PedAM

Pediatric Disease Annotations & Medicines


	hypophosphatemic rickets

Disease ID	601
Disease	hypophosphatemic rickets
Definition	A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.
Synonym	hypophosphataemic rickets hypophosphatemia in rickets hypophosphatemic ricket phosphopenic type rickets phosphopenic type rickets (disorder) ricket, hypophosphatemic rickets, hypophosphatemic rickets, hypophosphatemic [disease/finding]
Orphanet	ORPHANET:437
UMLS	C1704375
MeSH	D063730
SNOMED-CT	SNOMEDCT_US_2016_09_01:66266003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:14) C0334082 \| epidermal nevus \| 3 C0259779 \| fibrous dysplasia \| 1 C0020502 \| hyperparathyroidism \| 1 C0242292 \| mccune-albright syndrome \| 1 C0018801 \| heart failure \| 1 C0015624 \| fanconi syndrome \| 1 C0003864 \| arthritis \| 1 C0392525 \| nephrolithiasis \| 1 C1565489 \| renal insufficiency \| 1 C0041341 \| phacomatosis \| 1 C0011407 \| pulpal necrosis \| 1 C0242292 \| albright syndrome \| 1 C0085113 \| neurofibromatosis \| 1 C0030353 \| papilledema \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	601
Disease	hypophosphatemic rickets
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:11) HP:0006487 \| Bowing of the long bones HP:0000268 \| Dolichocephaly HP:0002650 \| Scoliosis HP:0004322 \| Short stature HP:0000684 \| Delayed eruption of teeth HP:0000767 \| Pectus excavatum HP:0001387 \| Joint stiffness HP:0100777 \| Exostoses HP:0001363 \| Craniosynostosis HP:0000682 \| Abnormality of dental enamel HP:0100530 \| Abnormality of calcium-phosphate metabolism
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:23) HP:0002150 \| Hypercalcinuria \| 21 HP:0003764 \| Naevus \| 5 HP:0010816 \| Epidermal nevus \| 3 HP:0002664 \| Neoplasia \| 2 HP:0003109 \| Hyperphosphaturia \| 2 HP:0001369 \| Arthritis \| 1 HP:0000787 \| Renal calculi \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0011770 \| Tertiary hyperparathyroidism \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0000843 \| Hyperparathyroidism \| 1 HP:0002240 \| Enlarged liver \| 1 HP:0000938 \| Decreased bone mineral density \| 1 HP:0001941 \| acidemia \| 1 HP:0001085 \| Papilledema \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0000689 \| Misalignment of upper and lower dental arches \| 1 HP:0001942 \| Metabolic acidosis \| 1 HP:0010815 \| Sebaceous naevus \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0002653 \| Bone pain \| 1 HP:0010817 \| Linear nevus sebaceous \| 1 HP:0002148 \| Hypophosphataemia \| 1

Disease ID	601
Disease	hypophosphatemic rickets
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2700526 \| erythrocytosis C1963138 \| hypertension C1368355 \| synostosis C0242292 \| albright's syndrome C0020502 \| hyperparathyroidism C0003864 \| arthritis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0020502 \| hyperparathyroidism \| 1 C0003864 \| arthritis \| 1

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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000682	Abnormality of dental enamel	MP:0002649	abnormal enamel rod pattern;HP:0000684	Delayed eruption of teeth

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000682	Abnormality of dental enamel	MP:0003257	abnormal abdominal wall morphology;HP:0100777	Exostoses

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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