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	pyle disease

Disease ID	613
Disease	pyle disease
Definition	The presence of dysplastic regions in metaphyseal regions. [HPO:sdoelken]
Synonym	edwin pyle disease metaphyseal dysplasia metaphyseal dysplasia with little involvement of the cranial bones pyl pyle pyle metaphyseal dysplasia pyle metaphyseal dysplasia (disorder) pyle's disease pyles
Orphanet	ORPHANET:3005
OMIM	OMIM:265900
DOID	DOID:0080019
ICD10	ICD10CM:Q78.5
UMLS	C0265294
SNOMED-CT	SNOMEDCT_US_2016_09_01:27837003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0035334 \| cone-rod dystrophy \| 6 C0025362 \| mental retardation \| 4 C0221355 \| macrocephaly \| 1 C0410528 \| skeletal dysplasia \| 1 C0025958 \| microcephaly \| 1 C0035334 \| retinitis pigmentosa \| 1 C0035078 \| renal failure \| 1 C0022821 \| kyphosis \| 1 C0015300 \| proptosis \| 1 C0035333 \| retinitis \| 1 C0020757 \| icthyosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 22926 \| ATF6 \| 1.314 \| DISEASES 755 \| C21orf2 \| 2.648 \| DISEASES 1028 \| CDKN1C \| 5.038 \| DISEASES 1301 \| COL11A1 \| 1.831 \| DISEASES 1302 \| COL11A2 \| 2.171 \| DISEASES 1280 \| COL2A1 \| 3.144 \| DISEASES 1298 \| COL9A2 \| 2.545 \| DISEASES 1299 \| COL9A3 \| 2.665 \| DISEASES 1810 \| DR1 \| 2.087 \| DISEASES 80712 \| ESX1 \| 1.995 \| DISEASES 2261 \| FGFR3 \| 2.264 \| DISEASES 2710 \| GK \| 2.41 \| DISEASES 3339 \| HSPG2 \| 2.043 \| DISEASES 10984 \| KCNQ1OT1 \| 3.555 \| DISEASES 54900 \| LAX1 \| 1.526 \| DISEASES 79705 \| LRRK1 \| 3.159 \| DISEASES 7873 \| MANF \| 2.642 \| DISEASES 4148 \| MATN3 \| 2.031 \| DISEASES 4158 \| MC2R \| 2.002 \| DISEASES 579 \| NKX3-2 \| 3.677 \| DISEASES 190 \| NR0B1 \| 3.82 \| DISEASES 2516 \| NR5A1 \| 1.438 \| DISEASES 4958 \| OMD \| 2.172 \| DISEASES 5144 \| PDE4D \| 1.901 \| DISEASES 5745 \| PTH1R \| 5.016 \| DISEASES 5744 \| PTHLH \| 4.809 \| DISEASES 6023 \| RMRP \| 5.549 \| DISEASES 860 \| RUNX2 \| 2.209 \| DISEASES 871 \| SERPINH1 \| 1.089 \| DISEASES 6424 \| SFRP4 \| 3.458 \| DISEASES 6658 \| SOX3 \| 2.197 \| DISEASES 9095 \| TBX19 \| 2.589 \| DISEASES 157680 \| VPS13B \| 1.935 \| DISEASES 8838 \| WISP3 \| 2.248 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) SFRP4 \| 7p14.1

Disease ID	613
Disease	pyle disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:11) HP:0002684 \| Thickened calvarium HP:0000303 \| Increased size of lower jaw HP:0000670 \| Dental caries HP:0002650 \| Scoliosis HP:0000765 \| Abnormality of the thorax HP:0001324 \| Muscular weakness HP:0002857 \| Genu valgum HP:0100255 \| Metaphyseal dysplasia HP:0001377 \| Restricted elbow extension HP:0000926 \| Flattened vertebral bodies HP:0002829 \| Arthralgias
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0001388 \| Joint laxity \| 6 HP:0001249 \| Mental retardation \| 4 HP:0004322 \| Stature below 3rd percentile \| 2 HP:0000327 \| Maxillary micrognathia \| 2 HP:0002652 \| Skeletal dysplasia \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0000520 \| Anterior bulging of the globe of eye \| 1 HP:0003498 \| Disproportionate short stature \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0008454 \| Rounded lower back \| 1 HP:0000774 \| Low chest circumference \| 1 HP:0000252 \| Small head circumference \| 1 HP:0005619 \| Thoracolumbar kyphosis \| 1 HP:0002514 \| Intracranial calcifications \| 1 HP:0000256 \| Macrocrania \| 1 HP:0002659 \| Increased tendency to fractures \| 1 HP:0003508 \| Short stature, proportionate \| 1 HP:0007099 \| Arnold Chiari type I malformation \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0005484 \| Acquired microcephaly \| 1 HP:0002808 \| Gibbus deformity \| 1 HP:0001742 \| Obstruction of nose \| 1 HP:0006808 \| Cerebral hypomyelination \| 1 HP:0000405 \| Conductive hearing loss \| 1

Disease ID	613
Disease	pyle disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000765	Abnormality of the thorax	MP:0013620	increased internal diameter of femur	increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0001324	Muscle weakness	MP:0000746	weakness	state of being infirm or less strong than normal
HP:0000670	Carious teeth	MP:0004033	supernumerary teeth	occurrence of more than the usual number of teeth

Mapped by homologous gene(Total Items:11)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002650	Scoliosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0100255	Metaphyseal dysplasia	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0001377	Limited elbow extension	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000926	Platyspondyly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002829	Arthralgia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000303	Mandibular prognathia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002684	Thickened calvaria	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002857	Genu valgum	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000765	Abnormality of the thorax	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000670	Carious teeth	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001324	Muscle weakness	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).

Disease ID	613
Disease	pyle disease
Case	(Waiting for update.)

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