PedAM

Pediatric Disease Annotations & Medicines


	arthropathy, progressive pseudorheumatoid, of childhood

Disease ID	1865
Disease	arthropathy, progressive pseudorheumatoid, of childhood
Synonym	ppac progressive pseudorheumatoid arthropathy of childhood progressive pseudorheumatoid dysplasia progressive pseudorheumatoid dysplasia (disorder) sedt-pa spondyloepiphyseal dysplasia tarda with progressive arthropathy
Orphanet	ORPHANET:1159
OMIM	OMIM:208230
UMLS	C0432215
SNOMED-CT	SNOMEDCT_US_2016_09_01:254065005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) WISP3 \| 8838 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1865
Disease	arthropathy, progressive pseudorheumatoid, of childhood
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0002758 \| Osteoarthritis HP:0002812 \| Coxa vara HP:0003071 \| Flattened epiphysis HP:0004576 \| Large joint contractures HP:0100490 \| Camptodactyly of finger HP:0010580 \| Large epiphyses HP:0001324 \| Muscular weakness HP:0006247 \| Enlarged interphalangeal joints HP:0001386 \| Joint swelling HP:0002751 \| Kyphoscoliosis HP:0003016 \| Wide metaphyses HP:0003371 \| Enlarged capital femoral epiphyses HP:0000939 \| Osteoporosis HP:0002355 \| Difficulty walking HP:0006163 \| Enlarged metacarpophalangeal joints HP:0004637 \| Decreased cervical spine mobility HP:0003040 \| Arthropathy HP:0001760 \| Foot deformities HP:0000926 \| Flattened vertebral bodies HP:0002970 \| Genu varum HP:0001387 \| Stiff joints HP:0002515 \| Waddling gait
Text Mined Phenotype	(Waiting for update.)

Disease ID	1865
Disease	arthropathy, progressive pseudorheumatoid, of childhood
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:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908899	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112064842	G	A
rs121908900	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112069548	G	A
rs121908901	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112061098	C	A
rs121908902	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112061174	T	C
rs121908903	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112069555	T	C
rs727503755	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112068355	GT	-
rs797044438	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112061188	A	-
rs797044439	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112054407	-	T
rs797044440	NA	8838	WISP3	umls:C0432215	CLINVAR	NA	0.484071628	NA	WISP3	6	112069395	T	-

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003272	Abnormality of the hip bone	MP:0000063	decreased bone mineral density;HP:0001376	Limitation of joint mobility

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002758	Osteoarthritis	MP:0000013	abnormal adipose tissue distribution;HP:0004322	Short stature

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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