets, Type 2 Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia Generalized 1,25-Dihydroxyvitamin D Pseudovitamin D-Deficiency, Type Iia Hereditary Vitamin D-Resistant Rickets Vddr Ii Vdrr Ii Vitamin D-Dependent Rickets Type Ii Vitamin D-Resistant Rickets Type Ii Rickets Vitamin D-Dependent 2a Pseudovitamin D-Deficiency Type Iia Rickets Hereditary Vitamin D-Resistant Type Iia Rickets Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia Vitamin D-Dependent Rickets, Type Ii Familial Hypophosphatemic Rickets Hypophosphatemic Rickets, X-Linked Dominant
Renal Hypertension	Hypertension Renal Hypertension, Renal
Bursitis	Bursitis, Not Otherwise Specified Inflammation Of Bursa
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Thyroid Gland Medullary Carcinoma	Medullary Thyroid Carcinoma Medullary Carcinoma Of The Thyroid Gland Ultimobranchial Thyroid Tumor Ultimobranchial Thyroid Tumour Thyroid Cancer, Medullary
Nerve Compression Syndrome	Entrapment Neuropathies Compression Neuropathy Entrapment Neuropathy Peripheral Nerve Entrapment Syndrome Nerve Compression Syndromes Hereditary Liability To Pressure Palsies
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
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
Connective Tissue Benign Neoplasm	Soft Tissue Neoplasms Mesenchymal Tissue Neoplasm Neoplasm Of Soft Tissue Neoplasm Of Soft Tissues Soft Tissue Benign Neoplasm Tumor Of The Soft Tissue Soft Tissue Neoplasm
Spondylosis	Lumbar Spondylosis With Myelopathy Lumbosacral Spondylosis Without Myelopathy Spondylogenic Compression Of Lumbar Spinal Cord Spondylogenic Compression Of Thoracic Spinal Cord Spondylosis With Myelopathy Thoracic Or Lumbar Spondylosis With Myelopathy
Tall Cell Variant Papillary Carcinoma	Tall Cell Variant Thyroid Gland Papillary Carcinoma
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratoelastoidosis Of Costa Ake Punctate Palmoplantar Keratoderma Type Iii PPKP3 Keratoderma, Palmoplantar, Punctate Type 3 Punctate Palmoplantar Hyperkeratosis Type 3 Punctate Palmoplantar Keratoderma Type 3 Rare Form Of Hirschsprung'S Disease Acrokeratoelastoidosis Collagenous Plaques Of Hands And Feet Aganglionosis, Total Intestinal Collagenous Plaques Of Hand And Feet Palmoplantar Keratoderma, Punctate Type 3 Aganglionosis, Total Colonic Ntia Near-Total Intestinal Aganglionosis Tia
Kohler'S Disease	Kohler Disease Aseptic Necrosis Of The Tarsal Bone Osteochondrosis Of The Tarsal Bone Juvenile Osteochondrosis Of Foot Kohler'S Disease Of The Tarsal Navicular Kohler'S Osteochondrosis Of The Tarsal Navicular Navicular Osteochondrosis Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone Osteochondritis Of Tarsal/Metatarsal Bone Avascular Necrosis Of The Tarsal Bone Larsen-Johansson Syndrome
Autoimmune Disease Of Endocrine System
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Invasive Malignant Thymoma	Infiltrating Thymoma Thymoma Malignant Invasive Invasive Thymoma And Thymic Carcinoma
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Schimmelpenning-Feuerstein-Mims Syndrome	Nevus Sebaceus Of Jadassohn Organoid Nevus Phakomatosis Linear Nevus Sebaceous Syndrome Sfm Syndrome Jadassohn Nevus Phakomatosis Jnp Schimmelpenning Syndrome Solomon Syndrome SFM Linear Sebaceous Nevus Syndrome Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic Nevus Sebaceus Syndrome Organoid Nevus Syndrome Schimmelpenning Feuerstein Mims Syndrome Sebaceous Nevus Syndrome, Linear Epidermal Nevus Syndrome, Formerly Sebaceous Nevus Syndrome Linear Linear Nevus Sebaceus Syndrome Epidermal Nevus Syndrome Ss Nevus Sebaceous
Isthmus Cancer
Endocrine System Disease	Abnormality Of The Endocrine System Disorder Of Endocrine System Endocrine System Diseases
Nephrogenic Diabetes Insipidus	Vasopressin-Resistant Diabetes Insipidus Diabetes Insipidus, Nephrogenic Diabetes Insipidus Nephrogenic Congenital Nephrogenic Diabetes Insipidus Adh Resistant Diabetes Insipidus Diabetes Insipidus Nephrogenic X-Linked Diabetes Insipidus Nephrogenic Type 1 Adh-Resistant Diabetes Insipidus Diabetes Insipidus Renalis Ndi Renal Diabetes Insipidus Familial Nephrogenic Diabetes Antidiuretic-Hormone-Resistant Diabetes Insipidus Adiuretin-Resistant Diabetes Insipidus Ndi - [Nephrogenic Diabetes Insipidus] Diabetes Tenuifluus Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus Hereditary Nephrogenic Diabetes Insipidus Familial Nephrogenic Diabetes Insipidus Primary Nephrogenic Diabetes Insipidus
Bone Structure Disease
Sarcoidosis 1	Sarcoidosis Boeck Sarcoid Besnier-Boeck-Schaumann Disease SS1 Sarcoidosis, Susceptibility To, 1 Lymphogranulomatosis Hodgkin Disease Boeck'S Disease Boeck'S Sarcoid Schaumann'S Disease Or Syndrome Hutchinson-Boeck Disease Or Syndrome
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Diabetes Mellitus	Diabetes
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemic Nephrolithiasis/Osteoporosis 1 NPHLOP1 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
Nevus, Epidermal	Epidermal Nevus Woolly Hair Nevus Epidermal Naevus Epidermal Nevus Syndrome Nevus, Keratinocytic, Nonepidermolytic Epidermal Nevus, Somatic Nevus, Epidermal, Somatic Nevus Sebaceous Or Woolly Hair Nevus, Somatic Nonepidermolytic Keratinocytic Nevus Epidermal Hamartoma Syndrome Wooly Hair Nevus Keratinocytic Non-Epidermolytic Nevus KNEN Pigmented Moles Organoid Nevus Phakomatosis Nevus Sebaceous Melanocytic Nevus Melanocytic Nevus Of Skin
Sclerosing Hepatic Carcinoma	Sclerosing Hepatocellular Carcinoma
Tibial Adamantinoma	Tibial Adamantinoma Morphology
Brachydactyly
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome
Constipation
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (7)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-P0059	Teriparatide	Agonist	99.98%	Unkown
HY-P1955A	Etelcalcetide hydrochloride	Activator	99.80%	Unkown
HY-17613	Evocalcet	Activator	99.28%	Unkown
HY-109106A	Upacicalcet sodium	Agonist	99.91%	Unkown
HY-P1955	Etelcalcetide	Activator	/	Unkown
HY-109106	Upacicalcet	Agonist	/	Unkown
HY-P0059A	Teriparatide acetate hydrate	Agonist	/	Unkown

Clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Phase
HY-100856	PCO371	Agonist	99.67%	Phase 1

Pre-clinical Phase

Bioactive Molecules (56)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-112171	γ-L-Glutamyl-L-alanine	Modulator	98.0%	Unkown
HY-P4385	(Asn10,Leu11,D-Trp12)-pTH-Related Protein (7-34) amide (human, mouse, rat)	Antagonist	99.77%	Unkown
HY-P1852	TIP 39, Tuberoinfundibular Neuropeptide		99.84%	Unkown
HY-P2426	(D-Trp12,Tyr34)-pTH (7-34) amide (bovine)	Antagonist	99.70%	Unkown
HY-P3075	pTH-Related Protein (1-34) (human,mouse,rat)		99.64%	Unkown
HY-P4821	pTH (1-34) amide (human)		99.78%	Unkown
HY-P4823	pTH (1-37) (human)	Activator	99.91%	Unkown
HY-P1418A	DPC-AJ1951 TFA	Agonist	99.38%	Unkown
HY-P10909	Canvuparatide	Agonist	95.48%	Unkown
HY-P4697A	pTH (44-68) (human) TFA		99.45%	Unkown
HY-P10078	pTH (39-84) (human)	Activator	98.88%	Unkown
HY-P1252	Parathyroid Hormone (1-34), bovine	Agonist	99.88%	Unkown
HY-112171R	γ-L-Glutamyl-L-alanine (Standard)	Modulator	99.29%	Unkown
HY-P4697	pTH (44-68) (human)		/	Unkown
HY-P4701	pTH-Related Protein (1-34) amide (human, mouse, rat)		/	Unkown
HY-P4715	(Tyr36)-pTH-Related Protein (1-36) (human, mouse, rat)		99.08%	Unkown
HY-RS11395	PTH1R Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-10003A	1α-Hydroxy-3-epi-vitamin D3	Inhibitor	99.30%	Unkown
HY-109106B	(Rac)-Upacicalcet		95.0%	Unkown
HY-15106	SB-423557	Antagonist	/	Unkown
HY-176943	PTH1R agonist 1	Agonist	/	Unkown
HY-176944	PTH1R agonist 2	Agonist	/	Unkown
HY-176945	PTH1R agonist 3	Agonist	/	Unkown
HY-32351B	3-epi-Calcifediol		/	Unkown
HY-NP227	PTH Protein, human		/	Unkown
HY-P0059S	Teriparatide-d10		/	Unkown
HY-P10309	[Nle8,18,Tyr34]-pTH (3-34) amide (human)	Ligand	/	Unkown
HY-P1252A	Parathyroid Hormone (1-34), bovine TFA	Agonist	/	Unkown
HY-P1418	DPC-AJ1951	Agonist	/	Unkown
HY-P4690	pTH (13-34) (human)		/	Unkown
HY-P4692	pTH (1-44) (human)		/	Unkown
HY-P4696	pTH (3-34) (bovine)		/	Unkown
HY-P4700	pTH (53-84) (human)		/	Unkown
HY-P4817	Human PTH-(1-31)		/	Unkown
HY-P4818	Human PTH-(1-31) amide		/	Unkown
HY-P4827	pTH (1-84) (dog)	Agonist	/	Unkown
HY-P4835	pTH (2-34) (human)		/	Unkown
HY-P4849	pTH-Related Protein (1-37) (human, mouse, rat)	Activator	/	Unkown
HY-P4856	pTH-Related Protein (1-40) (human, mouse, rat)	Activator	/	Unkown
HY-P4857	pTH-Related Protein (7-34) amide (human, mouse, rat)		/	Unkown
HY-RS11394	PTH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11396	PTH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11397	PTH2R Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11454	PTRH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W282259	PTH-tyrosine		/	Unkown
HY-122075	FR 78844		/	Unkown
HY-171446	TAK-075	Antagonist	/	Unkown
HY-17613S	Evocalcet-d4	Activator	/	Unkown
HY-176946	PTH1R agonist 4	Agonist	/	Unkown
HY-179356	Octadecyl β-D-glucopyranosiduronic acid	Activator	/	Unkown
HY-RS16633	Pth Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17667	Pth1r Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20090	Pth2r Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23068	Pth Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24128	Pth1r Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26593	Pth2r Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

阻害性抗体 (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-P991361	ABX-10241	Inhibitor	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	PTH	MGD	MGI:97799
Macaca mulatta	PTH	VGNC	VGNC:107630
Bos taurus	PTH	VGNC	VGNC:33513
Canis familiaris	PTH	VGNC	VGNC:45153
Rattus norvegicus	PTH	RGD	RGD:3440
Others	PTH	NCBI