ERCC6 - ERCC excision repair 6, chromatin remodeling factor Gene

Also Known as CSB; CKN2; COFS; ARMD5; COFS1; POF11; RAD26; UVSS1; CSB-PGBD3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2074

About ERCC6

Cytogenetic location: 10q11.23 Genomic coordinates (GRCh38): 10:49,434,881-49,539,538 (from NCBI)

This gene has 21 transcripts (splice variants), 194 orthologues, 30 paralogues and is associated with 15 phenotypes. Ubiquitous expression in thyroid (RPKM 2.7), skin (RPKM 2.1) and 25 other tissues.

Summary

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]

ERCC6 Products (4)

mRNA	Protein	Name
NM_000124.4	NP_000115.1	DNA excision repair protein ERCC-6 isoform 2
NM_001277058.2	NP_001263987.1	ERCC6-PGBD3 fusion protein isoform 1
NM_001277059.2	NP_001263988.1	ERCC6-PGBD3 fusion protein isoform 1
NM_001346440.2	NP_001333369.1	DNA excision repair protein ERCC-6 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables ATP binding	IDA IDA: Inferred from direct assay	12560492	GOA
enables ATP-dependent activity, acting on DNA	IDA IDA: Inferred from direct assay	8999876	GOA
enables ATP-dependent activity, acting on DNA	IMP IMP: Inferred from mutant phenotype	25820262	GOA
enables ATP-dependent chromatin remodeler activity	IMP IMP: Inferred from mutant phenotype	29203878	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	8999876	GOA
NOT enables DNA helicase activity	IDA IDA: Inferred from direct assay	8999876	GOA
enables RNA polymerase binding	IDA IDA: Inferred from direct assay	26218421	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	26620705	GOA
enables chromatin binding	IMP IMP: Inferred from mutant phenotype	25820262	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7663514	GOA
enables protein tyrosine kinase activator activity	IDA IDA: Inferred from direct assay	17626041	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	22483866	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	25820262	GOA
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	26218421	GOA
involved in base-excision repair	IMP IMP: Inferred from mutant phenotype	9973627	GOA
involved in double-strand break repair via classical nonhomologous end joining	IDA IDA: Inferred from direct assay	29545921	GOA
involved in negative regulation of double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	25820262	GOA
involved in neurogenesis	IMP IMP: Inferred from mutant phenotype	24874740	GOA
involved in neuron differentiation	IMP IMP: Inferred from mutant phenotype	24874740	GOA
involved in neuron projection development	IMP IMP: Inferred from mutant phenotype	24874740	GOA
involved in positive regulation of DNA repair	IGI IGI: Inferred from genetic interaction	22483866	GOA
involved in positive regulation of DNA repair	IMP IMP: Inferred from mutant phenotype	22483866	GOA
involved in positive regulation of DNA-templated transcription, elongation	IDA IDA: Inferred from direct assay	9326587	GOA
involved in positive regulation of defense response to virus by host	IMP IMP: Inferred from mutant phenotype	22483866	GOA
involved in positive regulation of double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	25820262	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22483866	GOA
involved in positive regulation of peptidyl-serine phosphorylation of STAT protein	IMP IMP: Inferred from mutant phenotype	22483866	GOA
involved in positive regulation of transcription by RNA polymerase III	IDA IDA: Inferred from direct assay	16603771	GOA
involved in regulation of DNA-templated transcription elongation	IDA IDA: Inferred from direct assay	9326587	GOA
involved in response to oxidative stress	IDA IDA: Inferred from direct assay	16107709	GOA
acts upstream of or within response to oxidative stress	IGI IGI: Inferred from genetic interaction	17626041	GOA
involved in single strand break repair	IDA IDA: Inferred from direct assay	29545921	GOA
involved in transcription-coupled nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	10564257	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of B-WICH complex	IDA IDA: Inferred from direct assay	16603771	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	16107709	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	16107709	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12560492	GOA
located in site of DNA damage	IDA IDA: Inferred from direct assay	28292928	GOA
part of transcription elongation factor complex	IDA IDA: Inferred from direct assay	9326587	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

ERCC6 Protein Structure

SNF2_N

Helicase_C

0
300
600
900
1200
1493 a.a.

Protein Preferred Names	Protein Names
DNA excision repair protein ERCC-6 ERCC6-PGBD3 fusion protein	ATP-dependent helicase ERCC6

Protein Preferred Names

Protein Names

DNA excision repair protein ERCC-6

ERCC6-PGBD3 fusion protein

ATP-dependent helicase ERCC6

ERCC6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	ERCC6	Q03468	ABL1	Homo sapiens	P00519	Pull Down	17626041
Intra	ERCC6	Q03468	ERCC8	Homo sapiens	Q13216-1	Y2H	7664335

Cross: Cross-species interaction Intra: Intraspecies interaction

ERCC6 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P89568	CSB Antibody (YA8912)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
Cockayne Syndrome B	Cockayne Syndrome Type 2 Cockayne Syndrome, Type B Cockayne Syndrome Type Ii CSB Cockayne Syndrome 2 Cockayne Syndrome Type B Ckn2 Cockayne Syndrome, Type Ii
Cerebrooculofacioskeletal Syndrome 1	Cofs Syndrome COFS1 Pena-Shokeir Syndrome Type 2 Cofs Pena-Shokeir Syndrome, Type Ii Cerebrooculofacioskeletal Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome 1 Pena Shokeir Syndrome Type 2
Premature Ovarian Failure 11	POF11 Ovarian Failure, Premature, Type 11
De Sanctis-Cacchione Syndrome	Xerodermic Idiocy Xeroderma Pigmentosum With Neurologic Manifestation DSC Xerodermic Idiocy Of De Sanctis And Cacchione
Macular Degeneration, Age-Related, 5	ARMD5 Age Related Macular Degeneration 5 Macular Degeneration, Age-Related, Susceptibility To, 5 Macular Degeneration, Age-Related 5 Macular Degeneration, Age-Related, Type 5
Uv-Sensitive Syndrome 1	UVSS1
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Cockayne Syndrome Type Iii	Cockayne Syndrome Type 3 Cockayne Syndrome Type C Cockayne Syndrome, Type Iii
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
Genetic Non-Acquired Premature Ovarian Failure
Cockayne Syndrome A	Cockayne Syndrome Type 1 Cockayne Syndrome, Type A Cockayne Syndrome Type I CSA Cockayne Syndrome Classic Form Cockayne Syndrome Classical Cockayne Syndrome Type A Ckn1
Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome Cofs Syndrome Pena-Shokeir Syndrome Type 2 Pena Shokeir Syndrome Type 2
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Physical Disorder	Physical Illness
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Orbital Disease	Orbit Orbital Diseases
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Pseudopapilledema
Lens Disease	Lens Diseases
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Xeroderma Pigmentosum, Complementation Group F	Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum Vi Xp6 Xeroderma Pigmentosum, Type F/Cockayne Syndrome XPF Xp, Group F Xeroderma Pigmentosum Group F Xp Group F Xeroderma Pigmentosum, Type 6 Xeroderma Pigmentosum Complementation Group F XP-F Xeroderma Pigmentosum Type F/Cockayne Syndrome XPF/CS
Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome XFEPS
Suppurative Otitis Media	Otitis Media With Effusion - Purulent Purulent Otitis Media Otitis Media, Suppurative
Fanconi Anemia, Complementation Group Q	Fanconi Anemia Complementation Group Q FANCQ
Fanconi Anemia, Complementation Group R	Fanconi Anemia Complementation Group R FANCR
Visual Pathway Disease	Disorder Of Visual Pathways
Sensory System Disease
Specific Developmental Disorder
Eye Degenerative Disease
Cardiomyopathy, Dilated, 1l	Dilated Cardiomyopathy 1l CMD1L Cardiomyopathy, Dilated 1l Cardiomyopathy, Dilated, Type 1l
Anterior Segment Dysgenesis 3	Iridogoniodysgenesis, Type 1 Irid1 Iridogoniodysgenesis Anomaly, Autosomal Dominant Igda ASGD3 Iris Hypoplasia With Glaucoma Glaucoma Iridogoniodysplasia, Familial Anterior Segment Dysgenesis 3, Multiple Subtypes Iridogoniodysgenesis Type 1 Glaucoma Iridogoniodysgenesia Igda Syndrome Iridogoniodysgenesis Anomaly
Linear Skin Defects With Multiple Congenital Anomalies 1	Midas Syndrome Mcops7 Mls Syndrome Microphthalmia, Syndromic 7 Microphthalmia With Linear Skin Defects Syndrome Microphthalmia With Linear Skin Defects Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome Syndromic Microphthalmia Type 7 LSDMCA1 Mls Microphthalmia, Dermal Aplasia, And Sclerocornea Microphthalmia With Linear Skin Defect Syndrome Syndromic Microphthalmia 7 Linear Skin Defects With Multiple Congenital Anomalies Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome Microphthalmia Dermal Aplasia And Sclerocornea Syndrome Micropthalmia Syndromic 7 Microphthalmia Syndromic 7 Microphthalmia With Linear Skin Lesions Syndrome Syndromic Microphthalmia-7 Microphthalmia, Dermal Aplasia And Sclerocornea Microphthalmia, Syndromic, 7 Midas
Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Chromosome 16p12.2-P11.2 Deletion Syndrome 16p11.2p12.2 Microdeletion Syndrome 16p11.2-P12.2 Microdeletion Syndrome Del(16)(P11.2p12.2) Monosomy 16p11.2p12.2 Chromosome Deletion Syndrome 16p12.2-P11.2
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	Spinal Muscular Atrophy, Jerash Type DSMA2 Neuropathy, Distal Hereditary Motor, Jerash Type Hmnj Autosomal Recessive Distal Spinal Muscular Atrophy 2 Neuronopathy, Distal Hereditary Motor, Jerash Type Distal Spinal Muscular Atrophy 2 Dhmnj Hereditary Motor Neuropathy, Jerash Type Motor Neuropathy, Distal, Jerash Type Distal Hereditary Motor Neuropathy, Jerash Type Distal Hereditary Motor Neuropathy Jerash Type Spinal Muscular Atrophy Jerash Type Mndj Autosomal Recessive Distal Spinal Muscular Atrophy Type 2 Distal Spinal Muscular Atrophy, Autosomal Recessive, 2 Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2
Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum Group A Xp1 Xeroderma Pigmentosum, Group A XPA Xeroderma Pigmentosum I Xeroderma Pigmentosum Complementation Group A Xp Group A Xp, Group A Xeroderma Pigmentosum 1 Xeroderma Pigmentosum, Type 1 XP-A
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Chromosome 10q26 Deletion Syndrome	Distal 10q Deletion Syndrome Terminal Chromosome 10q26 Deletion Syndrome Distal Monosomy 10q Monosomy 10qter Telomeric Deletion 10q Distal Deletion 10q 10q26 Deletion Syndrome 10qter Deletion Telomeric Deletion 10
Fanconi Anemia, Complementation Group U	Fanconi Anemia Complementation Group U FANCU
Mullegama-Klein-Martinez Syndrome	MKMS Nedxcf Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Lissencephaly 6	Lis6
Fanconi Anemia, Complementation Group T	Fanconi Anemia Complementation Group T FANCT
Xeroderma Pigmentosum, Complementation Group B	Xeroderma Pigmentosum Group B Xeroderma Pigmentosum, Group B XPB Xpbc Xp Group B Xp, Group B Xeroderma Pigmentosum Complementation Group B XP-B Xeroderma Pigmentosum Group B With Cockayne Syndrome Xeroderma Pigmentosum Ii Xp2 Xp-B/Cs
Skin Creases, Congenital Symmetric Circumferential, 1	Michelin Tire Baby Syndrome CSCSC1 Skin Creases, Multiple Benign Ring-Shaped, Of Limbs Circumferential Skin Creases, Kunze Type Congenital Symmetric Circumferential Skin Creases 1 Circumferential Skin Creases Kunze Type Symmetric Circumferential Skin Creases, Congenital, 1 Csc-Kt Multiple Benign Ring-Shaped Skin Creases Of Limbs Michelin-Tire Baby
Skin Creases, Congenital Symmetric Circumferential, 2	CSCSC2 Symmetric Circumferential Skin Creases, Congenital, 2 Congenital Symmetric Circumferential Skin Creases 2
Enophthalmos
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome	Atr-X Syndrome Atr, Nondeletion Type Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Atrx Syndrome Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome Xlmr Hypotonic Face Syndrome Alpha Thalassemia X-Linked Intellectual Disability Syndrome Alpha Thalassemia X-Linked Mental Retardation Syndrome Alpha Thalassemia/Mental Retardation, X-Linked Alpha-Thalassemia X-Linked Mental Retardation Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type X-Linked Alpha-Thalassemia/Mental Retardation Syndrome Xlmr-Hypotonic Face Syndrome Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
Integumentary System Disease
Immunodeficiency 30	Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency IMD30 Il12rb1 Deficiency Mendelian Susceptibility To Interleukin 12 Receptor Beta 1 Deficiency Msmd Due To Complete Il12rb1 Deficiency Msmd Due To Complete Interleukin 12 Receptor Beta 1 Deficiency Il-12râ1 Deficiency Mendelian Susceptibility To Mycobacterial Infections Due To Il12 Deficiency Immunodeficiency, Type 30
Xeroderma Pigmentosum, Complementation Group C	Xeroderma Pigmentosum, Group C XPC Xpcc Xeroderma Pigmentosum Iii Xp3 Xeroderma Pigmentosum Group C Xp Group C Xp, Group C Xeroderma Pigmentosum, Type 3 Xeroderma Pigmentosum Complementation Group C XP-C
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Ehlers-Danlos Syndrome, Musculocontractural Type 1 EDSMC1 Edsmc Adducted Thumb-Clubfoot Syndrome Atcs Dundar Syndrome Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis Ehlers-Danlos Syndrome Musculocontractural Type 1 Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome Ehlers-Danlos Syndrome, Type Vib, Formerly Eds6b, Formerly Adducted Thumbs-Arthrogryposis Dundar Type Arthrogryposis Distal With Peculiar Facies And Hydronephrosis Eds6b Formerly Ehlers-Danlos Syndrome Type Vib Formerly Ehlers-Danlos, Musculocontractural Syndrome, Type 1
Cerebellar Ataxia Type 47	Sca47
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Malouf Syndrome Najjar Syndrome Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome Cardiogenital Syndrome Genital Anomaly With Cardiomyopathy Cardiomyopathy With Primary Testicular Failure Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism Cardiomyopathy, Dilated, With Premature Ovarian Failure Cardiomyopathy Eith Primary Testicular Failure Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism Dilated Cardiomyopathy With Premature Ovarian Failure CMDHH Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism Cardiomyopathy Dilated With Premature Ovarian Failure
Amyloidosis, Primary Localized Cutaneous, 3	Amyloidosis Cutis Dyschromica PLCA3 Acd Primary Localized Cutaneous Amyloidosis 3 Amyloidosis Cutis Dyschromia
Immunodeficiency With Hyper-Igm, Type 4	HIGM4 Hyper-Igm Syndrome Type 4 Immunodeficiency With Hyper-Igm Type 4 Hyper-Igm Syndrome 4 Immunodeficiency With Hyper Igm Type 4 Hyper Igm Syndrome 4 Immunodeficiency, With Hyper Igm, Type 4
Immunodeficiency With Hyper-Igm, Type 5	HIGM5 Hyper-Igm Syndrome 5 Immunodeficiency With Hyper Igm Type 5 Hyper-Igm Syndrome Type 5 Hyper-Igm Syndrome Due To Ung Deficiency Hyper-Igm Syndrome Due To Uracil N-Glycosylase Immunodeficiency With Hyper Igm, Type 5 Hyper Igm Syndrome 5 Immunodeficiency With Hyper-Igm 5 Hyper-Igm Immunodeficiency Type 5 Immunodeficiency, With Hyper Igm, Type 5 Hyper-Igm Immunodeficiency Syndrome, Type 5
Myasthenic Syndrome, Congenital, 6, Presynaptic	Familial Infantile Myasthenia CMS6 Cmsea Congenital Myasthenic Syndrome 6 Familial Infantile Myasthenia Gravis 2 Fimg2 Myasthenic Syndrome, Congenital, Associated With Episodic Apnea Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea Congenital Myasthenic Syndrome Type Ia2, Formerly Cms1a2, Formerly Cms Ia2, Formerly Myasthenia, Familial Infantile, Formerly Fim, Formerly Myasthenia Gravis, Familial Infantile, 2, Formerly Fimg2, Formerly Cms Ia2 Cms1a2 Congenital Myasthenic Syndrome 6, Presynaptic Congenital Myasthenic Syndrome Type Ia2 Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea Fim Cms1a Cms-Ea Cms Ia Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea Congenital Myasthenic Syndrome Type 1a Congenital Myasthenic Syndrome Type Ia Myasthenic Syndrome, Congenital, Type 6, Presynaptic
Trichothiodystrophy 3, Photosensitive	TTD3 Trichothiodystrophy, Complementation Group A Ttda Photosensitive Trichothiodystrophy 3 Trichothiodystrophy Complementation Group A
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
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Rothmund-Thomson Syndrome, Type 2	Rothmund-Thomson Syndrome Rts RTS2 Poikiloderma Of Rothmund-Thomson Rothmund-Thomson Syndrome Type 2 Congenital Poikiloderma Poikiloderma Congenitale Poikiloderma Atrophicans And Cataract Poikiloderma Congenitale Of Rothmund-Thomson Poikiloderma Of Rothmund-Thomson Type 2 Rothmund-Thomson Syndrome 2 Erythrokeratodermia Variabilis
Mismatch Repair Cancer Syndrome	Turcot Syndrome Brain Tumor-Polyposis Syndrome 1 Btp1 Syndrome Btps1 Childhood Cancer Syndrome Cmmr-D Syndrome Cmmrds Constitutional Mismatch Repair Deficiency Syndrome Mmr Deficiency Cancer Syndrome, Mismatch Repair Malignant Childhood Neoplasm
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Xeroderma Pigmentosum Group E	Xeroderma Pigmentosum, Group E Xeroderma Pigmentosum V Xp Group E Xp5 Xpe Xeroderma Pigmentosum, Complementation Group E
Autosomal Recessive Cerebellar Ataxia	Arca
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Guam Disease Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam Als-Pdc Lytico-Bodig Disease Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome Parkinsonism-Dementia-Als Complex Pdals Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam Parkinson-Dementia Complex Of Guam G-Pdc Guam Parkinsonism-Dementia Complex ALS-PDC1 Als/Pdc Of Guam Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1 Amyotrophic Lateral Sclerosis, Guam Form Parkinsonian Disorders
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Photoparoxysmal Response 1	Photosensitivity Disease Photodermatitis Photosensitivity Disorders PPR1 Ppr Photosensitivity Photoconvulsive Reaction Epilepsy, Photogenic Photosensitivity Of Skin Dermatitis, Phototoxic
Skin Atrophy	Atrophic Condition Of Skin Atrophoderma Atrophy - Skin
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Lig4 Syndrome	Dna Ligase Iv Deficiency Ligase 4 Syndrome LIG4S
Myasthenic Syndrome, Congenital, 10	Congenital Myasthenic Syndrome 10 CMS10 Lgm Myasthenia, Limb-Girdle, Familial Myasthenia, Limb-Girdle, Familial, Formerly Lgm, Formerly Congenital Myasthenic Syndrome Type Ib, Formerly Cms1b, Formerly Cms Ib, Formerly Myasthenic Myopathy, Formerly Familial Limb-Girdle Myasthenia Cms1b Cms Ib Congenital Myasthenic Syndrome Type 1b Congenital Myasthenic Syndrome Type Ib Myasthenic Myopathy Myasthenic Syndrome, Congenital, Type 10 Congenital Myasthenic Syndrome Ib Myopathy In Myasthenia Gravis
Birt-Hogg-Dube Syndrome	Hornstein-Knickenberg Syndrome Fibrofolliculomas With Trichodiscomas And Acrochordons BHD Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculoma Familial Bhd Syndrome Birt Hogg Dube Syndrome Hornstein-Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculomas
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic Lateral Sclerosis Type 4 ALS4 Amyotrophic Lateral Sclerosis 4 Dhmn With Upper Motor Neuron Signs Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs Neuronopathy, Distal Hereditary Motor, With Pyramidal Features Als 4 Distal Hereditary Motor Neuropathy With Pyramidal Features Amyotrophic Lateral Sclerosis Juvenile 4 Neuronopathy Distal Hereditary Motor With Pyramidal Features Sclerosis, Lateral, Amyotrophic, Type Type 4
Premature Ovarian Failure 19	POF19 Primary Ovarian Insufficiency 19 Poi19 Ovarian Failure, Premature, Type 19
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Cutis Laxa, Autosomal Recessive, Type Iiia	ARCL3A De Barsy Syndrome A Aldh18a1-Related De Barsy Syndrome Progeroid Syndrome Of De Barsy Autosomal Recessive Cutis Laxa Type Iiia P5cs Deficiency De Barsy Syndrome Cutis Laxa, Corneal Clouding, And Mental Retardation Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency Neurocutaneous Syndrome, Bicknell Type Cutis Laxa Corneal Clouding Mental Retardation Progeroid Syndrome De Barsy Type Cutis Laxa, Autosomal Recessive, 3a Cutis Laxa Autosomal Recessive Type Iiia Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin Neurocutaneous Syndrome Bicknell Type Corneal Clouding Cutis Laxa Mental Retardation
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Ocular Albinism With Sensorineural Deafness OASD Deafness And Ocular Albinism Ocular Albinism With Late-Onset Sensorineural Deafness Albinism, Ocular, With Sensorineural Deafness Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism Digenic Waardenburg Syndrome/Albinism Digenic Waardenburg Syndrome/Ocular Albinism Ws2-Oa Albinism Ocular Late Onset Sensorineural Deafness Ocular Albinism With Late-Onset Sensorineural Hearing Loss Waardenburg Syndrome/Ocular Albinism, Digenic Waardenburg Syndrome/Albinism, Digenic Ocular Albinism And Sensorineural Deafness
Amenorrhea	Absence Of Menstruation Amenia
Thrombocytopenia-Absent Radius Syndrome	Tar Syndrome Radial Aplasia-Thrombocytopenia Syndrome Absent Radii And Thrombocytopenia TAR Chromosome 1q21.1 Deletion Syndrome, 200-Kb Thrombocytopenia Absent Radius Syndrome Thrombocytopenia Absent Radii Chromosome 1q21.1 Deletion Syndrome Thrombocytopenia With Absent Radii Syndrome Radial Aplasia-Amegakaryocytic Thrombocytopenia
Teeth Hard Tissue Disease
Baller-Gerold Syndrome	BGS Craniosynostosis With Radial Defects Craniosynostosis-Radial Aplasia Syndrome Craniosynostosis Radial Aplasia Syndrome
Ehlers-Danlos Syndrome, Hypermobility Type	Ehlers-Danlos Syndrome, Type 3 Ehlers-Danlos Syndrome, Type Iii EDSHMB Eds Iii Benign Hypermobility Syndrome Ehlers-Danlos Syndrome Hypermobility Type Eds3 Type Iii Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type 3 Es-D3
Disease Of Mental Health	Mental Health Mental Disorders
Sorsby Fundus Dystrophy	SFD Fundus Dystrophy, Pseudoinflammatory, Of Sorsby Sorsby'S Fundus Dystrophy Macular Dystrophy, Hemorrhagic Hemorrhagic Macular Dystrophy Pseudoinflammatory Fundus Dystrophy Of Sorsby Sorsby'S Pseudoinflammatory Macular Dystrophy Sorsby Pseudoinflammatory Fundus Dystrophy Dystrophy, Fundus, Sorsby
Rapadilino Syndrome	Absent Thumbs, Dislocated Joints, Long Face With Narrow Palpebral Fissures, Long Slender Nose, Arched Palate Radial And Patellar Aplasia Radial And Patellar Hypoplasia RAPADILINOS
Ovarian Disease	Ovarian Dysfunction Ovarian Diseases Ovarian Disorders Disorder Of Endocrine Ovary
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
Leukodystrophy, Hypomyelinating, 9	Hypomyelinating Leukodystrophy 9 HLD9 Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy Leukodystrophy, Hypomyelinating, Type 9
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Telangiectasis	Telangiectasia
Multiple Benign Circumferential Skin Creases On Limbs	Ccsf Circumferential Skin Creases, Kunze Type Congenital Circumferential Skin Folds Kunze-Riehm Syndrome Kunze Riehm Syndrome Michelin Tire Baby Syndrome
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
Cystic Lymphangioma	Cystic Hygroma Cavernous Lymphangioma Macrocystic Lymphatic Malformation Cavernous Lymphatic Malformation Macrocystic Lymphangioma Lymphangioma, Cystic
Abcd Syndrome	ABCDS Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut And Deafness
Acrofacial Dysostosis 1, Nager Type	Nager Syndrome Nager Acrofacial Dysostosis AFD1 Preaxial Acrofacial Dysostosis Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies Afd, Nager Type Nager Acrofacial Dysostosis Syndrome Nafd Acrofacial Dysostosis, Nager Type Afd Preaxial Manibulofacial Dysostosis Split Hand Deformity-Mandibulofacial Dysostosis Preaxial Mandibulofacial Dysostosis Mandibulofacial Dysostosis With Preaxial Limb Anomalies Preaxial Acrodysostosis Afd Nager Type Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
Refractive Error	Refractive Errors
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Premature Ovarian Failure 1	Ovarian Failure, Premature Fmr1-Related Primary Ovarian Insufficiency Fragile X-Associated Primary Ovarian Insufficiency POF1 Pofx Hypergonadotropic Ovarian Failure, X-Linked Pof Primary Ovarian Insufficiency, Fragile X-Associated Primary Ovarian Insufficiency 1 Ovarian Failure Premature Premature Ovarian Failure, X-Linked Fragile X Premature Ovarian Failure Fmr1-Related Premature Ovarian Failure Familial Premature Ovarian Failure Idiopathic Familial Premature Ovarian Failure Fxpoi X-Linked Hypergonadotropic Ovarian Failure Hypergonadotropic Ovarian Failure X-Linked Poi Premature Ovarian Failure X-Linked Primary Ovarian Insufficiency Premature Ovarian Failure-1 Ovarian Failure, Premature, Type 1 Premature Ovarian Failure, Familial Premature Menopause Primary Hypogonadism Turner Syndrome
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
Retinal Drusen
Hutchinson-Gilford Progeria Syndrome	Progeria HGPS Hutchinson-Gilford Syndrome Hutchinson-Gilford Progeria Hutchinson Gilford Syndrome Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Disease Progeria Of Childhood Hutchinson-Gilford-Progeria Syndrome
Bart-Pumphrey Syndrome	Knuckle Pads, Leukonychia, And Sensorineural Deafness BAPS Knuckle Pads, Leuconychia And Sensorineural Deafness Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome Knuckle Pads, Deafness And Leukonychia Syndrome Knuckle Pads, Deafness, And Leukonychia Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
Riddle Syndrome	RIDL Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome Rnf168 Deficiency Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Corneal Dystrophy, Avellino Type	Avellino Corneal Dystrophy CDA Combined Granular-Lattice Corneal Dystrophy Cgd2 Granular Corneal Dystrophy Type 2 Acd Granular Corneal Dystrophy 2 Corneal Dystrophy Avellino Type Granular Corneal Dystrophy Type Ii Granular Corneal Dystrophy, Type Ii Combined Granular-Lattice Corneal Dystrophies Granular And Lattice Corneal Dystrophies Granular-Lattice Corneal Dystrophy Gcd2 Gcdii Granular-Lattice Corneal Dystrophy
Roberts-Sc Phocomelia Syndrome	Roberts Syndrome Sc Phocomelia Syndrome RBS Long Bone Deficiencies Associated With Cleft Lip-Palate Sc Pseudothalidomide Syndrome Appelt-Gerken-Lenz Syndrome Pseudothalidomide Syndrome Tetraphocomelia-Cleft Palate Syndrome Hypomelia Hypotrichosis Facial Hemangioma Syndrome Roberts Syndrome/Sc Phocomelia Roberts Tetraphocomelia Syndrome Sc Syndrome Sc Phocomelia Sc Disease Sc Hemoglobin Sc Disease
Basal Ganglia Calcification	Fahr'S Syndrome Fahr'S Disease Fahr Disease
Basal Ganglia Disease	Basal Ganglia Diseases Basal Ganglia Disorders Abnormality Of The Basal Ganglia
Aicardi-Goutieres Syndrome	Aicardi Goutieres Syndrome Cree Encephalitis Aicardi-Goutières Syndrome Encephalopathy With Basal Ganglia Calcification Ags Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid Pseudotoxoplasmosis Syndrome Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis Aicardi-Goutieres Syndrome 1
Variegate Porphyria	Porphyria Variegata Protoporphyrinogen Oxidase Deficiency VP Ppox Deficiency Porphyria, South African Type Porphyria Variegata, Susceptibility To Protocoproporphyria Porphyria Variegate Porphyria South African Type Pv Porphyria, Variegate Vp - [Variegate Porphyria]
Paranoid Schizophrenia	Chronic Paranoid Schizophrenia Paranoid Type Schizophrenia Paranoid Type Schizophrenia Subchronic State Paraphrenia - Late Paraphrenic Schizophrenia Schizophrenia, Paranoid
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Lesch-Nyhan Syndrome	Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency LNS Hprt Deficiency Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency X-Linked Hyperuricemia Choreoathetosis Self-Mutilation Syndrome Hprt1 Deficiency Hprt Deficiency, Complete Deficiency Of Imp Pyrophosphorylase Hgprt Deficiency Lesch-Nyhan Disease Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency Hg-Prt Deficiency Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency Lesch - Nyhan Syndrome Hprt1 Disorders Lesch Nyhan Syndrome Complete Hprt Deficiency Complete Lesch Nyhan Disease Complete Hprt Deficiency Deficiency Of Guanine Phosphoribosyltransferase Deficiency Of Hypoxanthine Phosphoribosyltransferase Hypoxanthine Phosphoribosyltransferase Deficiency Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome Juvenile Hyperuricemia Syndrome Lnd Primary Hyperuricemia Syndrome Total Hprt Deficiency Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency X-Linked Primary Hyperuricemia X-Linked Uric Aciduria Enzyme Defect Hprt Complete Deficiency Hprt Deficiency Grade Iv Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency
Megalocornea	Isolated Congenital Megalocornea Congenital Anterior Megalophthalmia Anterior Megalophthalmos Mgc1 Mgcn Congenital Keratoglobus
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Burn-Mckeown Syndrome	Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome Oculootofacial Dysplasia BMKS Oofd Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome Choanal Atresia Deafness Cardiac Defects Dysmorphism Oculo-Oto-Facial Dysplasia
Cerebrooculofacioskeletal Syndrome 2	COFS2 Cerebro-Oculo-Facio-Skeletal Syndrome 2 Cofs Syndrome
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Purine-Pyrimidine Metabolic Disorder	Inborn Errors Of Purine-Pyrimidine Metabolism Disorder Of Purine Or Pyrimidine Metabolism
Amyotrophic Lateral Sclerosis 2, Juvenile	ALS2 Als, Juvenile Alsj Amyotrophic Lateral Sclerosis Type 2 Amyotrophic Lateral Sclerosis 2 Amyotrophic Lateral Sclerosis Type 2, Juvenile Amyotrophic Lateral Sclerosis Juvenile Amyotrophic Lateral Sclerosis Juvenile 2 Sclerosis, Lateral, Amyotrophic, Type Type 2
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome
Phacogenic Glaucoma
Central Nervous System Disease	Cns Disorder CNS Cns Diseases Central Nervous System Diseases
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Testicular Disease	Testicular Dysfunction Testicular Diseases Disorder Of Testis Testis Disorder Testicular Disorders
Muscle Tissue Disease
Acrofacial Dysostosis
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Spastic Quadriplegia	Spastic Quadriplegic Cerebral Palsy Quadriplegic Infantile Cerebral Palsy Tetraplegic Infantile Cerebral Palsy Cerebral Palsy Spastic Quadriplegic Quadriplegic Cerebral Palsy Spastic Quadriplegia Cerebral Palsy Spastic Tetraplegia Cerebral Palsy Cerebral Palsy, Quadriplegic, Infantile Cerebral Palsy With Spastic Tetraplegia Congenital Spastic Quadriplegia Spastic Tetraplegic Cerebral Palsy Congenital Quadriplegia Nos Tetraplegic Cerebral Palsy
Nijmegen Breakage Syndrome	Berlin Breakage Syndrome NBS Microcephaly, Normal Intelligence And Immunodeficiency Ataxia-Telangiectasia Variant Ataxia-Telangiectasia Variant V1 Seemanova Syndrome Ii Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome Seemanova Syndrome Type 2 At-V1 Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome Microcephaly Immunodeficiency Lymphoreticuloma Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence Seemanova Syndrome 2 Ataxia-Telangiectasia Variant 1 Seemanova Syndrome At V1 Ataxia-Telangiectasia, Variant 1 Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome V-At Ataxia Telangiectasia Variant V1
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Normal Pressure Hydrocephalus	Low Pressure Hydrocephalus Hydrocephalus Normal Pressure Hydrocephalus, Normal Pressure Normal Pressure Hydrocephalus Nos Nph - [Normal Pressure Hydrocephalus] Normal Pressure Hydrocephaly
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Peripheral Vascular Disease	Peripheral Arterial Disease Arterial Occlusive Disease Arterial Occlusive Diseases Pad Peripheral Vascular Diseases Peripheral Occlusive Disease Peripheral Arterial Diseases Helicobacter Infections
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Familial Adenomatous Polyposis 2	Mutyh-Related Attenuated Familial Adenomatous Polyposis FAP2 Colorectal Adenomatous Polyposis, Autosomal Recessive Adenomas, Multiple Colorectal Mutyh-Associated Polyposis Mutyh-Related Attenuated Familial Polyposis Coli Mutyh-Related Attenuated Fap Adenomas, Multiple Colorectal, Autosomal Recessive Mutyh-Related Afap Adenomas Multiple Colorectal Autosomal Recessive Colorectal Adenomatous Polyposis Autosomal Recessive Adenomatous Polyposis, Familial, Type 2
Muscular Disease
Sporadic Breast Cancer	Sporadic Breast Carcinoma
Lethal Congenital Contracture Syndrome	Lccs Lethal Congenital Contracture Syndrome 1
Ovarian Cystadenocarcinoma	Cystadenocarcinoma Of Ovary Cystadenocarcinoma Of The Ovary
Machado-Joseph Disease	SCA3 MJD Spinocerebellar Ataxia 3 Azorean Disease Spinocerebellar Ataxia Type 3 Spinocerebellar Atrophy Azorean Neurologic Disease Spinopontine Atrophy Nigrospinodentatal Degeneration Spinocerebellar Atrophy Iii Spinocerebellar Atrophy Type 3 Azorean Ataxia Azorean Disease Of The Nervous System Machado Disease Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia Disease, Machado-Joseph Ataxia, Spinocerebellar
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Corneal Disease	Corneal Diseases Corneal Disorders
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Communicating Hydrocephalus	Acquired Communicating Hydrocephalus
Bladder Disease	Bladder Diseases Urinary Bladder Diseases Urinary Bladder Disease
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Bone Development Disease
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Myotonic Disease	Myotonic Disorders Myotonic Syndrome Symptomatic Myotonia
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Endocrine System Disease	Abnormality Of The Endocrine System Disorder Of Endocrine System Endocrine System Diseases
Female Reproductive System Disease	Genital Diseases, Female Female Reproductive System Disorder
Uveal Disease	Uveal Diseases
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Leukocyte Disease	Leukocyte Disorders
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Blood Coagulation Disease	Blood Coagulation Disorders Coagulation Protein Disease Inherited Blood Coagulation Disease Postpartum Coagulation Defect Postpartum Coagulation Defect With Delivery Coagulation Protein Disorders Puerperal Coagulopathy
Ovarian Serous Cystadenocarcinoma	Serous Cystadenoma Cystadenoma Serous Cystadenoma, Serous
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Intestinal Benign Neoplasm	Intestinal Neoplasms Intestinal Tumors Intestine Growth Neoplasm Of Intestinal Tract
Blood Platelet Disease	Platelet Disorder Blood Platelet Disorders Thrombocytopathy Platelet Dysfunction Platelet Disorders Qualitative Platelet Deficiency
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Reproductive System Disease	Abnormality Of The Genital System Genital System Disease Reproductive System Disorder
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
Orofacial Cleft	Cleft, Orofacial
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
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
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
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Disease By Infectious Agent	Infectious Disease Infectious Diseases
Lymphangioma	Lymphatic Malformation Lymphatic Malformations Benign Lymphangioma Congenital Lymphangioma Lymphangiomas
Respiratory System Disease	Abnormality Of The Respiratory System Respiration Disorders Respiratory Tract Diseases
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Urinary System Disease	Abnormality Of The Urinary System Non-Neoplastic Urinary Tract Disease Urinary Tract Disease Urinary Tract Diseases Urinary Tract Anomaly Urologic Diseases Non-Neoplastic Urinary System Disorder Congenital Malformation Of The Urinary System
Leukodystrophy	Leukodystrophies
Malignant Ovarian Surface Epithelial-Stromal Neoplasm	Malignant Ovarian Surface Epithelial-Stromal Tumor
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
Ovary Adenocarcinoma	Ovarian Adenocarcinoma Adenocarcinoma Of The Ovary Ovarian Adenoacanthoma Adenocarcinoma Of Ovary
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Bone Structure Disease
Head And Neck Cancer	Head And Neck Neoplasm Head And Neck Tumours Head/Neck Neoplasm Tumor Of Head And Neck Head And Neck Neoplasms Hnc Cancer, Head/Neck
Testicular Cancer	Testis Cancer Testicular Carcinoma Testicular Neoplasms Malignant Neoplasm Of Testis Childhood Neoplasm Of The Testis Neoplasm Of Testis Pediatric Testicular Neoplasm Testicular Tumor Testis Neoplasm Testicular Tumors Testicular Neoplasm Testicular Malignant Germ Cell Tumor Childhood Testicular Neoplasm Carcinoma Of The Testis Cancer Of Testis Malignant Neoplasm Of Testis, Nos Malignant Neoplasm Of Testis, Unspecified Malignant Tumour Of Testis Testicle Cancer Primary Malignant Neoplasm Of Testis
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
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
Primary Hyperoxaluria	Hyperoxaluria Hyperoxaluria, Primary Oxalosis Primary Oxalosis Congenital Oxaluria D-Glycerate Dehydrogenase Deficiency Glyceric Aciduria Glycolic Aciduria Hepatic Agt Deficiency Oxaluria, Primary Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Primary Oxaluria Hyperoxaluria Primary Primary Hyperoxaluria Type 2 Primary Hyperoxaluria, Type I
Movement Disease	Movement Disorders Movement Disorder
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
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
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
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
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Myopathy	Muscular Diseases Myopathies
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis

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 (7)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS04483	ERCC6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04484	ERCC6L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04485	ERCC6L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20400	Ercc6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21852	Ercc6l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26909	Ercc6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28369	Ercc6l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ERCC6	VGNC	VGNC:81396
Rattus norvegicus	ERCC6	RGD	RGD:1311509
Mus musculus	ERCC6	MGD	MGI:1100494
Canis familiaris	ERCC6	VGNC	VGNC:40445
Bos taurus	ERCC6	VGNC	VGNC:28572
Felis catus	ERCC6	VGNC	VGNC:97419
Others	ERCC6	NCBI