IHH - Indian hedgehog signaling molecule Gene

Also Known as BDA1; HHG2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3549

About IHH

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,054,424-219,060,921 (from NCBI)

This gene has 1 transcript (splice variant), 219 orthologues, 2 paralogues and is associated with 6 phenotypes. Biased expression in endometrium (RPKM 15.6), colon (RPKM 13.1) and 7 other tissues.

Summary

This gene encodes a member of the Hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]

IHH Products (1)

mRNA Protein Name
NM_002181.4 NP_002172.2 indian hedgehog protein preproprotein
Molecular Function GO Annotation Evidence References Source
enables calcium ion binding IDA
IDA: Inferred from direct assay
21537345 GOA
enables patched binding IDA
IDA: Inferred from direct assay
11472839 GOA
enables patched binding IPI
IPI: Inferred from physical interaction
21537345 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20519495 GOA
enables very-low-density lipoprotein particle binding IDA
IDA: Inferred from direct assay
20839884 GOA
Biological Process GO Annotation Evidence References Source
involved in cartilage development IMP
IMP: Inferred from mutant phenotype
17889828 GOA
involved in embryonic digit morphogenesis IMP
IMP: Inferred from mutant phenotype
17889828 GOA
involved in positive regulation of smoothened signaling pathway IDA
IDA: Inferred from direct assay
24342078 GOA
involved in skeletal system development IMP
IMP: Inferred from mutant phenotype
21537345 GOA
involved in smoothened signaling pathway IDA
IDA: Inferred from direct assay
21537345 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular region IDA
IDA: Inferred from direct assay
24342078 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
21537345 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

IHH Protein Structure

HH_signal

HH_signal: Hedgehog amino-terminal signalling domain (28 - 189)

Hint

Hint: Hint module (192 - 396)

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

indian hedgehog protein

  • Indian hedgehog homolog

IHH Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
IHH Q14623 BOC Homo sapiens Q9BWV1
ITC
20519495
Intra
IHH Q14623 BOC Homo sapiens Q9BWV1 20519495
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant IHH Proteins

Cat. No. Product Name Accession Purity
HY-P7204 IHH Protein, Human Q14623 (G29-G202) ≥ 95%, as determined by reducing SDS-PAGE.

IHH Antibodies

Cat. No. Product Name Application Reactivity
HY-P83266 Ihh Antibody (YA3011) WB, IHC-P Human, Mouse
HY-P83266A Ihh Antibody (YA3011)(PBS only) WB, IHC-P Human, Mouse

Related Diseases

Diseases Alias
Acrocapitofemoral Dysplasia
  • ACFD

  • Dysplasia, Acrocapitofemoral

Brachydactyly, Type A1
  • Brachydactyly Type A1

  • BDA1

  • Farabee-Type Brachydactyly

  • Farabee Type Brachydactyly

  • Brachydactyly Farabee Type

  • Brachydactyly, Farabee Type

  • Brachydactyly A1

  • Brachydactyly

Brachydactyly
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

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

Brachydactyly, Type A1, D
  • Brachydactyly Type A1d

  • BDA1D

  • Brachydactyly A1, D

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

Brachydactyly, Type A4
  • Brachymesophalangy Ii And V

  • Temtamy Type Brachydactyly

  • Brachydactyly Type A4

  • BDA4

  • Brachymesophalangy 2 And 5

  • Brachydactyly Temtamy Type

  • Brachydactyly, Temtamy Type

Metachondromatosis
  • METCDS

  • MC

Pancreas, Annular
  • Annular Pancreas

  • Pancreas Annulare

  • Congenital Annular Pancreas

Enchondromatosis, Multiple, Ollier Type
  • Ollier Disease

  • Enchondromatosis

  • Dyschondroplasia

  • Osteochondromatosis

  • Multiple Cartilaginous Enchondroses

  • Multiple Enchondromatosis

  • Enchondromatosis With Haemangiomata

  • Enchondromatosis, Multiple

  • Kast'S Syndrome

  • Ollier'S Syndrome

  • Enchondromatosis Multiple

  • ENCHOM

  • Maffucci Disease

  • Olliers Disease

  • Hereditary Multiple Exostoses

  • Chondromatosis

Exostosis
  • Osteophyte

  • Exostoses

  • Orbital Exostosis

  • Exostosis Of Orbit

  • Bone Spur

  • Bony Outgrowth

  • Swimmer'S Exostosis

  • Osteophytes

  • External Exotoses

  • Cartilaginous Exostosis

Sugarman Brachydactyly
  • Brachydactyly With Major Proximal Phalangeal Shortening

  • Brachydactyly Of The Hands And Feet With Duplication Of The First Toes

  • Sugarman-Hager-Kulik Syndrome

  • Orofaciodigital Syndrome 3

Hereditary Multiple Exostoses
  • Multiple Congenital Exostosis

  • Hereditary Multiple Exostoses 1

  • Hereditary Multiple Exostoses 2

  • Hereditary Multiple Exostoses 3

  • Multiple Exostosis Syndromes

  • Multiple Ostechondromas

  • Osteochondromatosis Syndrome

  • Exostoses Multiple Hereditary

  • Exostoses, Multiple Hereditary

Chronic Tympanitis
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

Hypochondroplasia
  • HCH

  • Hypochondrodysplasia

  • Chondrogenesis Imperfecta

  • Hypochondroplastic Dwarfism

  • Hypochondroplastic Short Stature

Bone Development Disease
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

Thanatophoric Dysplasia, Type I
  • Thanatophoric Dysplasia

  • Thanatophoric Dwarfism

  • Thanatophoric Dysplasia Type 1

  • TD1

  • Td

  • Thanatophoric Short Stature

  • Thanatophoric Dwarfism Type 1

  • Thanatophoric Dysplasia Type I

  • Platyspondylic Lethal Skeletal Dysplasia, San Diego Type

  • Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type

  • Skeletal Dysplasia, San Diego Type

  • Plsd San Diego Type

  • Thanatophoric Dwarfism 1

  • Dwarfism Thanatophoric

  • Dwarf, Thanatophoric

  • Thanatophoric Dysplasia 1

  • Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type

  • Platyspondylic Lethal Skeletal Dysplasia San Diego Type

  • Thanatophoric Dwarf

  • Thanatophoric Dwarfism Or Short Stature

  • Thanatophoric Dwarfism Syndrome

  • Td - [Thanatophoric Dwarfism]

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

Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
  • Catshl Syndrome

  • Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome

Multiple Enchondromatosis, Maffucci Type
  • Maffucci Syndrome

  • Chondrodysplasia With Hemangioma

  • Chondroplasia Angiomatosis

  • Enchondromatosis With Hemangiomata

  • Hemangiomatosis Chondrodystrophica

  • Kast Syndrome

  • Multiple Angiomas And Endochondromas

  • Dyschondrodysplasia With Hemangiomas

  • Enchondromatosis Type Ii

  • Enchondromatosis With Multiple Cavernous Hemangiomas

  • Dyschondroplasia And Cavernous Hemangioma

  • Hemangiomata With Dyschondroplasia

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

Culler-Jones Syndrome
  • Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome

  • CJS

  • Pallister-Hall Syndrome 2, Formerly

  • Phs2, Formerly

  • Pallister-Hall Syndrome 2

  • Phs2

Brachydactyly, Type A1, C
  • Brachydactyly Type A1c

  • BDA1C

  • Brachydactyly A1, C

  • Brachydactyly A1c

  • Brachydactyly Type A1 C

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
  • SADDAN

  • Saddan Dysplasia

  • Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans

  • Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome

  • Ssb Syndrome

  • Skeleton Skin Brain Syndrome

  • Skeleton-Skin-Brain Syndrome

  • Achondroplasia

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

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

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
  • Spondyloepiphyseal Dysplasia

  • Chst3-Related Skeletal Dysplasia

  • Humerospinal Dysostosis

  • Spondyloepiphyseal Dysplasia, Omani Type

  • Chondrodysplasia With Multiple Dislocations

  • SEDCJD

  • Hsd

  • Cdmd

  • Humero-Spinal Dysostosis

  • Kozlowski Celermajer Tink Syndrome

  • Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

  • Larsen Syndrome, Recessive Type

  • Humero-Spinal Dysostosis With Congenital Heart Disease

  • Omani Type

  • Sed

  • Chst3 Deficiency

  • Chst3-Related Dysplasia

  • Recessive Larsen Syndrome

  • Autosomal Recessive Larsen Syndrome

  • Sed With Luxations, Chst3 Type

  • Sed, Omani Type

  • Sdcd, Chst3 Type

  • Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

  • Sed Omani Type

  • Spondyloepiphyseal Dysplasia Omani Type

  • Larsen Syndrome, Autosomal Recessive

  • Mucopolysaccharidosis Iv

  • Spondyloepiphyseal Dysplasia, Congenita

Brachydactyly, Type B1
  • Brachydactyly Type B1

  • Brachydactyly Type B

  • BDB1

  • Brachydactyly, Type B

  • Bdb

  • Brachydactyly B1

Acromesomelic Dysplasia
  • Acromesomelic Dwarfism

  • Dysplasia, Acromesomelic

  • Acromesomelic Dysplasia Hunter-Thompson Type

Hyperinsulinemic Hypoglycemia, Familial, 2
  • Persistent Hyperinsulinemic Hypoglycemia Of Infancy

  • Phhi

  • Familial Hyperinsulinism

  • Congenital Hyperinsulinism

  • HHF2

  • Nesidioblastosis

  • Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia

  • Familial Hyperinsulinemic Hypoglycemia 2

  • Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency

  • Chi

  • Congenital Isolated Hyperinsulinism

  • Hyperinsulinemic Hypoglycemia, Persistent

  • Hyperinsulinism, Neonatal

  • Hyperinsulinism, Congenital

  • Hyperinsulinism, Familial

  • Hyperinsulinemic Hypoglycemia Familial

  • Hyperinsulinism Congenital

  • Hyperinsulinism Familial With Pancreatic Nesidioblastosis

  • Hypoglycemia Hyperinsulinemic Of Infancy

  • Nesidioblastosis Of Pancreas

  • Hyperinsulinemic Hypoglycemia Familial 2

  • Hyperinsulinemia Hypoglycemia Of Infancy

  • Infancy Hyperinsulinemia Hypoglycemia

  • Neonatal Hyperinsulinism

  • Persistent Hyperinsulinemia Hypoglycemia Of Infancy

  • Persistent Hyperinsulinemic Hypoglycemia

  • Phhi Hypoglycemia

  • Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency

  • Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency

  • Dominant Katp Hyperinsulinism Due To Kir6.2 Deficiency

  • Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency

  • Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency, Diazoxide-Resistant Focal Form

  • Fhi

  • Familial Hyperinsulinemic Hypoglycemia

  • Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency

  • Hypoglycemia, Hyperinsulinemic, Familial, Type 2

  • Hi-C

Cartilage Disease
  • Cartilage Diseases

  • Cartilage

  • Cartilage Disorder

  • Chondropathy

  • Cartilage Disorders

Spondyloepimetaphyseal Dysplasia, Strudwick Type
  • Spondylometaphyseal Dysplasia

  • Strudwick Syndrome

  • Dappled Metaphysis Syndrome

  • Semd, Strudwick Type

  • Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type

  • Smed, Strudwick Type

  • Smd

  • Smed Strudwick Type

  • SEMDSTWK

  • Smed, Type I

  • Semdc

  • Smed Type 1

  • Spondyloepimetaphyseal Dysplasia Strudwick Type

  • Sed Strudwick

  • Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

  • Smed Type I

  • Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses

  • Dysplasia, Spondyloepimetaphyseal, Strudwick Type

  • Dysplasia, Spondylometaphyseal

Osteochondrosis
  • Osteochondritis

  • Apophysitis

  • Epiphysitis

  • Osteochondritis Juvenilis

  • Epiphyseal Necrosis

  • Juvenile Osteochondrosis Of Tibial Tubercle

Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 3

  • Saldino-Noonan Syndrome

  • SRTD3

  • Atd3

  • Srps1

  • Srps3

  • Verma-Naumoff Syndrome

  • Srps2b

  • Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

  • Short Rib-Polydactyly Syndrome, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type I

  • Polydactyly With Neonatal Chondrodystrophy, Type Iii

  • Short Rib-Polydactyly Syndrome, Type Iib

  • Short Rib-Polydactyly Syndrome Type 3

  • Polydactyly With Neonatal Chondrodystrophy Type Iii

  • Short Rib-Polydactyly Syndrome Type Iii

  • Short Rib-Polydactyly Syndrome Type 1

  • Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

  • Majewski Syndrome

  • Short Rib-Polydactyly Syndrome, Type Iii

  • Type I Short Rib Polydactyly Syndrome

  • Srps Type 3

  • Short Rib Polydactyly Syndrome Verma Naumoff Type

  • Verma Naumoff Syndrome

  • Polydactyly With Neonatal Chondrodystrophy Type 1

  • Srps Type 1

  • Short Rib-Polydactyly Syndrome Saldino-Noonan Type

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Jeune Syndrome 3

  • Polydactyly With Neonatal Chondrodystrophy Type I

  • Short Rib-Polydactyly Syndrome Type I

  • Short Rib-Polydactyly Syndrome Type Iib

  • Srps Type Iib

  • Srps Type Iii

Brachydactyly, Type A2
  • Brachydactyly Type A2

  • BDA2

  • Mohr-Wriedt Type Brachydactyly

  • Brachymesophalangy Ii

  • Brachymesophalangy Type 2

  • Brachymesophalangy 2

  • Brachydactyly, Mohr-Wriedt Type

  • Brachydactyly A2

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

Ellis-Van Creveld Syndrome
  • Chondroectodermal Dysplasia

  • Mesoectodermal Dysplasia

  • EVC

  • Ellis Van Creveld Syndrome

  • Mesodermic Dysplasia

  • Ellis-Van Creveld Dysplasia

Leri-Weill Dyschondrosteosis
  • LWD

  • Dyschondrosteosis

  • Dco

  • Léri-Weill Dyschondrosteosis

  • Leri Weill Dyschondrosteosis

  • Leri-Weill Syndrome

  • Leri-Weil Syndrome

  • Dyschondrosteosis, Leri-Weill

Dysostosis
  • Dysostoses

Campomelic Dysplasia
  • Acampomelic Campomelic Dysplasia

  • Camptomelic Dysplasia

  • Campomelic Dysplasia With Autosomal Sex Reversal

  • Cmpd

  • CMD1

  • Cmpd1

  • Cmpd1/Sra1

  • Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal

  • Campomelic Dwarfism

  • Campomelic Syndrome

  • Dysplasia, Campomelic

  • Chronic Myeloproliferative Disorder

  • Familial Dilated Cardiomyopathy

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

Synostosis
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

Infratentorial Cancer
  • Infratentorial Neoplasms

  • Brain Neoplasm, Infratentorial

  • Malignant Infratentorial Tumors

Joubert Syndrome 32
  • JBTS32

Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis
  • ECTD14

  • Ectodermal Dysplasia 14

  • Ectn14

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Giant Axonal Neuropathy 1, Autosomal Recessive
  • Giant Axonal Neuropathy

  • Giant Axonal Neuropathy 1

  • Gan

  • GAN1

  • Giant Axonal Neuropathy-1

  • Neuropathy, Giant Axonal

  • Giant Axonal Disease

  • Neuropathy, Axonal, Giant, Type 1

Cleft Palate, Isolated
  • Cleft Palate

  • Isolated Cleft Palate

  • CPI

  • Cp

  • Palatoschisis

  • Cleft Palate Isolated

  • Uranostaphyloschisis

  • Congenital Fissure Of Palate

  • Cleft Of Secondary Palate

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

Holoprosencephaly
  • Holoprosencephaly Sequence

  • Hpe

  • Hpe - [Holoprosencephaly]

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

Kallmann Syndrome
  • Hypogonadism With Anosmia

  • Kallman'S Syndrome

  • Anosmic Hypogonadism

  • Anosmic Idiopathic Hypogonadotropic Hypogonadism

  • Hypogonadotropic Hypogonadism And Anosmia

  • Hypogonadotropic Hypogonadism-Anosmia Syndrome

  • Olfacto-Genital Pathological Sequence

  • Familial Hypogonadism With Anosmia

  • Kallman Syndrome

  • Dysplasia Olfactogenitalis Of De Morsier

  • Kallmann'S Syndrome

  • Congenital Hypogonadotropic Hypogonadism With Anosmia

Orofacial Cleft
  • Cleft, Orofacial

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

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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus IHH RGD RGD:620021
Felis catus IHH VGNC VGNC:67749
Bos taurus IHH VGNC VGNC:30099
Mus musculus IHH MGD MGI:96533
Macaca mulatta IHH VGNC VGNC:73702
Others IHH NCBI