PedAM

Pediatric Disease Annotations & Medicines


	vitamin d-dependent rickets type ii

Disease ID	1072
Disease	vitamin d-dependent rickets type ii
Definition	group of disorders characterized by rickets but not responding to high doses of vitamin D; most are forms of familial hypophosphatemic rickets.
Synonym	calcitriol receptor defect end organ unresponsiveness to 1,25-dihydroxycholecalciferol familial hypophosphataemic rickets familial hypophosphataemic rickets (disorder) familial hypophosphatemia in rickets familial hypophosphatemic rickets generalized resistance to 1,25 dihydroxyvitamin d generalized resistance to 1,25-dihydroxyvitamin d hereditary hypophosphatemic rickets hereditary vitamin d resistant rickets hereditary vitamin d-resistant rickets hvdrr hypocalcemic vitamin d resistant rickets hypocalcemic vitamin d-resistant rickets hypophosphatemia rickets hypophosphatemic rickets x linked hypophosphatemic rickets, familial hypophosphatemic rickets, hereditary rickets, familial hypophosphatemic rickets, hereditary hypophosphatemic rickets, hereditary vitamin d resistant rickets, hereditary vitamin d-resistant type 2 vitamin d-dependent rickets vitamin d resistant rickets with end organ unresponsiveness to 1,25 dihydroxycholecalciferol vitamin d resistant rickets, hereditary vitamin d-dependent rickets type ii (disorder) vitamin d-dependent rickets, type 2 vitamin d-dependent rickets, type 2 (disorder) vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol vitamin d-resistant rickets, hereditary x linked hypophosphatemia in rickets x-linked hypophosphatemic rickets
Orphanet	ORPHANET:93160
OMIM	OMIM:277440
DOID	DOID:0050445
UMLS	C3536983
MeSH	D053098
SNOMED-CT	SNOMEDCT_US_2016_09_01:72831007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0002170 \| alopecia \| 1 C0392525 \| nephrolithiasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) PHEX \| 5251 \| CTD_human CLCN5 \| 1184 \| CTD_human VDR \| 7421 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:88) 1053 \| CEBPE \| DISEASES 1591 \| CYP24A1 \| DISEASES 366 \| AQP9 \| DISEASES 4849 \| CNOT3 \| DISEASES 268 \| AMH \| DISEASES 3381 \| IBSP \| DISEASES 1594 \| CYP27B1 \| DISEASES 2597 \| GAPDH \| DISEASES 6678 \| SPARC \| DISEASES 566 \| AZU1 \| DISEASES 1179 \| CLCA1 \| DISEASES 8074 \| FGF23 \| DISEASES 1958 \| EGR1 \| DISEASES 1300 \| COL10A1 \| DISEASES 6568 \| SLC17A1 \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 2012 \| EMP1 \| DISEASES 10913 \| EDAR \| DISEASES 29079 \| MED4 \| DISEASES 443 \| ASPA \| DISEASES 2247 \| FGF2 \| DISEASES 56302 \| TRPV5 \| DISEASES 7112 \| TMPO \| DISEASES 2252 \| FGF7 \| DISEASES 5045 \| FURIN \| DISEASES 6574 \| SLC20A1 \| DISEASES 5741 \| PTH \| DISEASES 1834 \| DSPP \| DISEASES 220134 \| SKA1 \| DISEASES 2487 \| FRZB \| DISEASES 3625 \| INHBB \| DISEASES 5161 \| PDHA2 \| DISEASES 4783 \| NFIL3 \| DISEASES 364 \| AQP7 \| DISEASES 6447 \| SCG5 \| DISEASES 5469 \| MED1 \| DISEASES 50964 \| SOST \| DISEASES 337876 \| CHSY3 \| DISEASES 3479 \| IGF1 \| DISEASES 649 \| BMP1 \| DISEASES 435 \| ASL \| DISEASES 54541 \| DDIT4 \| DISEASES 4281 \| MID1 \| DISEASES 8648 \| NCOA1 \| DISEASES 6569 \| SLC34A1 \| DISEASES 3640 \| INSL3 \| DISEASES 56975 \| FAM20C \| DISEASES 796 \| CALCA \| DISEASES 5367 \| PMCH \| DISEASES 212 \| ALAS2 \| DISEASES 120227 \| CYP2R1 \| DISEASES 128178 \| EDARADD \| DISEASES 2261 \| FGFR3 \| DISEASES 6575 \| SLC20A2 \| DISEASES 1758 \| DMP1 \| DISEASES 1508 \| CTSB \| DISEASES 5828 \| PEX2 \| DISEASES 60 \| ACTB \| DISEASES 55503 \| TRPV6 \| DISEASES 4311 \| MME \| DISEASES 5167 \| ENPP1 \| DISEASES 56955 \| MEPE \| DISEASES 142680 \| SLC34A3 \| DISEASES 1382 \| CRABP2 \| DISEASES 632 \| BGLAP \| DISEASES 7390 \| UROS \| DISEASES 22802 \| CLCA4 \| DISEASES 9635 \| CLCA2 \| DISEASES 2258 \| FGF13 \| DISEASES 4952 \| OCRL \| DISEASES 26586 \| CKAP2 \| DISEASES 6303 \| SAT1 \| DISEASES 5251 \| PHEX \| DISEASES 9247 \| GCM2 \| DISEASES 5160 \| PDHA1 \| DISEASES 9365 \| KL \| DISEASES 795 \| S100G \| DISEASES 2591 \| GALNT3 \| DISEASES 6696 \| SPP1 \| DISEASES 5744 \| PTHLH \| DISEASES 9718 \| ECE2 \| DISEASES 6611 \| SMS \| DISEASES 2260 \| FGFR1 \| DISEASES 117581 \| TWIST2 \| DISEASES 6424 \| SFRP4 \| DISEASES 3250 \| HPR \| DISEASES 9 \| NAT1 \| DISEASES 7421 \| VDR \| DISEASES
Locus	(Waiting for update.)

Disease ID	1072
Disease	vitamin d-dependent rickets type ii
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0002150 \| Hypercalcinuria \| 21 HP:0000787 \| Renal calculi \| 1 HP:0001596 \| Hair loss \| 1 HP:0002664 \| Neoplasia \| 1 HP:0002653 \| Bone pain \| 1

Disease ID	1072
Disease	vitamin d-dependent rickets type ii
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)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C3536983	calcitriol	D002117	32222-06-3	familial hypophosphatemic rickets	MESH:D053098	therapeutic	1517380

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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