SHH - sonic hedgehog signaling molecule Gene

Also Known as TPT; HHG1; HLP3; HPE3; SMMCI; ShhNC; TPTPS; MCOPCB5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6469

About SHH

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:155,799,980-155,812,463 (from NCBI)

This gene has 5 transcripts (splice variants), 261 orthologues, 2 paralogues and is associated with 21 phenotypes. Biased expression in stomach (RPKM 3.1), urinary bladder (RPKM 2.9) and 10 other tissues.

Summary

This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic Hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a Cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]

SHH Products (2)

mRNA	Protein	Name
NM_000193.4	NP_000184.1	sonic hedgehog protein isoform 1 preproprotein
NM_001310462.2	NP_001297391.1	sonic hedgehog protein isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	19561609	GOA
enables patched binding	IDA IDA: Inferred from direct assay	8906787	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19561609	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	19561609	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IDA IDA: Inferred from direct assay	17227833	GOA
acts upstream of or within epithelial-mesenchymal cell signaling	IDA IDA: Inferred from direct assay	12221011	GOA
involved in lymphoid progenitor cell differentiation	IMP IMP: Inferred from mutant phenotype	14764698	GOA
involved in metanephric collecting duct development	IEP IEP: Inferred from expression pattern	17850284	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10654605	GOA
involved in positive regulation of cell division	IDA IDA: Inferred from direct assay	11331587	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	11331587	GOA
involved in positive regulation of sclerotome development	IDA IDA: Inferred from direct assay	10654605	GOA
involved in positive regulation of smoothened signaling pathway	IDA IDA: Inferred from direct assay	19561609	GOA
involved in regulation of protein localization to nucleus	IDA IDA: Inferred from direct assay	11331587	GOA
involved in smooth muscle tissue development	IEP IEP: Inferred from expression pattern	17850284	GOA
involved in smoothened signaling pathway	IDA IDA: Inferred from direct assay	31279575	GOA
involved in smoothened signaling pathway	IEP IEP: Inferred from expression pattern	17850284	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18534984	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18534984	GOA
located in extracellular region	IDA IDA: Inferred from direct assay	24342078	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	19561609	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

SHH Protein Structure

HH_signal

Hint

0
100
200
300
400
462 a.a.

Protein Preferred Names	Protein Names
sonic hedgehog protein	shh unprocessed N-terminal signaling and C-terminal autoprocessing domains

SHH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SHH	Q15465	PTCH1	Homo sapiens	Q13635-1	3D-EM	29954986
Intra	SHH	Q15465	HHIP	Homo sapiens	Q96QV1	ELISA	19561609
Intra	SHH	Q15465	HHIP	Homo sapiens	Q96QV1	BLI	19561609
Intra	SHH	Q15465	PTCH1	Homo sapiens	Q13635	NMR	19561609

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SHH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7407	SHH Protein, Human (C24II)	Q15465 (C24-G197, C24II)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P7408	SHH Protein, Human (C24IVI)	Q15465 (G25-G197)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P70467	SHH Protein, Human	Q15465 (C24-G197)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P73417	SHH Protein, Human (HEK293, His)	Q15465 (M1-G197)	≥ 95%, as determined by reducing SDS-PAGE.

SHH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81157	Shh Antibody	WB, ELISA, IHC-P, IHC-F, ICC/IF	Human, Mouse, Rat
HY-P84589	Shh Antibody (YA4286)	WB, IHC-P, FC, ELISA	Human, Mouse, Monkey
HY-P84589A	Shh Antibody (YA4286)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse, Monkey
HY-P85366	Shh Antibody (YA5058)	WB; IHC-P; IHC-F; ICC/IF; IF-Tissue; FC	Human

Related Diseases

Diseases	Alias
Holoprosencephaly 3	HPE3 Hlp3 Holoprosencephaly-3 Holoprosencephaly, Type 3
Solitary Median Maxillary Central Incisor	SMMCI Fused Incisors Single Upper Central Incisor Single Central Maxillary Incisor Single Median Maxillary Central Incisor Solitary Median Maxillary Central Incisor Syndrome Incisors Fused Incisors, Fused
Microphthalmia, Isolated, With Coloboma 5	MCOPCB5 Microphthalmia With Coloboma 5 Microphthalmia, Isolated, With Coloboma, 5 Isolated Colobomatous Microphthalmia 5 Microphthalmia, Isolated, With Coloboma, Type 5
Schizencephaly	Familial Schizencephaly Acquired Schizencephaly SCHZC Schizencephalia
Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome
Corpus Callosum, Partial Agenesis Of, X-Linked	X-Linked Complicated Corpus Callosum Dysgenesis Corpus Callosum, Partial Agenesis Of Partial Agenesis Of The Corpus Callosum Partial Agenesis Of Corpus Callosum Agenesis Of The Corpus Callosum, X-Linked, Partial ACCPX Agenesis, Corpus Callosum, Partial
Syndactyly, Type Iv	Syndactyly Type 4 Polysyndactyly, Haas Type SDTY4 Haas Type Syndactyly Sd4 Polysyndactyly Type Haas Syndactyly 4 Polysyndactyly Haas Type Syndactyly Type Iv
Radial Hemimelia	Radial Clubhand Congenital Longitudinal Deficiency Of The Radius Radial Longitidinal Meromelia Radial Ray Agenesis Radial Club Hand Longitudinal Reduction Defect Of Radius Agenesis Of Radial Ray Agenesis Of Radius Congenital Absence Of Radius Congenital Absence Of Radius With Or Without Absence Of Some Distal Elements Congenital Absence Of Radius With Or Without Absence Of Some, But Not All, Distal Elements Congenital Club Hand Congenital Clubhand Congenital Short Radius Manus Vara Talipomanus Total Radial Absence
Semilobar Holoprosencephaly
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Hypoplastic Or Aplastic Tibia With Polydactyly Absence Of Tibia With Polydactyly Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome THYP Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia Absent Tibia-Polydactyly Syndrome Werner Mesomelic Syndrome Hypoplastic Tibiae-Postaxial Polydactyly Syndrome Polydactyly With Absent Tibia Werner Mesomelic Spectrum Hypoplasia Or Aplasia Of Tibia With Polydactyly Wms Tibia, Hypoplasia Of, With Polydactyly
Polydactyly, Preaxial Ii	PPD2 Polydactyly Of A Triphalangeal Thumb Polydactyly, Preaxial Type Ii Triphalangeal Thumb, Type I Preaxial Polydactyly Type 2 Triphalangeal Thumb-Polysyndactyly Syndrome Polydactyly Of Triphalangeal Thumb Triphalangeal Thumb-Polydactyly Syndrome Preaxial Polydactyly 2 TPTPS Polydactyly, Preaxial, Type Ii
Microform Holoprosencephaly	Hpe, Minor Form Hpe-L Holoprosencephaly, Minor Form Holoprosencephaly-Like Microform Hpe
Midline Interhemispheric Variant Of Holoprosencephaly	Mih Mih Type Hpe Mihf Mihv Middle Interhemispheric Fusion Variant Middle Interhemispheric Variant Of Holoprosencephaly Syntelencephaly
Lobar Holoprosencephaly
Septopreoptic Holoprosencephaly	Septopreoptic Hpe
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Alobar Holoprosencephaly
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Laurin-Sandrow Syndrome	Sandrow Syndrome Tetramelic Mirror-Image Polydactyly Mirror-Image Polydactyly Mirror Hands And Feet With Nasal Defects Tmip LSS Mip Mirror Hands And Feets-Nasal Defects Syndrome Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius Miccor Hands And Feet With Nasal Defects Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius Fibula Ulna Duplication Tibia Radius Absence Laurin Sandrow Syndrome Duplication Of Fibula And Ulna With Absence Of Tibia And Radius Segmental Laurin-Sandrow Syndrome Laurin-Sandrow Syndrome, Segmental
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Large Cell Medulloblastoma
Cerebellar Medulloblastoma
Basal Cell Carcinoma	Basal Cell Cancer Basal Cell Neoplasm Basal Cell Carcinoma Of Skin Malignant Basal Cell Tumor Basal Cell Tumor Epithelioma Basal Cell Malignant Basal Cell Neoplasm Rodent Ulcer Carcinoma Basal Cell Neoplasms, Basal Cell Basal Cell Carcinomas Experimental Organism Basal Cell Carcinoma Nodulo-Ulcerative Basal Cell Carcinoma Basalioma Basal Cell Epithelioma Of Skin Bcc - [Basal Cell Carcinoma] Of Skin Rodent Ulcer Of Skin Rodent Ulcer Of Unspecified Site Basal Cell Epithelioma Of Unspecified Site
Brain Stem Ependymoma	Ependymoma Of The Brainstem
Brain Stem Medulloblastoma
Adult Medulloblastoma	Adult Brain Medulloblastoma Medulloblastoma, Adult
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
Desmoplastic Nodular Medulloblastoma	Medulloblastoma With Extensive Nodularity Nodular Medulloblastoma Desmoplastic/Nodular Medulloblastoma Mben Medulloblastoma, With Extensive Nodularity
Infratentorial Cancer	Infratentorial Neoplasms Brain Neoplasm, Infratentorial Malignant Infratentorial Tumors
Cerebellar Vermis Medulloblastoma	Vermis Medulloblastoma
Cerebellum Cancer	Cerebellar Neoplasms Cerebellar Cancer Malignant Tumor Of Cerebellum Malignant Neoplasm Of Cerebellum
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
Holoprosencephaly 1	Arhinencephaly HPE1 Cyclopia Holoprosencephaly, Familial Alobar Hpe, Familial Hpec Demyer Sequence Holoprosencephaly-1
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
Melanotic Medulloblastoma	Medulloblastoma, Melanotic
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
Blastoma	Embryoma
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Medulloblastoma Wnt Activated
Medulloblastoma Shh Activated
Greig Cephalopolysyndactyly Syndrome	GCPS Polysyndactyly With Peculiar Skull Shape Polysyndactyly With Peculiars Skull Shape Greig Syndrome Cephalopolysyndactyly Syndrome Greig Cephalo-Poly-Syndactyly Syndrome Cephalopolysyndactyly, Greig Syndrome Aarskog Syndrome
Choroid Plexus Cancer	Choroid Plexus Carcinoma Choroid Plexus Neoplasms Choroid Plexus Neoplasm Tumor Of Choroid Plexus Tumor Of The Choroid Plexus Choroid Plexus Tumor Choroid Plexus Tumors Anaplastic Choroid Plexus Papilloma Choroid Plexus Papilloma Nos Papilloma Of Choroid Plexus Plexus Choroideus Papilloma Choroid Plexus Papilloma In Fourth Ventricle Plexus Choroideus Papilloma In Fourth Ventricle
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Basal Cell Nevus Syndrome	Nevoid Basal Cell Carcinoma Syndrome Gorlin Syndrome Nbccs BCNS Gorlin-Goltz Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Cerebral Gigantism Jaw Cysts Cramer Niederdellmann Syndrome Gorlin Syndrome Or Gorlin-Goltz Syndrome Naevoid Basal Cell Carcinoma Syndrome
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Teratoma	Teratomas
Medullomyoblastoma
Currarino Syndrome	Currarino Triad Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation CURRAS
Hypospadias	Hypospadias Familial Familial Hypospadias
Acrocapitofemoral Dysplasia	ACFD Dysplasia, Acrocapitofemoral
Adamantinous Craniopharyngioma	Adamantinous Rathke'S Pouch Tumor Craniopharyngioma, Adamantinomatous Adamantinomatous Craniopharyngioma
Holoprosencephaly 4	HPE4 Holoprosencephaly-4 Holoprosencephaly, Type 4
Vacterl Association	Vater Association Vater Syndrome
Hypopituitarism	Pituitary Hypofunction Pituitary Insufficiency Pituitary Hormone Deficiency Subpituitarism Hypophyseal Dystrophy Hypohypophysism Anterior Pituitary Insufficiency Deficient Secretion Of One Or More Pituitary Hormones Hypopituitarism Syndrome Pituitary Deficiency Pituitary Failure Pituitary Insufficiency Nos Anterior Pituitary Hypofunction Deficient Secretion Of All Pituitary Hormones Hypopituitary Dwarfism Hyposomatotropic Dwarfism Hypophyseal Dwarfism Hypopituitary Cachexia Hypophyseal Short Stature Panhypopituitarism Syndrome Pituitary Cachexia Juvenile Hypopituitarism Pituitary Dwarfism Pituitary Gland Hypofunction Primary Hypopituitarism Secondary Hypogonadism Prepubertal Panhypopituitarism Prepubertal Dwarfism Postpartum Panhypopituitary Syndrome Postpartum Hypopituitarism Pituitary Short Stature Pituitary Infantilism Pituitary Hypogonadism Pituitary Hypoadrenocorticism
Focal Dermal Hypoplasia	Goltz Syndrome Goltz-Gorlin Syndrome FDH FODH Dhof Goltz Gorlin Syndrome Hypoplasia, Dermal, Focal
Adult Central Nervous System Primitive Neuroectodermal Neoplasm	Adult Cns Pnet Adult Central Nervous System Primitive Neuroectodermal Tumor
Culler-Jones Syndrome	Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome CJS Pallister-Hall Syndrome 2, Formerly Phs2, Formerly Pallister-Hall Syndrome 2 Phs2
Astigmatism
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Childhood Medulloblastoma	Medulloblastoma, Childhood Pediatric Medulloblastoma Medulloblastoma Childhood
Atypical Teratoid Rhabdoid Tumor	Rhabdoid Tumor Predisposition Syndrome Rtps Atypical Teratoid/Rhabdoid Tumor Rhabdoid Predisposition Syndrome Familial Posterior Fossa Brain Tumor Of Infancy Familial Rhabdoid Tumor At/Rt Atypical Teratoid Rhabdoid Tumour Atypical Teratoid/Rhabdoid Tumour Rhabdoid Tumor Of The Cns Rhabdoid Tumour Of The Cns Familial Posterior Fossa Brain Tumor Syndrome Hereditary Swi/Snf Deficiency Syndrome Atrt
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Brachydactyly
Hypertrichosis
Medulloblastoma Shh Activated And Tp53 Wild-Type	Medulloblastoma Shh-Activated Tp53-Wildtype
Supratentorial Primitive Neuroectodermal Tumor	Supratentorial Pnet Supratentorial Embryonal Tumor, Not Otherwise Specified Ewings Sarcoma-Primitive Neuroectodermal Tumor
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
Childhood Infratentorial Neoplasm	Pediatric Infratentorial Tumor
Acheiropody	Acheiropodia ACHP Acheiropody, Brazilian Type Horn-Kolb Syndrome Horn Kolb Syndrome Acheiropody Brazilian Type
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
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
Alopecia
Urethral Syndrome	Urethral Disease Urethral Diseases Urethra Disease Abnormality Of The Urethra Urethral Disorders
Physical Disorder	Physical Illness
Pancreas, Annular	Annular Pancreas Pancreas Annulare Congenital Annular Pancreas
Fetal Alcohol Spectrum Disorder	Fetal Alcohol Spectrum Disorders Fetal Alcohol Syndrome
Holoprosencephaly 9	Pituitary Anomalies With Holoprosencephaly-Like Features HPE9 Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies Holoprosencephaly-9 Holoprosencephaly, Type 9
Medulloblastoma Shh Activated And Tp53 Mutant
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Patau Syndrome	Trisomy 13 Complete Trisomy 13 Syndrome Trisomy 13 Syndrome D1 Trisomy Patau'S Syndrome Complete Trisomy 13 Chromosome 13, Trisomy 13 Complete D Trisomy Syndrome Bartholin-Patau Syndrome Chromosome 13 Duplication D1 Trisomy Syndrome D>1< Trisomy Syndrome Patau Chromosome 13 Trisomy Abnormal Autosomes 13
Rela Fusion-Positive Ependymoma	Supratentorial C11orf95-Rela Fused Ependymoma C11orf95 Fusion-Positive Supratentorial Ependymoma
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Holoprosencephaly 6	HPE6
Sacral Defect With Anterior Meningocele	Caudal Regression Syndrome Caudal Regression Sequence Sacral Agenesis Caudal Dysgenesis Syndrome SDAM Caudal Dysplasia Sequence Caudal Dysplasia Sacral Agenesis Syndrome Sacral Regression Syndrome Sacral Defect And Anterior Sacral Meningocele Rudd Klimek Syndrome Sirenomelia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Primary Ovarian Insufficiency 6
Agnathia-Otocephaly Complex	Otocephaly Holoprosencephaly-Agnathia Dysgnathia Complex Agnathia-Holoprosencephaly AGOTC Agnathia-Holoprosencephaly-Situs Inversus Syndrome Dysgnathia Complex Agnathia-Holoprosencephaly Cervical Auricle
Brain Cancer	Adult Brain Tumor Malignant Neoplasm Of Brain Brain Neoplasms Brain Neoplasm Neoplasm Of Brain Primary Malignant Neoplasm Of Brain Brain Tumors Adult Malignant Brain Neoplasm Brain Neoplasm, Adult Bt - Brain Tumour Malignant Brain Tumour Malignant Primary Brain Neoplasm Malignant Primary Brain Tumor Malignant Tumor Of Adult Brain Malignant Tumor Of Brain Primary Brain Neoplasm Primary Brain Tumor Tumor Of The Brain Brain Tumor, Adult Brain Tumor Primary Malignant Primary Brain Tumors Primary Brain Tumors Cancer, Brain Brain Tumor, Primary
Obstructive Hydrocephalus
Fetal Alcohol Syndrome	Fetal Alcohol Spectrum Disorders Arbd Arnd Alcohol-Related Birth Defects Alcohol-Related Neurodevelopmental Disorder Fas Fasd Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk Alcohol Related Birth Defect Alcohol Related Neurodevelopmental Disorder Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk Dysmorphism Due To Alcohol Fetal Etoh Syndrome
Hemangioma	Hemangiomas
Embryonal Tumor With Multilayered Rosettes, C19mc-Altered	Ependymoblastoma
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Holoprosencephaly 11	HPE11 Holoprosencephaly-11 Holoprosencephaly, Type 11
Orofacial Cleft	Cleft, Orofacial
Apert Syndrome	Acrocephalosyndactyly Type I Acs1 Acrocephalosyndactylia Acrocephalosyndactyly Acs I Apert-Crouzon Disease Acrocephalosyndactyly Type 1 Acrocephalosyndactyly, Type I Acs 1 Acrocephalo-Syndactyly Type 1 Syndactylic Oxycephaly Apert'S Syndrome Type I Acrocephalosyndactyly APRS
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
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
Brachydactyly, Type A1	Brachydactyly Type A1 BDA1 Farabee-Type Brachydactyly Farabee Type Brachydactyly Brachydactyly Farabee Type Brachydactyly, Farabee Type Brachydactyly A1 Brachydactyly
Rhabdomyosarcoma
Cerebral Ventricle Cancer	Cerebral Ventricle Neoplasms Cerebral Ventricle Neoplasm Intraventricular Tumor Of Brain
Supratentorial Cancer	Supratentorial Neoplasms Brain Neoplasm, Supratentorial Malignant Supratentorial Tumor Cancer, Supratentorial
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Fuhrmann Syndrome Bowing Of The Femurs, Aplasia Or Hypoplasia Of The Fibula, And Digital Anomalies Fibular Hypoplasia Or Aplasia-Femoral Bowing-Oligodactyly Syndrome Fuhrmann-Rieger-De Sousa Syndrome FUHRS Fibular Aplasia Hypoplasia Femoral Bowing And Poly- Syn- And Oligodactyly
Central Nervous System Primitive Neuroectodermal Neoplasm	Cpnet
Pineoblastoma	Pineal Pnet Pinealoma Pineal Gland Neoplasm Pineocytoma Tumor Of The Pineal Region
Cerebrum Cancer	Cerebral Cancer Neoplasm Of Cerebrum Tumor Of Cerebrum Malignant Neoplasm Of Cerebrum
Micronodular Basal Cell Carcinoma	Skin Micronodular Basal Cell Carcinoma Basal Cell Carcinoma, Micronodular
Chromosomal Duplication Syndrome
Anus Disease	Anal Fissure Ulcer Of Anus Anus Diseases Anal Disease Anal Fissure And Fistula Anal Ulcer Fissure In Ano Nontraumatic Tear Of Anus Solitary Anal Ulcer Abnormality Of The Anus Anal Disorders Ulcer Of Anus And Rectum Solitary Ulcer Of Anus Stercoral Ulcer Of Anus
Duodenal Atresia	Duodenal Stenosis Familial Duodenal Atresia
Androgenic Alopecia	Androgenetic Alopecia Alopecia Androgenetica, Male Pattern Baldness
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
Cerebrovascular Benign Neoplasm
Pineal Gland Cancer	Tumor Of The Pineal Region Malignant Pineal Region Tumor Malignant Tumor Of Pineal Gland Neoplasm Of Pineal Gland Neoplasm Of The Pineal Region Pineal Body Neoplasm Pineocytic Tumor Malignant Neoplasm Of Pineal Gland Pineal Gland Neoplasm Pineocytoma
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
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Vulva Basal Cell Carcinoma	Basal Cell Carcinoma Of Vulva Basal Cell Carcinoma Of The Vulva
Omphalocele	Omphalocoele Congenital Omphalocele Exomphalos Exumbilication
Synostosis
Tracheomalacia	Congenital Tracheomalacia Congenital Major Airway Collapse Tracheomalacia, Congenital Type 1 Tracheomalacia
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
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
Bone Development Disease
Choanal Atresia, Posterior	Choanal Atresia Atresia Of Nares Posterior Choanal Atresia PCA Imperforate Nares Choanal Fusion Congenital Stenosis Of Nares Congenital Stenosis Of Choanae Nasal Atresia Nos
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Meningocele	Isolated Spina Bifida Spina Bifida Cleft Spine Open Spine Rachischisis Spinal Dysraphism Spinal Meningocele Congenital Meningocele
Rhabdoid Cancer	Rhabdoid Tumor Malignant Rhabdoid Tumor Malignant Rhabdoid Tumour Rhabdoid Sarcoma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Atypical Teratoid Rhabdoid Tumor Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid/Rhabdoid Tumor
Mutism
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
Orofaciodigital Syndrome Viii	Edwards Syndrome Trisomy 18 Complete Trisomy 18 Syndrome OFD8 Orofaciodigital Syndrome 8 Trisomy 18 Syndrome Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis E3 Trisomy Oral-Facial-Digital Syndrome Type 8 Orofaciodigital Syndrome Type 8 Ofds Viii Oral-Facial-Digital Syndrome, Type Viii Ofd Syndrome 8 Ofds 8 Oral Facial Digital Syndrome 8 Oral Facial Digital Syndrome Type 8 18 Trisomy Chromosome 18 Trisomy Trisomy 16-18 Trisomy E Trisomy E Syndrome Chromosome 18 Duplication Oral-Facial-Digital Syndrome, Edwards Type Orofaciodigital Syndrome, Edwards Type Chromosome 18, Trisomy Cleft Lip/Palate With Abnormal Thumbs And Microcephaly Trisomy 18 Chromosome Abnormal Autosomes 18
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
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
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
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Dysostosis	Dysostoses
Tracheal Disease	Tracheal Diseases Tracheal Anomaly Tracheal Disorders
Rectal Disease	Rectal Diseases Rectal Disorders
Feingold Syndrome 1	Feingold Syndrome Oculodigitoesophagoduodenal Syndrome Oded Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum FGLDS1 Mmt Syndrome Brunner-Winter Syndrome Feingold Syndrome Type 1 Oded Moded Fglds Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Moded Syndrome Oculo-Digito-Esophageal-Duodenal Syndrome Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome Microcephaly And Digital Abnormalities With Normal Intelligence Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus, Or Duodenum Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Oculo-Digito-Esophagoduodental Syndrome Fs Mmt Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Brunner-Winter Syndrome Type 1 Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Type 1 Fs1 Mmt Type 1 Moded Syndrome Type 1 Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 Oded Syndrome Type 1 Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 Feingold Syndrome, Type 1
Diffuse Midline Glioma, H3 K27m-Mutant	Diffuse Intrinsic Pontine Glioma Dipg Infiltrative Brainstem Glioma
Skeletal Muscle Cancer	Malignant Tumor Of Skeletal Muscle Skeletal Muscle Neoplasm
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
Joubert Syndrome 8	JBTS8 Joubert Syndrome, Type 8
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Li-Fraumeni Syndrome	Sarcoma Family Syndrome Of Li And Fraumeni Sbla Syndrome LFS Li-Fraumeni Familiar Cancer Susceptibility Syndrome Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome Lfs1 Li Fraumeni Syndrome Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome Lfl Sbla Syndrome Li-Fraumeni-Like Syndrome Li-Fraumeni Syndrome 1
Cleft Palate, Cardiac Defects, And Mental Retardation	Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies CPCMR Cleft Palate, Cardiac Defects, And Intellectual Disabillity Cleft Palate, Cardiac Defects, And Intellectual Disability Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies
Fanconi Renotubular Syndrome 1	Renal Fanconi Syndrome Adult Fanconi Syndrome FRTS1 Fanconi Renotubular Syndrome Frts Rfs Fanconi Syndrome Without Cystinosis Luder-Sheldon Syndrome
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
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
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Spastic Paraplegia 76, Autosomal Recessive	SPG76 Autosomal Recessive Spastic Paraplegia Type 76 Hereditary Spastic Paraplegia 76 Autosomal Recessive Spastic Paraplegia 76 Paraplegia, Spastic, Autosomal Recessive, Type 76
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Saethre-Chotzen Syndrome	SCS Acs3 Acs Iii Chotzen Syndrome Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acrocephalosyndactyly Type 3 Acrocephalosyndactyly, Type Iii Acrocephalosyndactyly Type Iii Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies Auralcephalosyndactyly Acs 3 Acrocephalo-Syndactyly, Type 3 Blepharophimosis,Epicanthus Inversus, And Ptosis 3 Aural Cephalosyndactyly Kurczynski-Casperson Syndrome Acrocephalosyndactyly Iii Dysostosis Craniofacialis With Hypertelorism Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies Sakati Syndrome
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
Crouzon Syndrome	Crouzon Craniofacial Dysostosis Craniofacial Dysostosis Cfd1 Craniofacial Dysostosis Type 1 Crouzon Disease Crouzon'S Disease Craniofacial Dysostosis, Type I Craniofacial Dysarthrosis Craniofacial Dysostosis Syndrome CS Craniofacial Dysostosis Type I Vogt Cephalosyndactyly
Trachea Leiomyoma	Tracheal Neoplasms Leiomyoma Of The Trachea Tracheal Neoplasm Tracheal Leiomyoma
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
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
Joubert Syndrome 32	JBTS32
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller 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
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
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
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
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
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
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
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
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Meningioma, Familial	Meningioma Familial Meningioma Meningioma, Familial, Susceptibility To Meningeal Neoplasm Meningeal Neoplasms Meningiomas Meningioma, Nf2-Related, Somatic Meningioma, Sis-Related Meningothelial Cell Tumor Neoplasm Of The Meninges Primary Meningeal Tumor Familial Multiple Meningioma MNGMA Meningioma, Benign, No Icd-O Subtype Intracranial Meningioma Meningothelial Cell Neoplasm Supratentorial Meningioma Primary Neoplasm Of Spinal Meninges Benign Intracranial Meningioma Benign Meningioma Meningeal Tumours Meningeal Sarcoma Of Unspecified Site Meningothelial Sarcoma Of Unspecified Site
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]
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
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

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0508	Ornidazole	Inhibitor	99.49%	Unkown

Pre-clinical Phase

Bioactive Molecules (23)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100224	SANT-1		99.87%	Unkown
HY-100515	Robotnikinin	Inhibitor	98.98%	Unkown
HY-108439	Neurodazine	Activator	99.0%	Unkown
HY-158059	DS-1-38	Inhibitor	99.57%	Unkown
HY-P10875	HL2-m5	Inhibitor	98.06%	Unkown
HY-144881	(S)-HH2853	Inhibitor	/	Unkown
HY-123781A	RUSKI-201 dihydrochloride	Inhibitor	98.20%	Unkown
HY-145387	MRT-81	Antagonist	99.85%	Unkown
HY-116455	BRD-9526		/	Unkown
HY-147743	SMO-IN-1	Inhibitor	/	Unkown
HY-147744	AZD7254	Inhibitor	/	Unkown
HY-183335	SMO-IN-6		/	Unkown
HY-B0508S	Ornidazole-d5	Inhibitor	/	Unkown
HY-B0508S1	Ornidazole-13C2,15N2	Inhibitor	/	Unkown
HY-RS12865	SHH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-120664	BRD50837	Inhibitor	/	Unkown
HY-123781	RUSKI-201	Inhibitor	/	Unkown
HY-164500	MC3629	Inhibitor	/	Unkown
HY-N0836A	Jervine hydriodide		/	Unkown
HY-N18954	Heparin disaccharide III-S trisodium	Inhibitor	/	Unkown
HY-RS16599	Shh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23033	Shh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W338819	Clobetasol		/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992409	MEDI-5304	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SHH	VGNC	VGNC:77210
Rattus norvegicus	SHH	RGD	RGD:3673
Canis familiaris	SHH	VGNC	VGNC:46147
Bos taurus	SHH	VGNC	VGNC:34597
Mus musculus	SHH	MGD	MGI:98297
Others	SHH	NCBI