1. Gene
  2. PTH - parathyroid hormone Gene

PTH - parathyroid hormone Gene

Homo sapiens

Also known as FIH1; PTH1

Gene ID: 5741 | Gene type: protein coding

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 Reference Source
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
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

Parathyroid: Parathyroid hormone family (29 - 105)

  • 0
  • 100
  • 115 a.a.
Protein Preferred Names Protein Names

parathyroid hormone

parathormone

PTH Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
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

Cat. No. Product Name Accession Purity
HY-P7112 PTH Protein, Human P01270 (S32-Q115) ≥95%
HY-P71060 PTH Protein, Human (HEK293, His) P01270 (S32-Q115) ≥95%
HY-P73686 PTH Protein, Human (GST) P01270 (S32-F65) ≥95%

Related Diseases

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

Orthologs Information

Species Symbol Source 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