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encyclopedia of Rare Disease Annotation for Precision Medicine

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	klippel-feil syndrome

Disease ID	1352
Disease	klippel-feil syndrome
Definition	A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
Synonym	bonnevie-ullrich and klippel-feil syndrome brevicollis cervical c2/c3 vertebral fusion cervical fusion syndrome cervical vertebra fusion cervical vertebral fusion cervical vertebral fusion syndrome congenital dystrophia brevicollis congenital dystrophia brevicollis (disorder) dystrophia brevicollis congen dystrophia brevicollis congenita dystrophia brevicollis congenitas feil klippel syndrome fusion of cervical vertebrae c2-3 kfs - klippel-feil syndrome klippel feil syndrome klippel-feil and turner syndrome klippel-feil deformity klippel-feil sequence klippel-feil sequence (disorder) klippel-feil syndrome [disease/finding] klippel-feil syndrome nos klippel-feil syndrome nos (disorder) nielsen's disease syndrome, klippel-feil torticollis, osseous congenital vertebral cervical fusion syndrome
Orphanet	ORPHANET:2345
DOID	DOID:10426
ICD10	ICD10CM:Q76.1
UMLS	C0022738
MeSH	D007714
SNOMED-CT	SNOMEDCT_US_2016_09_01:388981000;SNOMEDCT_US_2016_09_01:5601008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0037928 \| myelopathy \| 2 C0011649 \| dermoid \| 2 C0008924 \| cleft lip \| 1 C0002736 \| amyotrophic lateral sclerosis \| 1 C0036439 \| scoliosis \| 1 C0158699 \| renal agenesis \| 1 C0334520 \| malignant teratoma \| 1 C0011649 \| dermoid cyst \| 1 C0025299 \| meningocele \| 1 C0041408 \| turner syndrome \| 1 C0022408 \| arthropathy \| 1 C0039538 \| teratoma \| 1 C0078981 \| arachnoid cyst \| 1 C0036341 \| schizophrenia \| 1 C0008925 \| cleft palate \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 9573 \| GDF3 \| GHR 4222 \| MEOX1 \| GHR 392255 \| GDF6 \| CTD_human;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:18) 257 \| ALX3 \| 2.644 \| DISEASES 650 \| BMP2 \| 1.46 \| DISEASES 875 \| CBS \| 1.494 \| DISEASES 1123 \| CHN1 \| 3.972 \| DISEASES 1312 \| COMT \| 1.354 \| DISEASES 2261 \| FGFR3 \| 1.361 \| DISEASES 9573 \| GDF3 \| 4.731 \| DISEASES 3107 \| HLA-C \| 1.916 \| DISEASES 3127 \| HLA-DRB5 \| 2.187 \| DISEASES 3481 \| IGF2 \| 1.785 \| DISEASES 4222 \| MEOX1 \| 6.346 \| DISEASES 5075 \| PAX1 \| 5.243 \| DISEASES 5888 \| RAD51 \| 1.497 \| DISEASES 134701 \| RIPPLY2 \| 5.486 \| DISEASES 80196 \| RNF34 \| 3.209 \| DISEASES 6231 \| RPS26 \| 3.526 \| DISEASES 50945 \| TBX22 \| 3.993 \| DISEASES 10381 \| TUBB3 \| 2.185 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1352
Disease	klippel-feil syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:42) HP:0002318 \| Cervical myelopathy \| 3 HP:0001335 \| Bimanual synkinesia \| 2 HP:0002196 \| Myelopathy \| 2 HP:0000078 \| Genital abnormalities \| 2 HP:0000912 \| High scapula \| 2 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0002308 \| Chiari malformation \| 1 HP:0001528 \| Hemihypertrophy \| 1 HP:0000473 \| Spasmodic torticollis \| 1 HP:0001245 \| Hypoplastic thenar eminences \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0030680 \| Abnormality of cardiovascular system morphology \| 1 HP:0008462 \| Cervical instability \| 1 HP:0007354 \| Amyotrophic lateral sclerosis \| 1 HP:0000122 \| Unilateral kidney agenesis \| 1 HP:0030833 \| Neck pain \| 1 HP:0005758 \| Basilar impression \| 1 HP:0030725 \| Neurenteric cyst \| 1 HP:0012366 \| Basilar invagination \| 1 HP:0012722 \| Heart block \| 1 HP:0012531 \| Pain \| 1 HP:0002650 \| Scoliosis \| 1 HP:0002751 \| Kyphoscoliosis \| 1 HP:0000470 \| Decreased cervical height \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0009792 \| Teratoma \| 1 HP:0001696 \| Situs inversus totalis \| 1 HP:0002084 \| Bifid skull \| 1 HP:0001709 \| Complete heart block \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0003040 \| Arthropathy \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0002435 \| Meningocele \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0002475 \| Myelomeningocele \| 1 HP:0005988 \| Congenital muscular torticollis \| 1 HP:0002691 \| Increased basal angle of skull base \| 1 HP:0002375 \| Decreased spontaneous movement \| 1 HP:0030726 \| Spinal neurenteric cyst \| 1 HP:0002085 \| Occipital encephalocele \| 1

Disease ID	1352
Disease	klippel-feil syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
MYO18B	NM_032608.5:c.6905C>A: p.(Ser2302*)	doi:10.1038/gim.2016.155	Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1352
Disease	klippel-feil syndrome
Case	(Waiting for update.)

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