PedAM

Pediatric Disease Annotations & Medicines


	klippel-feil syndrome

Disease ID	967
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
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:14) C0037928 \| myelopathy \| 2 C0011649 \| dermoid \| 2 C0041408 \| turner syndrome \| 1 C0008924 \| cleft lip \| 1 C0011649 \| dermoid cyst \| 1 C0036341 \| schizophrenia \| 1 C0036439 \| scoliosis \| 1 C0002736 \| amyotrophic lateral sclerosis \| 1 C0008925 \| cleft palate \| 1 C0334520 \| malignant teratoma \| 1 C0039538 \| teratoma \| 1 C0158699 \| renal agenesis \| 1 C0022408 \| arthropathy \| 1 C0078981 \| arachnoid cyst \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) MEOX1 \| 4222 \| GHR GDF3 \| 9573 \| GHR GDF6 \| 392255 \| CTD_human;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:32) 90956 \| ADCK2 \| DISEASES 6583 \| SLC22A4 \| DISEASES 57167 \| SALL4 \| DISEASES 7844 \| RNF103 \| DISEASES 2657 \| GDF1 \| DISEASES 182 \| JAG1 \| DISEASES 4040 \| LRP6 \| DISEASES 9480 \| ONECUT2 \| DISEASES 5465 \| PPARA \| DISEASES 2588 \| GALNS \| DISEASES 6911 \| TBX6 \| DISEASES 392255 \| GDF6 \| DISEASES 4838 \| NODAL \| DISEASES 51082 \| POLR1D \| DISEASES 4222 \| MEOX1 \| DISEASES 9573 \| GDF3 \| DISEASES 2261 \| FGFR3 \| DISEASES 875 \| CBS \| DISEASES 6231 \| RPS26 \| DISEASES 1312 \| COMT \| DISEASES 134701 \| RIPPLY2 \| DISEASES 257 \| ALX3 \| DISEASES 50945 \| TBX22 \| DISEASES 3127 \| HLA-DRB5 \| DISEASES 3107 \| HLA-C \| DISEASES 650 \| BMP2 \| DISEASES 5888 \| RAD51 \| DISEASES 80196 \| RNF34 \| DISEASES 5075 \| PAX1 \| DISEASES 1123 \| CHN1 \| DISEASES 3481 \| IGF2 \| DISEASES 10381 \| TUBB3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	967
Disease	klippel-feil syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:35) HP:0002318 \| Cervical myelopathy \| 3 HP:0000912 \| High scapula \| 2 HP:0000078 \| Genital abnormalities \| 2 HP:0002196 \| Myelopathy \| 2 HP:0000473 \| Spasmodic torticollis \| 1 HP:0005758 \| Basilar impression \| 1 HP:0001335 \| Bimanual synkinesia \| 1 HP:0001709 \| Complete heart block \| 1 HP:0008462 \| Cervical instability \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0030725 \| Neurenteric cyst \| 1 HP:0000122 \| Unilateral kidney agenesis \| 1 HP:0002308 \| Chiari malformation \| 1 HP:0009792 \| Teratoma \| 1 HP:0002751 \| Kyphoscoliosis \| 1 HP:0001245 \| Hypoplastic thenar eminences \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0005988 \| Congenital muscular torticollis \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0012531 \| Pain \| 1 HP:0012722 \| Heart block \| 1 HP:0030833 \| Neck pain \| 1 HP:0003040 \| Arthropathy \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0001696 \| Situs inversus totalis \| 1 HP:0012366 \| Basilar invagination \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0001528 \| Hemihypertrophy \| 1 HP:0002650 \| Scoliosis \| 1 HP:0030680 \| Abnormality of cardiovascular system morphology \| 1 HP:0030726 \| Spinal neurenteric cyst \| 1 HP:0007354 \| Amyotrophic lateral sclerosis \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0002691 \| Increased basal angle of skull base \| 1 HP:0001631 \| Atria septal defect \| 1

Disease ID	967
Disease	klippel-feil syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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)
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Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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