GNAS - GNAS complex locus Gene

Also Known as AHO; GSA; GSP; POH; GPSA; NESP; SCG6; SgVI; GNAS1; PITA3; C20orf45

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2778

About GNAS

Cytogenetic location: 20q13.32 Genomic coordinates (GRCh38): 20:58,839,748-58,911,192 (from NCBI)

This gene has 77 transcripts (splice variants), 275 orthologues, 15 paralogues and is associated with 186 phenotypes. Ubiquitous expression in thyroid (RPKM 405.2), brain (RPKM 137.2) and 25 other tissues.

Summary

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

GNAS Products (13)

mRNA Protein Name
NM_000516.7 NP_000507.1 protein GNAS isoform GNASL
NM_001077488.5 NP_001070956.1 protein GNAS isoform f
NM_001077489.4 NP_001070957.1 protein GNAS isoform g
NM_001077490.3 NP_001070958.1 protein ALEX isoform Alex
NM_001309840.2 NP_001296769.1 protein ALEX isoform h
NM_001309842.2 NP_001296771.1 protein ALEX isoform i
NM_001309861.2 NP_001296790.1 protein ALEX isoform h
NM_001309883.1 NP_001296812.1 protein ALEX isoform Alex
NM_001410912.1 NP_001397841.1 protein ALEX isoform j
NM_001410913.1 NP_001397842.1 protein ALEX isoform k
NM_016592.5 NP_057676.1 protein SCG6 (secretogranin VI) isoform SCG6
NM_080425.4 NP_536350.2 protein GNAS isoform XLas
NM_080426.4 NP_536351.1 protein GNAS isoform GNASS
Molecular Function GO Annotation Evidence References Source
enables D1 dopamine receptor binding IPI
IPI: Inferred from physical interaction
33571431 GOA
enables G protein activity IDA
IDA: Inferred from direct assay
10200251 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12719376 GOA
Biological Process GO Annotation Evidence References Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
IDA: Inferred from direct assay
10200251 GOA
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
12719376 GOA
involved in adenylate cyclase-activating adrenergic receptor signaling pathway IDA
IDA: Inferred from direct assay
12391161 GOA
involved in bone development IDA
IDA: Inferred from direct assay
12719376 GOA
involved in bone development IMP
IMP: Inferred from mutant phenotype
12719376 GOA
involved in cognition IDA
IDA: Inferred from direct assay
12719376 GOA
involved in cognition IMP
IMP: Inferred from mutant phenotype
12719376 GOA
involved in developmental growth IDA
IDA: Inferred from direct assay
12719376 GOA
involved in developmental growth IMP
IMP: Inferred from mutant phenotype
12719376 GOA
involved in hair follicle placode formation IDA
IDA: Inferred from direct assay
12719376 GOA
involved in hair follicle placode formation IMP
IMP: Inferred from mutant phenotype
12719376 GOA
involved in platelet aggregation IDA
IDA: Inferred from direct assay
12719376 GOA
involved in platelet aggregation IMP
IMP: Inferred from mutant phenotype
12719376 GOA
involved in regulation of signal transduction IMP
IMP: Inferred from mutant phenotype
12719376 GOA
involved in response to parathyroid hormone IMP
IMP: Inferred from mutant phenotype
22378814 GOA
involved in response to prostaglandin E IDA
IDA: Inferred from direct assay
17110384 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
20862257 GOA
located in cytosol IDA
IDA: Inferred from direct assay
12719376 GOA
located in membrane IDA
IDA: Inferred from direct assay
7997272 GOA
located in nucleus IDA
IDA: Inferred from direct assay
20862257 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
21584660 GOA
located in trans-Golgi network membrane IDA
IDA: Inferred from direct assay
7997272 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

GNAS Protein Structure

G-alpha

G-alpha: G-protein alpha subunit (8 - 383)

  • 0
  • 100
  • 200
  • 300
  • 394 a.a.
Protein Preferred Names Protein Names

protein ALEX

protein GNAS

protein SCG6 (secretogranin VI)

  • G protein subunit alpha S

GNAS Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
GNAS P63092 Coro1a Mus musculus O89053 26823173
Intra
GNAS Q5JWF2 ADGRF1 Homo sapiens Q5T601 34110646
Intra
GNAS Q5JWF2 ARRB1 Homo sapiens P49407 23353685
Intra
GNAS Q5JWF2 ARRB1 Homo sapiens P49407 23353685
Cross: Cross-species interaction Intra: Intraspecies interaction

GNAS Antibodies

Cat. No. 상품명 신청 Reactivity
HY-P86889 GNAS Antibody (YA6582) WB, ICC/IF, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
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

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

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

Pseudohypoparathyroidism, Type Ic
  • Pseudohypoparathyroidism Type 1c

  • PHP1C

  • Pseudohypoparathyroidism Ic

  • Php Ic

  • Pseudohypoparathyroidism 1c

Pseudohypoparathyroidism, Type Ib
  • Pseudohypoparathyroidism Type 1b

  • PHP1B

  • Pseudohypoparathyroidism Ib

  • Pseudohypoparathyroidism Type Ib

  • Php Ib

  • Pseudohypoparathyroidism 1b

Pseudopseudohypoparathyroidism
  • PPHP

  • Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance

  • Normocalcemic Pseudohypoparathyroidism

  • Aho-Pphp Syndrome

  • Albright Hereditary Osteodystrophy-Pphp Syndrome

  • Pseudohypoparathyroidism

Acth-Independent Macronodular Adrenal Hyperplasia
  • Acth-Independent Macronodular Adrenocortical Hyperplasia

  • Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia

  • Corticotropin-Independent Macronodular Adrenal Hyperplasia

  • Cushing Syndrome Due To Macronodular Adrenal Hyperplasia

  • AIMAH1

  • Aimah

  • Massive Macronodular Adrenocortical Disease

  • Mmad

  • Primary Macronodular Adrenal Hyperplasia

  • Cushing Syndrome, Adrenal, Due To Aimah

  • Primary Bilateral Macronodular Adrenal Hyperplasia

  • Acth-Independent Macronodular Adrenal Hyperplasia 1

  • Acth-Independent Cushing Syndrome

  • Adrenal Cushing Syndrome Due To Aimah

  • Acth-Independent Macronodular Adrenal Hyperplasia 2

Pituitary Adenoma 3, Multiple Types
  • PITA3

  • Pituitary Adenoma 3, Multiple Types, Somatic

  • Pituitary Adenoma 3

Pseudohypoparathyroidism
  • Familial Pseudohypoparathyroidism

  • Parathyroid Hormone Resistant Hypoparathyroidism

  • Php - [Pseudohypoparathyroidism]

  • Constitutional Chronic Hypocalcaemia

Brachydactyly
Monostotic Fibrous Dysplasia
  • Jaffe-Lichtenstein Disease

  • Fibrous Dysplasia Monostotic

  • Fibrous Dysplasia, Monostotic

Spastic Paraplegia 4, Autosomal Dominant
  • SPG4

  • Hereditary Spastic Paraplegia 4

  • Fsp2

  • Autosomal Dominant Spastic Paraplegia Type 4

  • Familial Spastic Paraplegia, Autosomal Dominant, 2

  • Autosomal Dominant Spastic Paraplegia 4

  • Familial Spastic Paraplegia Autosomal Dominant 2

  • Paraplegia, Spastic, Autosomal Dominant, Type 4

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

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

Acth-Independent Macronodular Adrenal Hyperplasia 1
  • Aimah1

  • Hyperplasia, Adrenal, Acth-Independent, Macronodular, Type 1

Fibrous Dysplasia / Mccune-Albright Syndrome
  • Fibrous Dysplasia/Mccune-Albright Syndrome

  • Fd/Mas

  • Fd/Mas Spectrum

  • Fd/Mas Syndrome

  • Fibrous Dysplasia/Mccune-Albright Spectrum

Fibrous Dysplasia
  • Fibrous Dysplasia Of Bone

Pituitary Tumors
  • Pituitary Tumor

  • Pituitary Neoplasms

Mazabraud Syndrome
  • Myxoma With Fibrous Dysplasia

  • Fibrous Dysplasia Of Bone With Intramuscular Myxoma

Acth-Independent Cushing Syndrome
  • Adrenal Cushing Syndrome

  • Adrenocorticotropic Hormone-Independent Cushing Syndrome

  • Corticotropin-Independent Cushing Syndrome

Hyperthyroidism
  • Overactive Thyroid

Pancreatic Adenocarcinoma
  • Adenocarcinoma Of The Pancreas

  • Adenocarcinoma Of Pancreas

  • Pancreas Adenocarcinoma

  • Malignant Exocrine Neoplasm

  • Primary Pancreatic Adenocarcinoma

  • Adenocarcinoma Of Islet Cell Of Pancreas

  • Islet Cell Adenocarcinoma Of Unspecified Site

  • Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Adenoma
  • Acinar Cell Adenoma

  • Adenomas

  • Acinic Cell Adenoma

Acromegaly
  • Gigantism

  • Growth Hormone Excess

  • Pituitary Giant

  • Somatotroph Adenoma

  • Growth Hormone-Secreting Pituitary Adenoma

Precocious Puberty
  • Familial Precocious Puberty

  • Idiopathic Sexual Precocity

  • Sexual Precocity

  • Puberty Precocious

  • Cryptogenic Sexual Precocity

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

Hyperphosphatemia
Adrenal Cortical Carcinoma
  • Adrenocortical Carcinoma

  • Adrenal Cortex Carcinoma

  • Carcinoma Of The Adrenal Cortex

  • Acc

  • Adrenocortical Cancer

  • Carcinoma Adrenocortical

Multinodular Goiter
Graves' Disease
  • Graves Disease

  • Exophthalmic Goiter

  • Basedow'S Disease

  • Grave'S Disease

  • Basedow Disease

  • Toxic Diffuse Goiter

  • Graves' Hyperthyroidism

  • Parry Disease

  • Autoimmune Hyperthyroidism

  • Toxic Multinodular Goiter

Growth Hormone Secreting Pituitary Adenoma
  • Somatotroph Adenoma

  • Growth Hormone-Secreting Pituitary Adenoma

  • Growth Hormone Producing Adenoma Of The Pituitary

  • Growth Hormone Secreting Adenoma Of Pituitary

Pseudomyxoma Peritonei
  • Adenomucinosis

  • Gelatinous Ascites

  • Pmp

  • Mucinous Ascites

  • Syndrome Of Pseudomyxoma Peritonei

Appendiceal Neoplasm
  • Appendix Neoplasm

  • Neoplasm Of Appendix

  • Appendiceal Neoplasms

  • Appendiceal Cancer

  • Appendix Cancer

  • Malignant Neoplasm Of Appendix Vermiformis

  • Malignant Tumour Of Appendix

Osteitis Fibrosa
  • Osteitis Fibrosa Cystica

  • Hyperparathyroid Bone Disease

  • Osteitis Fibrosa Cystica Generalisata

  • Von Recklinghausen'S Bone Disease

  • Osteitis Fibrosa Disseminata

Cholera
  • Vibrio Cholerae Infection

  • Cholera - Vibrio Cholerae

  • Cholera Due To Vibrio Cholerae

  • Vibrio Cholerae

  • Cholera Syndrome

  • Asiatic Cholera

  • Epidemic Cholera

Gastric Adenocarcinoma
  • Adenocarcinoma Of Stomach

  • Stomach Adenocarcinoma

  • Adenocarcinoma Gastric

  • Intestinal Type Adenocarcinoma Of Unspecified Site

  • Diffuse Type Adenocarcinoma Of Unspecified Site

Skin Melanoma
  • Cutaneous Melanoma

  • Malignant Ear Melanoma

  • Malignant Lip Melanoma

  • Malignant Lower Limb Melanoma

  • Malignant Melanoma Of Ear And/Or External Auricular Canal

  • Malignant Melanoma Of Skin Of Lower Limb

  • Malignant Melanoma Of Skin Of Trunk Except Scrotum

  • Malignant Melanoma Of Skin Of Upper Limb

  • Malignant Neck Melanoma

  • Malignant Scalp Melanoma

  • Malignant Trunk Melanoma

  • Malignant Upper Limb Melanoma

  • Melanoma, Cutaneous Malignant

  • Melanoma

  • Malignant Melanoma Of Skin

  • Melanoma Nos

  • Malignant Mole, Meaning Melanoma Of Unspecified Site

  • Melanoma Of Unspecified Site

  • Cutaneous Malignant Melanoma

  • Mm - [Malignant Melanoma]

Goiter
  • Goitre

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

Endocrine Gland Cancer
  • Endocrine Neoplasm

  • Malignant Neoplasm Of Endocrine Gland

  • Endocrine Gland Neoplasms

  • Endocrine Tumor

  • Malignant Endocrine Tumor

  • Malignant Tumour Of Endocrine Gland

  • Neoplasm Of Endocrine Gland

  • Neoplasm Of Endocrine System

  • Neoplasm Of The Endocrine System

  • Carcinoma Of Endocrine Gland

Hyperprolactinemia
  • Chiari-Frommel Syndrome

  • Hyperprolactinaemia

  • Familial Hyperprolactinemia

  • HPRL

  • Pregnancy-Related A-G Syndrome

  • Familial Isolated Prolactin Receptor Deficiency

Pituitary Adenoma
  • Adenoma Of The Pituitary Gland

  • Pituitary Adenomas

  • Adenoma, Pituitary

  • Pituitary Gland Adenoma

  • Pituitary Neoplasms

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

Appendix Disease
  • Disorder Of Appendix

Appendix Cancer
  • Appendiceal Neoplasms

  • Cancer Of The Appendix

  • Malignant Neoplasm Of Appendix Vermiformis

  • Malignant Tumor Of Appendix

  • Malignant Tumor Of The Appendix

  • Malignant Neoplasm Of Appendix

  • Carcinoma Of The Appendix

Acrodysostosis
  • Acrodysplasia

  • Arkless-Graham Syndrome

  • Maroteaux-Malamut Syndrome

  • Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome

  • Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome

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

Osteofibrous Dysplasia
  • Ofd

  • OSFD

  • Jaffe-Campanacci Syndrome

  • Ossifying Fibroma

  • Osteofibrous Dysplasia, Susceptibility To

  • Tibia, Bowing Of, With Pseudarthrosis And Pectus Excavatum

  • Intracortical Fibrous Dysplasia

  • Bowing Of Tibia With Pseudarthrosis And Pectus Excavatum

  • Dysplasia, Osteofibrous, Susceptibility To

Ovarian Cyst
  • Ovarian Cysts

Ossifying Fibroma
  • Peripheral Ossifying Fibroma

  • Fibro-Osteoma

  • Fibroma Ossifying

  • Fibroma, Ossifying

Cervical Cancer
  • Cervical Cancer, Somatic

  • Neoplasm Of Uterine Cervix

  • Cervix Cancer

  • Uterine Cervical Neoplasm

  • Cervical Neoplasm

  • Cervix Uteri Cancer

  • Tumor Of The Cervix Uteri

  • CERCA

  • Uterine Cervical Cancer

  • Neoplasms Cervical

  • Uterine Cervical Neoplasms

  • Cervical Cancers

  • Cancer, Cervical, Somatic

  • Malignant Tumor Of Cervix

  • Cervix Carcinoma

Peutz-Jeghers Syndrome
  • PJS

  • Polyposis, Hamartomatous Intestinal

  • Polyps-And-Spots Syndrome

  • Lentiginosis, Perioral

  • Periorificial Lentiginosis Syndrome

  • Hamartomatous Intestinal Polyposis

  • Hamartomatous Polyp

  • Colonic Hamartomatous Polyp

  • Gastric Peutz-Jeghers Polyp

  • Peutz Jeghers Colon Polyp

  • Peutz Jeghers Polyp

  • Peutz-Jeghers Polyp Of Small Intestine

  • Peutz-Jeghers Small Bowel Hamartoma

  • Peutz Jeghers Polyposis

  • Intestinal Polyposis-Cutaneous Pigmentation Syndrome

  • Peutz-Jeghers Polyposis

  • Polyposis, Intestinal, Ii

  • Intestinal Hamartomatous Polyposis

  • Peutz-Jeghers Polyp

  • Peutz-Jeghers Polyp Of The Stomach

  • Peutz Jehgers Polyp

  • Peutz-Jeghers Polyps Of Small Bowel

Mulchandani-Bhoj-Conlin Syndrome
  • MBCS

  • Maternal Uniparental Disomy Of Chromosome 20

  • Maternal Upd(20)

  • Upd(20)Mat

  • Uniparental Disomy, Maternal, Chromosome 20

Peripheral Osteosarcoma
  • Surface Osteosarcoma

  • Bone Surface Osteosarcoma

Lung Cancer Susceptibility 3
  • Lung Adenocarcinoma

  • Adenocarcinoma Of Lung

  • LNCR3

  • Adenocarcinoma Of Lung, Susceptibility To

  • Bronchogenic Lung Adenocarcinoma

  • Nonsmall Cell Adenocarcinoma

  • Adenocarcinoma Lung

  • Lung Adenocarcinomas

  • Non-Small Cell Adenocarcinoma

Squamous Cell Carcinoma, Head And Neck
  • Squamous Cell Carcinoma Of The Head And Neck

  • HNSCC

  • Head And Neck Squamous Cell Carcinoma

  • Squamous Cell Carcinoma Of Lip

  • Squamous Cell Carcinoma, Head And Neck, Somatic

  • Carcinoma Of The Head And Neck

  • Squamous Cell Carcinomas Of Head And Neck

  • Scchn

  • Squamous Cell Carcinoma Of The Hypopharynx

  • Squamous Cell Carcinoma Of The Oropharynx

  • Squamous Cell Carcinoma Of Salivary Glands

  • Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

  • Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

  • Squamous Cell Carcinoma Of The Oral Cavity

  • Squamous Cell Carcinoma Of The Lip

  • Carcinoma, Squamous Cell Of Head And Neck

  • Lip Squamous Cell Carcinoma

  • Carcinoma, Squamous Cell, Head And Neck

  • Salivary Gland Squamous Cell Carcinoma

  • Cancer Of Head And Neck

  • Squamous Cell Carcinoma Of Oropharynx Nos

Cystadenoma
  • Cystoma

  • Craniopharyngioma

Papillary Carcinoma
  • Carcinoma, Papillary

  • Carcinoma Papillary

Appendix Adenocarcinoma
  • Cystadenocarcinoma

  • Mucinous Adenocarcinoma

  • Adenocarcinoma Of Appendix

  • Appendiceal Adenocarcinoma

  • Adenocarcinoma Of The Appendix

  • Colonic Type Adenocarcinoma

  • Nonmucinous Adenocarcinoma

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

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

Calcinosis
  • Pathologic Calcification

  • Pathologically Calcified Structure

Hormone Producing Pituitary Cancer
  • Growth Hormone Producing Pituitary Tumor

  • Pituitary Tumors, Hormone Producing

  • Somatotropinoma

  • Growth Hormone-Producing Pituitary Gland Neoplasm

Adrenal Adenoma
  • Adenoma Of The Adrenal Gland

  • Adrenal Incidentaloma

  • Adrenal Cortical Adenoma

  • Adrenocortical Adenoma

Parosteal Osteosarcoma
  • Juxtacortical Osteosarcoma

  • Parosteal Osteogenic Sarcoma

  • Osteosarcoma, Juxtacortical

Pituitary Cancer
  • Pituitary Carcinoma

  • Malignant Pituitary Neoplasm

  • Malignant Tumor Of Pituitary Gland

  • Neoplasm Of Pituitary Gland

  • Pituitary Gland Cancer

  • Pituitary Gland Neoplasm

  • Pituitary Neoplasm

  • Carcinoma Of The Pituitary Gland

  • Neoplasm Of The Pituitary Gland

  • Pituitary Neoplasms

  • Malignant Neoplasm Of Pituitary Gland

Fibroma
Bartter Syndrome, Type 5, Antenatal, Transient
  • Bartter Disease Type 5

  • BARTS5

  • Bartter Syndrome Type 5

  • Bartter Syndrome Type V

  • Transient Antenatal Bartter Syndrome

  • Bartter Syndrome 5, Antenatal, Transient

Hypophosphatemia
  • Vitamin D-Resistant Rickets

  • Hereditary Hypophosphatemic Rickets

  • Vdrr

  • Vitamin D Resistant Rickets

  • Hypophosphatemic Rickets, X-Linked Dominant

  • Familial Hypophosphatemic Rickets

Follicular Adenoma
  • Follicular Adenoma Of The Thyroid Gland

  • Thyroid Follicular Adenoma

  • Adenoma Follicular

  • Follicular Thyroid Adenoma

  • Thyroid Gland Follicular Adenoma

Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

Polyhydramnios
Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

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

Prolactinoma
  • Prolactin-Producing Pituitary Gland Adenoma

  • Prolactin-Secreting Pituitary Adenoma

  • Forbes-Albright Syndrome

  • Lactotroph Adenoma

  • Prl-Secreting Pituitary Adenoma

  • Prloma

  • Pituitary Lactotrophic Adenoma

  • Familial Prolactinoma

  • Pituitary Adenoma, Prolactin-Secreting

  • Prolactinoma Of Pituitary Gland

  • PSPA

Common Bile Duct Neoplasm
  • Common Bile Duct Neoplasms

  • Neoplasm Of Common Bile Duct

Chromosome 2q37 Deletion Syndrome
  • Albright Hereditary Osteodystrophy-Like Syndrome

  • 2q37 Microdeletion Syndrome

  • Brachydactyly-Intellectual Disability Syndrome

  • Deletion 2q37

  • 2q37 Deletion Syndrome

  • Brachydactyly-Mental Retardation Syndrome

  • Bdmr

  • Albright Hereditary Osteodystrophy Type 3

  • Del(2)(Q37)

  • Monosomy 2q37qter

  • Albright'S Hereditary Osteodystrophy-Like Syndrome

  • Monosomy 2q37

  • Chromosome Deletion Syndrome 2q37

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

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

Carney Complex Variant
  • Carney Complex

  • Carney Syndrome

  • Carney Complex, Type 1

  • Lamb Syndrome

  • Name Syndrome

  • Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

  • Carney Complex - Trismus - Pseudocamptodactyly Syndrome

  • Carney Complex, Type 2

  • Car

  • Cnc1

  • Carney Myxoma-Endocrine Complex

  • Myxoma - Spotty Pigmentation - Endocrine Overactivity

  • Myxoma, Spotty Pigmentation, And Endocrine Overactivity

  • Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

  • Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

  • Carney Complex-Trismus-Pseudocamptodactyly Syndrome

  • CACOV

Villous Adenoma
  • Adenoma Villous

  • Adenoma, Villous

Endometrial Mucinous Adenocarcinoma
  • Uterine Corpus Mucinous Adenocarcinoma

Ovarian Cystadenocarcinoma
  • Cystadenocarcinoma Of Ovary

  • Cystadenocarcinoma Of The Ovary

Primary Pigmented Nodular Adrenocortical Disease
  • Ppnad

  • Primary Pigmented Nodular Adrenal Dysplasia

  • Pigmented Nodular Adrenocortical Disease, Primary, 2

  • Pigmented Nodular Adrenocortical Disease, Primary, 1

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
  • SRTD13

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Multiple Enchondromatosis, Maffucci Type
  • Maffucci Syndrome

  • Chondrodysplasia With Hemangioma

  • Chondroplasia Angiomatosis

  • Enchondromatosis With Hemangiomata

  • Hemangiomatosis Chondrodystrophica

  • Kast Syndrome

  • Multiple Angiomas And Endochondromas

  • Dyschondrodysplasia With Hemangiomas

  • Enchondromatosis Type Ii

  • Enchondromatosis With Multiple Cavernous Hemangiomas

  • Dyschondroplasia And Cavernous Hemangioma

  • Hemangiomata With Dyschondroplasia

Temple Syndrome
  • Uniparental Disomy, Maternal, Chromosome 14

  • Temple Syndrome Due To Paternal 14q32.2 Microdeletion

  • Paternal Del(14)(Q32.2)

  • Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

  • Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

  • Upd(14)Mat

Transient Neonatal Diabetes Mellitus
  • Diabetes Mellitus, Transient Neonatal

  • Tndm

  • Chromosome 6-Associated Transient Diabetes Mellitus

  • Dmtn

  • Diabetes Mellitus, 6q24-Related Transient Neonatal

  • Tndm1

  • Neonatal Diabetes Mellitus, Transient

  • Tndm -[Transient Neonatal Diabetes Mellitus]

Basophil Adenoma
  • Adenoma, Basophil

  • Pituitary Gland Basophilic Adenoma

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Osteopetrosis
  • Marble Bone Disease

  • Albers-Schonberg Disease

  • Osteopetroses

  • Marble Bones

  • Osteopetrosis And Related Disorders

  • Congenital Osteopetrosis

  • Marble Bone

  • Albers-Schoenberg Disease

  • Albers-Schonberg Osteopetrosis

  • Osteosclerosis Fragilis

  • Ivory Bones

Precocious Puberty, Male-Limited
  • Testotoxicosis

  • Familial Male-Limited Precocious Puberty

  • Leydig Cell Adenoma, Somatic, With Precocious Puberty

  • FMPP

  • Familial Testotoxicosis

  • Sexual Precocity, Familial, Gonadotropin-Independent

  • Familial Gonadotropin-Independent Male-Limited Sexual Precocity

  • Male-Limited Precocious Puberty

  • Pubertas Praecox

  • Gonadotropin-Independent Familial Sexual Precocity

  • Testotoxicosis, Familial

  • Precocious Puberty, Male

  • Precocious Puberty, Male Limited

  • Familial Gonadotrophin-Independent Sexual Precocity

  • Gipp

  • Gonadotrophin-Independent Precocious Puberty

  • Precocious Pseudopuberty

  • Familial Male Precocious Puberty

  • Precocious Puberty In Males

  • Puberty, Precocious

  • Precocious Puberty

Juvenile Type Testicular Granulosa Cell Tumor
  • Juvenile Granulosa Cell Tumor

  • Juvenile Granulosa Cell Tumour

  • Juvenile Type Granulosa Cell Neoplasm

  • Juvenile Type Granulosa Cell Tumor

  • Juvenile Type Granulosa Cell Tumour

  • Juvenile Type Testicular Granulosa Cell Tumour

Testicular Granulosa Cell Tumor
  • Granulosa Cell Tumor Of Testis

  • Granulosa Cell Tumour Of Testis

  • Testicular Granulosa Cell Tumour

Proteus Syndrome
  • Proteus Syndrome, Somatic

  • Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome

  • Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly

  • Wiedemann'S Syndrome

  • Hemihypertrophy And Macrocephaly

  • Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly

  • Ps

  • PROTEUSS

  • Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

Parathyroid Adenoma
  • Adenoma Of Parathyroid

  • Adenoma Of The Parathyroid Gland

  • Parathyroid Gland Adenoma

Hypertension And Brachydactyly Syndrome
  • Brachydactyly With Hypertension

  • Bilginturan Syndrome

  • HTNB

  • Brachydactyly-Arterial Hypertension Syndrome

  • Brachydactyly, Type E, With Short Stature And Hypertension

  • Bilginturan Brachydactyly

  • Brachydactyly Type E With Short Stature And Hypertension

  • Type E Brachydactyly With Short Stature And Hypertension

  • Brachydactyly Type E, With Short Stature And Hypertension

  • Hypertension With Brachydactyly

Hyperpituitarism
Phosphorus Metabolism Disease
  • Phosphorus Metabolism Disorders

  • Disorder Of Phosphorus Metabolism

  • Phosphorus Disorder

  • Phosphorus Metabolism Disorder

Bone Benign Neoplasm
Dicer1 Syndrome
  • Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome

  • Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome

  • Ppb Familial Tumor Susceptibility Syndrome

  • Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

  • Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility

  • Dicer1-Related Pleuropulmonary Blastoma

  • Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome

  • Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome

  • Ppbftds

  • Doid:0081063

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Silver-Russell Syndrome 1
  • Silver-Russell Syndrome

  • Russell-Silver Syndrome

  • Silver-Russell Dwarfism

  • Rss

  • SRS1

  • Srs

  • Silver Russell Dwarfism

  • Russell Silver Syndrome

  • Silver Russell Syndrome

Ovarian Serous Cystadenocarcinoma
  • Serous Cystadenoma

  • Cystadenoma Serous

  • Cystadenoma, Serous

Functioning Pituitary Adenoma
  • Secretory Adenoma Of The Pituitary Gland

  • Endocrine Active Pituitary Adenoma

  • Secreting Pituitary Adenoma

  • Pituitary Adenoma, Functioning

Kagami-Ogata Syndrome
  • Paternal Uniparental Disomy Of Chromosome 14

  • Uniparental Disomy, Paternal, Chromosome 14

  • Kos

  • Mca Due To 14q32.2 Maternally Expressed Gene Defect

  • Paternal Uniparental Disomy 14

  • Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

  • Maternal Del(14)(Q32.2)

  • Maternal Monosomy 14q32.2

  • Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

  • Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

  • Upd(14)Pat

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Eiken Syndrome
  • Eiken Skeletal Dysplasia

  • Bone Modeling Defect Of Hands And Feet

  • EKNS

Multiple Endocrine Neoplasia, Type Iv
  • Multiple Endocrine Neoplasia Type 4

  • MEN4

  • Multiple Endocrine Neoplasia 4

  • Neoplasia, Endocrine, Multiple, Type Iv

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Mucinous Adenocarcinoma
  • Mucin-Producing Adenocarcinoma

  • Mucin-Secreting Adenocarcinoma

  • Mucin-Secreting Carcinoma

  • Mucous Carcinoma

  • Pseudomyxoma Peritonei With Unknown Primary Site

  • Adenocarcinoma, Mucinous

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

Lissencephaly, X-Linked, 2
  • X-Linked Lissencephaly With Abnormal Genitalia

  • Hydranencephaly With Abnormal Genitalia

  • Xlag

  • Xlisg

  • X-Linked Lissencephaly With Ambiguous Genitalia

  • LISX2

  • Lissencephaly, X-Linked 2

  • X-Linked Lissencephaly 2

  • X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome

  • Xlag Syndrome

  • Lissencephaly, X-Linked, With Ambiguous Genitalia

  • Xlis2

  • X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies

  • X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome

  • Xlag Syndrome

  • Lissencephaly X-Linked With Ambiguous Genitalia

  • Lissencephaly, X-Linked, Type 2

  • Chromosome Xq26.3 Duplication Syndrome

Pituitary Gland Disease
  • Pituitary Diseases

  • Pituitary Dysfunction

  • Pituitary Disease

  • Pituitary Deficiency

  • Pituitary Disorders

Ovary Adenocarcinoma
  • Ovarian Adenocarcinoma

  • Adenocarcinoma Of The Ovary

  • Ovarian Adenoacanthoma

  • Adenocarcinoma Of Ovary

Papillary Adenofibroma
Breast Juvenile Papillomatosis
  • Juvenile Papillomatosis Of The Breast

Colon Adenocarcinoma
  • Adenocarcinoma Of Colon

  • Adenocarcinoma Of The Colon

  • Colonic Adenocarcinoma

Adrenal Gland Disease
  • Adrenal Gland Diseases

  • Adrenal Gland Disorders

Dowling-Degos Disease 1
  • Reticular Pigment Anomaly Of Flexures

  • DDD1

  • Ddd

  • Hyperpigmentation

  • Dowling-Degos Disease

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

Thyroid Gland Disease
  • Abnormality Of The Thyroid Gland

  • Thyroid Diseases

Beckwith-Wiedemann Syndrome
  • Wiedemann-Beckwith Syndrome

  • BWS

  • Exomphalos-Macroglossia-Gigantism Syndrome

  • Emg Syndrome

  • Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

  • Emg Abnormality

  • Wbs

  • Exomphalos Macroglossia Gigantism Syndrome

  • Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

  • Macroglossia Exomphalos Gigantism

Bone Osteosarcoma
  • Osteosarcoma Of Bone

  • Primary Osteosarcoma Of Bone

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

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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
Bos taurus GNAS VGNC VGNC:108130
Mus musculus GNAS MGD MGI:95777
Canis familiaris GNAS VGNC VGNC:54650
Rattus norvegicus GNAS RGD RGD:2716
Others GNAS NCBI