eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	hereditary hypophosphatemic rickets

Disease ID	1135
Disease	hereditary hypophosphatemic rickets
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 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 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:89936 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:4) C0020502 \| hyperparathyroidism \| 2 C0002170 \| alopecia \| 2 C0011407 \| pulpal necrosis \| 1 C0392525 \| nephrolithiasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1184 \| CLCN5 \| CTD_human 5251 \| PHEX \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:45) 60 \| ACTB \| 1.069 \| DISEASES 212 \| ALAS2 \| 1.118 \| DISEASES 632 \| BGLAP \| 3.342 \| DISEASES 796 \| CALCA \| 2.231 \| DISEASES 26586 \| CKAP2 \| 1.497 \| DISEASES 9635 \| CLCA2 \| 1.336 \| DISEASES 22802 \| CLCA4 \| 1.434 \| DISEASES 1382 \| CRABP2 \| 1.103 \| DISEASES 1508 \| CTSB \| 1.123 \| DISEASES 120227 \| CYP2R1 \| 1.22 \| DISEASES 1758 \| DMP1 \| 5.088 \| DISEASES 9718 \| ECE2 \| 1.846 \| DISEASES 128178 \| EDARADD \| 1.876 \| DISEASES 5167 \| ENPP1 \| 2.918 \| DISEASES 56975 \| FAM20C \| 3.443 \| DISEASES 2258 \| FGF13 \| 2.369 \| DISEASES 2260 \| FGFR1 \| 1.977 \| DISEASES 2261 \| FGFR3 \| 2.281 \| DISEASES 2591 \| GALNT3 \| 3.875 \| DISEASES 9247 \| GCM2 \| 1.49 \| DISEASES 3250 \| HPR \| 1.921 \| DISEASES 3640 \| INSL3 \| 1.07 \| DISEASES 9365 \| KL \| 4.124 \| DISEASES 56955 \| MEPE \| 6.086 \| DISEASES 4311 \| MME \| 2.593 \| DISEASES 9 \| NAT1 \| 1.219 \| DISEASES 8648 \| NCOA1 \| 1.078 \| DISEASES 4952 \| OCRL \| 1.037 \| DISEASES 5160 \| PDHA1 \| 1.294 \| DISEASES 5828 \| PEX2 \| 1.855 \| DISEASES 5251 \| PHEX \| 7.749 \| DISEASES 5367 \| PMCH \| 1.165 \| DISEASES 5744 \| PTHLH \| 1.12 \| DISEASES 795 \| S100G \| 1.462 \| DISEASES 6303 \| SAT1 \| 1.847 \| DISEASES 6424 \| SFRP4 \| 4.01 \| DISEASES 6575 \| SLC20A2 \| 1.285 \| DISEASES 6569 \| SLC34A1 \| 4.261 \| DISEASES 142680 \| SLC34A3 \| 4.819 \| DISEASES 6611 \| SMS \| 1.956 \| DISEASES 6696 \| SPP1 \| 2.807 \| DISEASES 55503 \| TRPV6 \| 1.086 \| DISEASES 117581 \| TWIST2 \| 1.236 \| DISEASES 7390 \| UROS \| 1.068 \| DISEASES 7421 \| VDR \| 5.273 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1135
Disease	hereditary hypophosphatemic rickets
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0002150 \| Hypercalcinuria \| 17 HP:0000843 \| Hyperparathyroidism \| 3 HP:0001596 \| Hair loss \| 2 HP:0011770 \| Tertiary hyperparathyroidism \| 1 HP:0000867 \| Secondary hyperparathyroidism \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0000787 \| Renal calculi \| 1 HP:0030757 \| Dental abscess \| 1

Disease ID	1135
Disease	hereditary hypophosphatemic rickets
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0020502 \| hyperparathyroidism \| 2 C0271858 \| tertiary hyperparathyroidism \| 1 C0039093 \| synostosis \| 1

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:0)
(Waiting for update.)

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

Disease ID	1135
Disease	hereditary hypophosphatemic rickets
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter