PedAM

Pediatric Disease Annotations & Medicines


	medullary sponge kidney

Disease ID	395
Disease	medullary sponge kidney
Definition	A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones.
Synonym	cacchi ricci disease cacchi ricci syndrome cacchi-ricci syndrome canalicular ectasia, precalyceal canalicular ectasias, precalyceal disease, cacchi ricci ectasia, precalyceal canalicular ectasias, precalyceal canalicular kidney medullary sponge kidney sponge kidney sponge medullary kidney, medullary sponge kidney, sponge kidneys medullary sponge kidneys, sponge medullary sponge kidney (disorder) medullary sponge kidney [disease/finding] medullary sponge kidneys precalyceal canalicular ectasia precalyceal canalicular ectasias ricci disease, cacchi sponge kidney sponge kidney, medullary sponge kidneys sponge kidneys, medullary syndrome, cacchi-ricci
Orphanet	ORPHANET:1309
DOID	DOID:12713
UMLS	C0022681
MeSH	D007691
SNOMED-CT	SNOMEDCT_US_2016_09_01:236443009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0392525 \| nephrolithiasis \| 3 C0001126 \| renal tubular acidosis \| 1 C0027709 \| nephrocalcinosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	395
Disease	medullary sponge kidney
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:5) HP:0001528 \| Hemihypertrophy HP:0000790 \| Hematuria HP:0002150 \| Hypercalciuria HP:0008341 \| Distal renal tubular acidosis HP:0000787 \| Nephrolithiasis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0000787 \| Renal calculi \| 4 HP:0001947 \| Renal tubular acidosis \| 1 HP:0000121 \| Nephrocalcinosis \| 1 HP:0000028 \| Cryptorchidism \| 1 HP:0012408 \| Medullary nephrocalcinosis \| 1 HP:0000107 \| Renal cyst \| 1 HP:0001941 \| acidemia \| 1 HP:0002900 \| Hypokalemia \| 1 HP:0008341 \| Renal tubular acidosis, type I \| 1

Disease ID	395
Disease	medullary sponge kidney
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C0878787 \| growth failure C0451641 \| urolithiasis C0392525 \| nephrolithiasis C0162510 \| caroli's syndrome C0027709 \| nephrocalcinosis C0020502 \| hyperparathyroidism C0005940 \| bone disease C0001126 \| renal tubular acidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0392525 \| nephrolithiasis \| 3 C0001126 \| renal tubular acidosis \| 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:0001947	Renal tubular acidosis	MP:0004154	renal tubular necrosis;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001947	Renal tubular acidosis	MP:0002929	abnormal bile duct development;HP:0000843	Hyperparathyroidism

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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