BMP4 - bone morphogenetic protein 4 Gene

Also Known as ZYME; BMP2B; OFC11; BMP2B1; MCOPS6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 652

About BMP4

Cytogenetic location: 14q22.2 Genomic coordinates (GRCh38): 14:53,949,736-53,956,891 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues, 31 paralogues and is associated with 7 phenotypes. Broad expression in placenta (RPKM 12.6), urinary bladder (RPKM 7.5) and 20 other tissues.

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

BMP4 Products (9)

mRNA	Protein	Name
NM_001202.6	NP_001193.2	bone morphogenetic protein 4 isoform a preproprotein
NM_001347912.1	NP_001334841.1	bone morphogenetic protein 4 isoform b
NM_001347913.2	NP_001334842.1	bone morphogenetic protein 4 isoform c
NM_001347914.2	NP_001334843.1	bone morphogenetic protein 4 isoform a preproprotein
NM_001347915.2	NP_001334844.1	bone morphogenetic protein 4 isoform c
NM_001347916.1	NP_001334845.1	bone morphogenetic protein 4 isoform a preproprotein
NM_001347917.1	NP_001334846.1	bone morphogenetic protein 4 isoform c
NM_130850.5	NP_570911.2	bone morphogenetic protein 4 isoform a preproprotein
NM_130851.4	NP_570912.2	bone morphogenetic protein 4 isoform a preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables BMP receptor binding	IDA IDA: Inferred from direct assay	7811286	GOA
enables chemoattractant activity	IDA IDA: Inferred from direct assay	12631064	GOA
enables co-receptor binding	IPI IPI: Inferred from physical interaction	16604073	GOA
enables cytokine activity	IDA IDA: Inferred from direct assay	14749725	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8413626	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	9389648	GOA
acts upstream of or within BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	17472960	GOA
involved in BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	17992660	GOA
involved in blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA IDA: Inferred from direct assay	18787191	GOA
involved in branching involved in ureteric bud morphogenesis	IDA IDA: Inferred from direct assay	12631064	GOA
acts upstream of or within bronchus development	IDA IDA: Inferred from direct assay	8674409	GOA
acts upstream of or within bud dilation involved in lung branching	IDA IDA: Inferred from direct assay	8674409	GOA
involved in cellular response to BMP stimulus	IMP IMP: Inferred from mutant phenotype	18326817	GOA
acts upstream of or within epithelial cell proliferation involved in lung morphogenesis	IDA IDA: Inferred from direct assay	8674409	GOA
acts upstream of or within epithelial tube branching involved in lung morphogenesis	IDA IDA: Inferred from direct assay	8674409	GOA
involved in heart induction	IMP IMP: Inferred from mutant phenotype	20702560	GOA
involved in heart morphogenesis	IMP IMP: Inferred from mutant phenotype	20702560	GOA
involved in hematopoietic progenitor cell differentiation	IDA IDA: Inferred from direct assay	15451575	GOA
involved in intermediate mesodermal cell differentiation	IDA IDA: Inferred from direct assay	10021330	GOA
involved in kidney development	IMP IMP: Inferred from mutant phenotype	18305125	GOA
acts upstream of or within lung alveolus development	IDA IDA: Inferred from direct assay	8674409	GOA
acts upstream of or within lung morphogenesis	IDA IDA: Inferred from direct assay	8674409	GOA
involved in lung vasculature development	IMP IMP: Inferred from mutant phenotype	17992660	GOA
involved in lymphoid progenitor cell differentiation	IMP IMP: Inferred from mutant phenotype	12421925	GOA
involved in macrophage differentiation	IDA IDA: Inferred from direct assay	21149635	GOA
involved in mesonephros development	IEP IEP: Inferred from expression pattern	18437684	GOA
involved in monocyte differentiation	IDA IDA: Inferred from direct assay	21149635	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12631064	GOA
involved in negative regulation of T cell differentiation in thymus	IMP IMP: Inferred from mutant phenotype	12421925	GOA
involved in negative regulation of branching involved in ureteric bud morphogenesis	IDA IDA: Inferred from direct assay	12141440	GOA
involved in negative regulation of cell cycle	IDA IDA: Inferred from direct assay	11502704	GOA
acts upstream of or within negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	9187146	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	20702560	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	28124060	GOA
involved in negative regulation of glomerular mesangial cell proliferation	IDA IDA: Inferred from direct assay	17244894	GOA
involved in negative regulation of glomerulus development	IDA IDA: Inferred from direct assay	12141440	GOA
involved in negative regulation of immature T cell proliferation in thymus	IMP IMP: Inferred from mutant phenotype	12421925	GOA
involved in negative regulation of mesenchymal cell proliferation involved in ureter development	IDA IDA: Inferred from direct assay	12399320	GOA
involved in negative regulation of metanephric S-shaped body morphogenesis	IDA IDA: Inferred from direct assay	12141440	GOA
involved in negative regulation of metanephric comma-shaped body morphogenesis	IDA IDA: Inferred from direct assay	12141440	GOA
involved in negative regulation of miRNA transcription	IDA IDA: Inferred from direct assay	28124060	GOA
involved in negative regulation of mitotic nuclear division	IDA IDA: Inferred from direct assay	17244894	GOA
acts upstream of or within negative regulation of myoblast differentiation	IDA IDA: Inferred from direct assay	14749725	GOA
acts upstream of or within negative regulation of striated muscle tissue development	IDA IDA: Inferred from direct assay	14749725	GOA
involved in negative regulation of thymocyte apoptotic process	IMP IMP: Inferred from mutant phenotype	12421925	GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9187146	GOA
involved in nephric duct formation	IDA IDA: Inferred from direct assay	10021330	GOA
involved in odontogenesis	IGI IGI: Inferred from genetic interaction	11023873	GOA
involved in osteoblast differentiation	IDA IDA: Inferred from direct assay	17720811	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	17600318	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	9389648	GOA
involved in positive regulation of SMAD protein signal transduction	IMP IMP: Inferred from mutant phenotype	17992660	GOA
acts upstream of or within positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	9187146	GOA
acts upstream of or within positive regulation of bone mineralization	IDA IDA: Inferred from direct assay	14749725	GOA
involved in positive regulation of bone mineralization	IDA IDA: Inferred from direct assay	14749725	GOA
involved in positive regulation of cardiac muscle fiber development	IMP IMP: Inferred from mutant phenotype	20702560	GOA
acts upstream of or within positive regulation of cartilage development	IDA IDA: Inferred from direct assay	3201241	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	15516325	GOA
involved in positive regulation of collagen biosynthetic process	IDA IDA: Inferred from direct assay	17720811	GOA
involved in positive regulation of epidermal cell differentiation	IDA IDA: Inferred from direct assay	18823971	GOA
involved in positive regulation of epithelial cell proliferation	IDA IDA: Inferred from direct assay	11865031	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	24906886	GOA
acts upstream of or within positive regulation of ossification	IDA IDA: Inferred from direct assay	14749725	GOA
acts upstream of or within positive regulation of osteoblast differentiation	IDA IDA: Inferred from direct assay	14749725	GOA
involved in positive regulation of osteoblast differentiation	IDA IDA: Inferred from direct assay	18436533	GOA
involved in positive regulation of p38MAPK cascade	IDA IDA: Inferred from direct assay	17600318	GOA
involved in positive regulation of primary miRNA processing	IDA IDA: Inferred from direct assay	18548003	GOA
acts upstream of or within positive regulation of programmed cell death	IDA IDA: Inferred from direct assay	8674409	GOA
acts upstream of or within positive regulation of protein binding	IDA IDA: Inferred from direct assay	23610558	GOA
acts upstream of or within positive regulation of protein phosphorylation	IDA IDA: Inferred from direct assay	14749725	GOA
involved in positive regulation of smooth muscle cell proliferation	IDA IDA: Inferred from direct assay	17600318	GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9187146	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15516325	GOA
involved in positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	18326817	GOA
acts upstream of or within post-embryonic development	IDA IDA: Inferred from direct assay	8674409	GOA
involved in regulation of cell fate commitment	IDA IDA: Inferred from direct assay	18823971	GOA
NOT involved in regulation of miRNA transcription	IMP IMP: Inferred from mutant phenotype	18548003	GOA
acts upstream of or within regulation of protein import into nucleus	IDA IDA: Inferred from direct assay	22529382	GOA
involved in secondary heart field specification	IMP IMP: Inferred from mutant phenotype	20702560	GOA
involved in smooth muscle tissue development	IEP IEP: Inferred from expression pattern	17850284	GOA
acts upstream of or within telencephalon development	IDA IDA: Inferred from direct assay	9187146	GOA
acts upstream of or within trachea development	IDA IDA: Inferred from direct assay	8674409	GOA
involved in type B pancreatic cell development	IDA IDA: Inferred from direct assay	11865031	GOA
acts upstream of or within ureteric bud development	IDA IDA: Inferred from direct assay	12141440	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	16604073	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

BMP4 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
408 a.a.

Protein Preferred Names	Protein Names
bone morphogenetic protein 4	bone morphogenetic protein 2B

BMP4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BMP4	P12644	BMPR1A	Homo sapiens	P36894	SPR	21054789

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BMP4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7007	BMP-4 Protein, Human	P12644 (S293-R408)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P7007A	BMP-4 Protein, Human (His)	P12644 (S293-R408)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700027AF	Animal-Free BMP-4 Protein, Human (His)	P12644 (K303-R408)	≥ 95%, as determined by reducing SDS-PAGE.

BMP4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82540	BMP-4 Antibody (YA2285)	WB, ICC/IF, IP	Human
HY-P82540A	BMP-4 Antibody (YA2285)(PBS only)	WB, ICC/IF, IP	Human
HY-P84077	BMP-4 Antibody (YA3774)	WB, ICC/IF, FC, ELISA	Human, Rat
HY-P84077A	BMP-4 Antibody (YA3774)(PBS only)	WB, ICC/IF, FC, ELISA	Human, Rat
HY-P85061	BMP-4 Antibody (YA4753)	WB, ELISA	Human

Related Diseases

Diseases	Alias
Microphthalmia, Syndromic 6	MCOPS6 Microphthalmia And Pituitary Anomalies Microphthalmia With Brain And Digit Anomalies Microphthalmia With Brain And Digit Developmental Anomalies Syndromic Microphthalmia Type 6 Syndromic Microphthalmia 6 Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia Bakrania-Ragge Syndrome Orofacial Cleft 11 Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia Microphthalmia Syndromic 6 Microphthalmia, Syndromic, 6 Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia Microphthalmia Syndromic, Type 6
Orofacial Cleft 11	OFC11 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 11 Nonsyndromic Cleft Lip With Or Without Cleft Palate 11 Non-Syndromic Orofacial Cleft 11 Chcl Cleft Lip Congenital Healed Congenital Healed Cleft Lip Non-Syndromic Cleft Lip/Palate 11 Non-Syndromic Cleft Lip With Or Without Cleft Palate 11 Orofacial Cleft, Type 11 Cleft Lip, Congenital Healed
Renal Hypodysplasia/Aplasia 3	RHDA3 Renal Agenesis, Unilateral Unilateral Renal Agenesis
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Fibrodysplasia Ossificans Progressiva	Myositis Ossificans Progressiva Progressive Myositis Ossificans FOP Progressive Ossifying Myositis Myositis Ossificans Stone Man Syndrome Man Of Stone Myositis Ossificans Progressive Diffuse Progressive Ossifying Polymyositis Fibrodysplasia Ossificans Congenita Myositis Ossificans Progressiva, Site Unspecified Münchmeyer Disease Fop - [Fibrodysplasia Ossificans Progressiva] Progressive Myositis Ossificans Calcification
Cleft Lip/Palate	Cleft Lip And Palate Alveolar Cleft Lip And Palate Cleft Lip-Alveolus-Palate Syndrome Flp
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Embryonal Carcinoma	Embryonal Neoplasm Embryonal Cancer Primary Extragonadal Embryonal Carcinoma Embryo Neoplasm Carcinoma Embryonal Cancer Embryonal Carcinoma, Embryonal Extragonadal Embryonal Carcinoma Cancer, Embryonal
Orofacial Cleft	Cleft, Orofacial
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
Ankylosis
Short Syndrome	Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay Aarskog-Ose-Pande Syndrome Lipodystrophy, Partial, With Rieger Anomaly And Short Stature Lipodystrophy-Rieger Anomaly-Diabetes Syndrome Rieger Anomaly-Partial Lipodystrophy Syndrome Partial Lipodystrophy With Rieger Anomaly And Short Stature Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly And Teething Delay Growth Retardation-Rieger Anomaly Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay SHORTS
Bullous Keratopathy	Bk - [Bullous Keratopathy]
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
Otosclerosis	Otospongiosis
Open-Angle Glaucoma	Glaucoma Simplex Pigmentary Glaucoma Wide-Angle Glaucoma Glaucoma, Open-Angle Open Angle Glaucoma Glaucoma Open-Angle Chronic Simple Glaucoma Coag - [Chronic Open-Angle Glaucoma] Csg - [Chronic Simple Glaucoma] Poag - [Primary Open-Angle Glaucoma] Oag - [Open-Angle Glaucoma] Chronic Glaucoma Chronic Open Angle Glaucoma Simple Glaucoma Chronic Noncongestive Glaucoma Ltg - [Low Tension Glaucoma] Noncongestive Glaucoma Nonobstructive Glaucoma Normal Pressure Glaucoma Primary Low Tension Glaucoma Low-Tension Glaucoma Residual Stage Low Tension Glaucoma Open Cleft Glaucoma
Pulmonary Hypertension	Primary Pulmonary Hypertension Hypertension Pulmonary Hypertension, Pulmonary Hypertension, Pulmonary, Primary Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Pulmonary Htn - [Hypertension]
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Pilomatrixoma	Pilomatricoma PTR Epithelioma Calcificans Of Malherbe Benign Pilomatricoma Calcifying Epithelioma Of Malherbe Pilomatricoma, Somatic Benign Pilomatrixoma Malherbe Calcifying Epithelioma
Syngnathia	Cleft Palate-Lateral Synechia Syndrome Cpls Syndrome Cleft Palate Lateral Synechia Syndrome
Hypospadias	Hypospadias Familial Familial Hypospadias
Cardiac Arrest	Cardiopulmonary Arrest Circulatory Arrest Heart Arrest
Myositis Ossificans	Myisitis Ossificans Ossification - Muscle
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
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
Cloacal Exstrophy	Oeis Complex Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex Cloacal Exstrophy Sequence Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Omphalocele Exstrophy Imperforate Anus
Hereditary Mixed Polyposis Syndrome	Hmps
Germ Cell And Embryonal Cancer	Germ Cell And Embryonal Neoplasm
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	Exstrophy-Epispadias Complex Bladder Exstrophy-Epispadias-Cloacal Extrophy Complex Beec Eec Exstrophy Of The Bladder Bladder Exstrophy Bladder Exstrophy And Epispadias Complex
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Cardiomyopathy, Familial Restrictive, 3	RCM3 Restrictive Cardiomyopathy 3 Familial Restrictive Cardiomyopathy 3 Cardiomyopathy, Familial Restrictive 3 Cardiomyopathy, Restrictive, Familial, Type 3
Ossification Of The Posterior Longitudinal Ligament Of Spine	OPLL Ossification Of The Posterior Longitudinal Ligament Of The Spine Ossification Of Posterior Longitudinal Ligament Of Spine Ossification, Posterior Longitudinal Ligament Spine
Syndromic Microphthalmia	Microphthalmia, Syndromic
Microphthalmia, Syndromic 3	MCOPS3 Aeg Syndrome Microphthalmia And Esophageal Atresia Syndrome Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-Esophageal-Genital Syndrome Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System Syndromic Microphthalmia 3 Sox2 Anophthalmia Syndrome Anophthalmia Clinical With Associated Anomalies Anophthalmia Esophageal Genital Syndrome Anophthalmia Microphthalmia Esophageal Atresia Syndromic Microphthalmia Type 3 Sox2-Related Eye Disorders Anophthalmia, Clinical, With Associated Anomalies Syndromic Microphthalmia, Type 3 Microphthalmia, Syndromic, 3 Anophthalmia/Microphthalmia-Esophageal Atresia Microphthalmia Syndromic, Type 3
Juvenile Polyposis Syndrome	JPS Juvenile Intestinal Polyposis Jip Pji Juvenile Gastrointestinal Polyposis Juvenile Polyposis Polyposis, Juvenile Intestinal Polyposis, Familial, Of Entire Gastrointestinal Tract Polyposis Familial Of Entire Gastrointestinal Tract Polyposis Juvenile Intestinal Polyposis Syndrome, Juvenile
Proximal Symphalangism	Cushing'S Symphalangism Symphalangism, Proximal Hereditary Absence Of Proximal Interphalangeal Joints Strasburger-Hawkins-Eldridge Syndrome Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b Vessel'S Syndrome Symphalangism, Cushing Type
Ulnar-Mammary Syndrome	Schinzel Syndrome UMS Pallister Ulnar-Mammary Syndrome Ulnar-Mammary Syndrome Of Pallister
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
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
Germ Cell Cancer	Malignant Germ Cell Tumor Neoplasms, Germ Cell And Embryonal Germ Cell Neoplasm Germ Cell Tumour Malignant Tumor Of The Germ Cell Neoplasms Germ Cell Malignant Germ Cell Neoplasm
Rhabdomyosarcoma
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
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Papillorenal Syndrome	Renal Coloboma Syndrome Coloboma Of Optic Nerve With Renal Disease Renal-Coloboma Syndrome Optic Nerve Coloboma With Renal Disease Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies Renal-Coloboma Syndrome With Macular Abnormalities Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities Cakut With Or Without Ocular Abnormalities PAPRS Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease Coloboma-Ureteral-Renal Syndrome Oncr Optic Nerve Coloboma Renal Syndrome Rcs Papillo-Renal Syndrome Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
Chromosome 10q23 Deletion Syndrome
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Spinal Cord Lipoma	Lipoma Of Spinal Cord
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Congenital Anomalies Of Kidney And Urinary Tract 2	CAKUT2 Ureteropelvic Junction Obstruction Multicystic Renal Dysplasia, Bilateral Pelviureteric Junction Obstruction Pujo Hydronephrosis Due To Pujo Upjo Mcrd Congenital Anomalies Of The Kidney And Urinary Tract 2 Mrd Pelvi-Ureteric Junction Obstruction Kidney And Urinary Tract, Anomalies, Congenital, Type 2 Obstruction Of Pelviureteric Junction
Renal Hypodysplasia/Aplasia 1	Renal Agenesis Renal Adysplasia Renal Aplasia RHDA1 Hereditary Renal Aplasia Hra Hereditary Urogenital Adysplasia Hypodysplasia/Aplasia, Renal, Type 1 Congenital Absence Of Kidneys Syndrome Congenital Absence Of Kidney Aplastic Kidney
Scoliosis
Chronic Pulmonary Heart Disease
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Intraocular Pressure Quantitative Trait Locus	Glaucoma IOPQTL Glaucoma, Susceptibility To Postinfectious Glaucoma Glaucoma With Ocular Inflammation Glaucoma Secondary To Eye Inflammation Traumatic Glaucoma Glaucoma With Concussion Of Globe Glaucoma Due To Ocular Trauma Glaucoma Associated With Ocular Trauma Glaucoma Secondary To Drugs
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Physical Disorder	Physical Illness
Brachydactyly, Type A2	Brachydactyly Type A2 BDA2 Mohr-Wriedt Type Brachydactyly Brachymesophalangy Ii Brachymesophalangy Type 2 Brachymesophalangy 2 Brachydactyly, Mohr-Wriedt Type Brachydactyly A2
Axenfeld-Rieger Syndrome	Axenfeld Syndrome Rieger Syndrome Rieger Anomaly Axenfeld Anomaly Anomaly, Rieger'S Hagedoom Syndrome Rgs - Rieger Syndrome Rieger'S Anomaly Goniodysgenesis Hypodontia Iridogoniodysgenesis With Somatic Anomalies Ars Axenfeld And Rieger Anomaly Axra Axrs Rieger Eye Malformation Sequence
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Donnai-Barrow Syndrome	Faciooculoacousticorenal Syndrome Dbs/Foar Syndrome Foar Syndrome Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome Facio-Oculo-Acoustico-Renal Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome Holmes-Schepens Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness DBS Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss Donnai Barrow Syndrome
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Agnathia-Otocephaly Complex	Otocephaly Holoprosencephaly-Agnathia Dysgnathia Complex Agnathia-Holoprosencephaly AGOTC Agnathia-Holoprosencephaly-Situs Inversus Syndrome Dysgnathia Complex Agnathia-Holoprosencephaly Cervical Auricle
Synostosis
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Christ-Siemens-Touraine Syndrome XHED Ectodermal Dysplasia 1 Xlhed Ed1 Cst Syndrome Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked Ectd1 Ectodermal Dysplasia, Anhidrotic, X-Linked Eda Eda1 Hed1 Ectodermal Dysplasia 1, Anhidrotic X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia Hypohidrotic X-Linked Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic, 1 Hypohidrotic Ectodermal Dysplasia, X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia X-Linked Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked Ectodermal Dysplasia Anhidrotic
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Sclerocornea	Isolated Congenital Sclerocornea
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Jackson-Weiss Syndrome	JWS Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities
Branchiooculofacial Syndrome	Branchio-Oculo-Facial Syndrome BOFS Bof Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging Bofs Syndrome Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Branchiootorenal Syndrome	Branchio-Oto-Renal Syndrome Bor Syndrome Branchiootorenal Dysplasia Melnick-Fraser Syndrome Branchiootorenal Spectrum Disorders Branchio-Otorenal Dysplasia Branchio Oto Renal Syndrome Branchiootorenal/Branchiootic Syndrome Bo Syndrome Bor Bos Branchio-Otorenal Syndrome Branchiootic Syndrome Branchiootorenal Syndrome Branchiootic Syndrome 1
Lacrimoauriculodentodigital Syndrome	Ladd Syndrome Levy-Hollister Syndrome Lacrimo-Auriculo-Dento-Digital Syndrome LADD Lacrimoauriculodento-Digital Syndrome Levy Hollister Syndrome Lard Syndrome Lacrimoauriculoradiodental Syndrome LADDS Congenital Duodenal Obstruction Due To Malrotation Of Intestine
Bone Development Disease
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
Hereditary Hemorrhagic Telangiectasia	Rendu-Osler-Weber Disease Hht Osler-Weber-Rendu Disease Telangiectasia, Hereditary Hemorrhagic Osler Hemorrhagic Telangiectasia Syndrome Orw Disease Osler Weber Rendu Syndrome Osler-Rendu-Weber Disease Osler-Weber-Rendu Syndrome Rendu-Osler Disease Telangiectasia Hereditary Hemorrhagic Telangiectasia Hemorrhagic, Hereditary Hht - [Hereditary Haemorrhagic Telangiectasia] Osler Haemorrhagic Telangiectasia Syndrome
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
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
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Diabetes Mellitus	Diabetes
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
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
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (13)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-124697	BMP signaling agonist sb4	Agonist	99.98%	Unkown
HY-16712	LDN-214117	Inhibitor	99.54%	Unkown
HY-18961	PD 407824	Inhibitor	99.00%	Unkown
HY-147372	SJ000063181	Activator	98.92%	Unkown
HY-N0836	Jervine		99.28%	Unkown
HY-P10710A	BMP-4 (15-24) acetate	Inhibitor	99.30%	Unkown
HY-N9409	2-Hydroxymelatonin		/	Unkown
HY-P10710	BMP-4 (15-24)	Inhibitor	/	Unkown
HY-RS01539	BMP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-179400	LDN-193688	Inhibitor	/	Unkown
HY-N0836A	Jervine hydriodide		/	Unkown
HY-RS16511	Bmp4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22943	Bmp4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991879	Anti-BMP-4 Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BMP4	VGNC	VGNC:26519
Felis catus	BMP4	VGNC	VGNC:60133
Macaca mulatta	BMP4	VGNC	VGNC:70263
Canis familiaris	BMP4	VGNC	VGNC:38480
Mus musculus	BMP4	MGD	MGI:88180
Rattus norvegicus	BMP4	RGD	RGD:2213
Others	BMP4	NCBI