PedAM

Pediatric Disease Annotations & Medicines


	skeletal dysplasia

Disease ID	1039
Disease	skeletal dysplasia
Definition	Abnormal development of cartilage and bone.
Synonym	congenital skeletal dysplasia osteochondrodysplasia (disorder) osteochondrodysplasia syndrome osteochondrodysplasia syndrome (disorder) osteochondrodysplasia, nos osteochondrodysplasias osteochondrodysplasias [disease/finding]
DOID	DOID:2256
UMLS	C0029422
MeSH	D010009
SNOMED-CT	SNOMEDCT_US_2016_09_01:240190009;SNOMEDCT_US_2016_09_01:105985007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:23) C0001080 \| achondroplasia \| 3 C0220659 \| acrodysostosis \| 1 C0010964 \| dandy-walker malformation \| 1 C0221355 \| macrocephaly \| 1 C0036439 \| scoliosis \| 1 C0000889 \| acanthosis nigricans \| 1 C0014544 \| epilepsy \| 1 C0022408 \| arthropathy \| 1 C0008925 \| cleft palate \| 1 C0031117 \| peripheral neuropathy \| 1 C0265294 \| metaphyseal dysplasia \| 1 C0344530 \| megalocornea \| 1 C0011847 \| diabetes \| 1 C0036440 \| idiopathic scoliosis \| 1 C0026707 \| morquio syndrome \| 1 C0010278 \| craniosynostosis \| 1 C0027092 \| myopia \| 1 C0007286 \| carpal tunnel syndrome \| 1 C0085113 \| neurofibromatosis \| 1 C0028754 \| obesity \| 1 C0026848 \| myopathy \| 1 C0221357 \| brachydactyly \| 1 C0009782 \| connective tissue disorder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) BCL2 \| 596 \| CTD_human KDR \| 3791 \| CTD_human TRPV4 \| 59341 \| CTD_human FLNA \| 2316 \| CTD_human VEGFA \| 7422 \| CTD_human DLL3 \| 10683 \| CTD_human COL9A1 \| 1297 \| CTD_human COL11A1 \| 1301 \| CTD_human COL2A1 \| 1280 \| CTD_human SOST \| 50964 \| CTD_human FLT1 \| 2321 \| CTD_human ADAMTSL2 \| 9719 \| CTD_human GLB1 \| 2720 \| CTD_human TRAPPC2 \| 6399 \| CTD_human HSPG2 \| 3339 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1302 \| COL11A2 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1039
Disease	skeletal dysplasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:51) HP:0004322 \| Stature below 3rd percentile \| 12 HP:0003508 \| Short stature, proportionate \| 3 HP:0003498 \| Disproportionate short stature \| 3 HP:0008462 \| Cervical instability \| 2 HP:0008873 \| Dwarfism, short-limbed \| 2 HP:0003510 \| Proportionate dwarfism \| 2 HP:0001510 \| Growth deficiency \| 1 HP:0005881 \| Spinal instability \| 1 HP:0000256 \| Macrocrania \| 1 HP:0002650 \| Scoliosis \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0001249 \| Mental retardation \| 1 HP:0002949 \| Fused cervical vertebrae \| 1 HP:0002486 \| Myotonia \| 1 HP:0011001 \| Increased bone mineral density \| 1 HP:0000568 \| Abnormally small globe of eye \| 1 HP:0011003 \| High myopia \| 1 HP:0008845 \| Mesomelic dwarfism \| 1 HP:0000098 \| Increased body height \| 1 HP:0000943 \| Dysostosis multiplex \| 1 HP:0005616 \| Early bone maturation \| 1 HP:0000956 \| Keratosis nigricans \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0005257 \| Small chest \| 1 HP:0000926 \| Flattened vertebral bodies \| 1 HP:0012245 \| Sex reversal \| 1 HP:0002282 \| Heterotopias \| 1 HP:0009826 \| limb shortening \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0003040 \| Arthropathy \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0100255 \| Metaphyseal dysplasia \| 1 HP:0000485 \| Enlarged cornea \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0010442 \| Polydactyly \| 1 HP:0000545 \| Near sightedness \| 1 HP:0001305 \| Dandy-Walker cyst \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0100806 \| Sepsis \| 1 HP:0003026 \| shortened long tubular bones \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0006487 \| Camptomelia \| 1 HP:0001156 \| Brachydactyly \| 1 HP:0001513 \| Obesity \| 1 HP:0100777 \| Exostoses \| 1 HP:0001511 \| Prenatal onset growth retardation \| 1 HP:0000164 \| Abnormality of the teeth \| 1

Disease ID	1039
Disease	skeletal dysplasia
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0013336 \| dwarfism \| 2 C0158981 \| neonatal diabetes \| 1 C0011847 \| diabetes \| 1

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

All Snps(Total Genotypes:44)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs116571438	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109788483	G	A,T
rs121912632	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792407	C	T
rs121912633	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792396	C	T
rs121912634	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109798768	T	C
rs121912635	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109788462	C	A
rs121912636	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109798775	T	C,A
rs121912637	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109784378	G	C,A
rs121913105	25119967	2261	FGFR3	umls:C0410528	BeFree	FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.	0.007057489	2014	FGFR3	4	1806163	A	C,T
rs121913105	10053006	2261	FGFR3	umls:C0410528	BeFree	A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.	0.007057489	1999	FGFR3	4	1806163	A	C,T
rs121913482	12833394	2261	FGFR3	umls:C0410528	BeFree	In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia.	0.007057489	2003	FGFR3	4	1801837	C	T
rs187864727	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109803054	C	A,T
rs267607147	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109784379	G	C,A
rs267607148	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109800639	C	T
rs267607149	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109784385	C	T
rs267607150	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792671	T	C
rs28931614	11472579	2261	FGFR3	umls:C0410528	BeFree	Achondroplasia is a skeletal dysplasia caused by substitution of arginine for glycine at codon 380 (G380R) mutation of the fibroblast growth factor receptor 3.	0.007057489	2001	FGFR3	4	1804392	G	A,C
rs387906324	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109808308	C	T
rs387906902	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109793560	G	T
rs387906903	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109803113	T	C
rs387906904	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109803009	G	A
rs387906906	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109786827	G	A
rs387906907	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109800645	T	C
rs397514473	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109814531	G	A
rs397514474	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109814565	C	A
rs515726152	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109798742	C	A
rs515726153	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109796638	T	C
rs515726154	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109794406	AGA	-
rs515726155	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109793948	-	AGG
rs515726157	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792704	T	C
rs515726158	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792702	A	G
rs515726159	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792689	A	G
rs515726160	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792678	C	A
rs515726161	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792664	G	C
rs515726162	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792403	G	T
rs515726163	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792401	A	G
rs515726164	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792379	C	T
rs515726165	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109786716	C	T
rs515726166	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109784362	GGTCTCATTCTTGCCCG	-
rs515726167	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109803106	C	G
rs515726169	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109800754	C	G
rs515726171	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109798883	T	C
rs515726172	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109798774	A	G
rs77975504	NA	59341	TRPV4	umls:C0410528	CLINVAR	NA	0.122714419	NA	TRPV4	12	109792695	C	T
rs78311289	18000903	2261	FGFR3	umls:C0029422	BeFree	Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.	0.002909916	2007	FGFR3	4	1806162	A	C,G

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.)

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0029422	lidocaine	D008012	137-58-6	osteochondrodysplasias	MESH:D010009	therapeutic	12238912
C0029422	mexiletine	D008801	31828-71-4	osteochondrodysplasias	MESH:D010009	therapeutic	12238912

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

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